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Sample records for idiopathic hypogonadotrophic hypogonadism

  1. Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation

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    N Chelaghma

    2018-04-01

    Full Text Available Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH. We present a case of a young lady born to consanguineous parents who was found to have IHH due to a rare gene mutation.

  2. Hypersensitivity reaction with intravenous GnRH after pulsatile subcutaneous GnRH treatment in male hypogonadotrophic hypogonadism.

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    Popović, V.; Milosević, Z.; Djukanović, R.; Micić, D.; Nesović, M.; Manojlović, D.; Djordjević, P.; Mićić, J.

    1988-01-01

    Chronic pulsatile subcutaneous administration of low doses of gonadotrophin releasing hormone (GnRH) is an effective therapy for men with hypogonadotrophic hypogonadism. Hypersensitivity reactions to GnRH are rare. We wish to report hypersensitivity reactions with intravenous GnRH after low dose subcutaneous pulsatile GnRH treatment in two men with hypogonadotrophic hypogonadism due to suprasellar disease.

  3. Pituitary imaging findings in male patients with hypogonadotrophic hypogonadism.

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    Hirsch, Dania; Benbassat, Carlos; Toledano, Yoel; S'chigol, Irena; Tsvetov, Gloria; Shraga-Slutzky, Ilana; Eizenberg, Yoav; Shimon, Ilan

    2015-08-01

    Data on pituitary imaging in adult male patients presenting with hypogonadotrophic hypogonadism (HH) and no known pituitary disease are scarce. To assess the usefulness of pituitary imaging in the evaluation of men presenting with HH after excluding known pituitary disorders and hyperprolactinemia. A historical prospective cohort of males with HH. Men who presented for endocrine evaluation from 2011 to 2014 with testosterone levels pituitary disease. Seventy-five men were included in the analysis. Their mean age and BMI were 53.4 ± 14.8 years and 30.7 ± 5.2 kg/m2, respectively. Mean total testosterone, LH, and FSH were 6.2 ± 1.7 nmol/L, 3.4 ± 2 and 4.7 ± 3.1 mIU/L, respectively. Prolactin level within the normal range was obtained in all men (mean 161 ± 61, range 41-347 mIU/L). Sixty-two men had pituitary MRI and 13 performed CT. In 61 (81.3%) men pituitary imaging was normal. Microadenoma was found in 8 (10.7%), empty sella and thickened pituitary stalk in one patient (1.3%) each. In other four patients (5.3%) a small or mildly asymmetric pituitary gland was noted. No correlation was found between testosterone level and the presence of pituitary anomalies. This study suggests that the use of routine hypothalamic-pituitary imaging in the evaluation of IHH, in the absence of clinical characteristics of other hormonal loss or sellar compression symptoms, will not increase the diagnostic yield of sellar structural abnormalities over that reported in the general population.

  4. Retro- and orthonasal olfactory function in relation to olfactory bulb volume in patients with hypogonadotrophic hypogonadism.

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    Salihoglu, Murat; Kurt, Onuralp; Ay, Seyid Ahmet; Baskoy, Kamil; Altundag, Aytug; Saglam, Muzaffer; Deniz, Ferhat; Tekeli, Hakan; Yonem, Arif; Hummel, Thomas

    2017-08-24

    Idiopathic hypogonadotrophic hypogonadism (IHH) with an olfactory deficit is defined as Kallmann syndrome (KS) and is distinct from normosmic IHH. Because olfactory perception not only consists of orthonasally gained impressions but also involves retronasal olfactory function, in this study we decided to comprehensively evaluate both retronasal and orthonasal olfaction in patients with IHH. This case-control study included 31 controls and 45 IHH patients. All participants whose olfactory and taste functions were evaluated with orthonasal olfaction (discrimination, identification and threshold), retronasal olfaction, taste function and olfactory bulb volume (OBV) measurement. The patients were separated into three groups according to orthonasal olfaction: anosmic IHH (aIHH), hyposmic IHH (hIHH) and normosmic IHH (nIHH). Discrimination, identification and threshold scores of patients with KS were significantly lower than controls. Threshold scores of patients with nIHH were significantly lower than those of controls, but discrimination and identification scores were not significantly different. Retronasal olfaction was reduced only in the aIHH group compared to controls. Identification of bitter, sweet, sour, and salty tastes was not significantly different when compared between the anosmic, hyposmic, and normosmic IHH groups and controls. OBV was lower bilaterally in all patient groups when compared with controls. The OBV of both sides was found to be significantly correlated with TDI scores in IHH patients. 1) There were no significant differences in gustatory function between controls and IHH patients; 2) retronasal olfaction was reduced only in anosmic patients but not in orthonasally hyposmic participants, possibly indicating presence of effective compensatory mechanisms; 3) olfactory bulb volumes were highly correlated with olfaction scores in the HH group. The current results indicate a continuum from anosmia to normosmia in IHH patients. Copyright © 2017

  5. Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.

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    Ayers, Katie L; Bouty, Aurore; Robevska, Gorjana; van den Bergen, Jocelyn A; Juniarto, Achmad Zulfa; Listyasari, Nurin Aisyiyah; Sinclair, Andrew H; Faradz, Sultana M H

    2017-02-16

    Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty. In rare cases, hypospadias may also be present. Here, we describe genetic mutational analysis of CHH genes in Indonesian 46,XY disorder of sex development patients with under-virilisation. We present 11 male patients with varying degrees of under-virilisation who have rare variants in known CHH genes. Interestingly, many of these patients had hypospadias. We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia.

  6. Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism

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    G S Lele

    2014-01-01

    Full Text Available The detection of any atypical extraoral or intraoral features warrants a thorough investigation, even if the patient is asymptomatic or unaware of these. At times, dental findings help in the diagnosis of an underlying systemic problem. These findings may or may not be associated with any syndrome. Thus, thorough examination and exhaustive investigations should be carried out for every atypical finding to ensure optimal oral and general health for the patient. Case Description: This is a case report of seventeen year old male who presented with peculiar/atypical dentition which ′told the tale′ and led to the diagnosis of underlying endocrinological problem about which the parents were totally unaware. The patient was short with central obesity and microcephaly. Intraorally, there was presence of thirty six microdonts. Consultation with pediatrician and endocrinologist, and thorough investigations confirmed the condition to be of ′Idiopathic Hypergonadotropic Hypogonadism′. The patient underwent not only oral rehabilitation, but also timely consultation and treatment from a pediatrician and an endocrinologist.

  7. Osteoporosis in men with idiopathic hypogonadotropic hypogonadism

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    Finkelstein, J.S.; Klibanski, A.; Neer, R.M.; Greenspan, S.L.; Rosenthal, D.I.; Crowley, W.F. Jr.

    1987-01-01

    To assess the effect of testosterone deficiency on skeletal integrity in men, we determined bone density in 23 hypogonadal men with isolated gonadotropin-releasing hormone deficiency and compared those values with ones from controls. Cortical bone density, as assessed by single-photon absorptiometry of the nondominant radius, ranged from 0.57 to 0.86 g/cm2 (mean +/- SE, 0.71 +/- 0.02) in patients with fused epiphyses and from 0.57 to 0.67 g/cm2 (mean, 0.61 +/- 0.01) in patients with open epiphyses, both of which were significantly (p less than 0.001) lower than normal. Spinal trabecular bone density, as assessed by computed tomography, was similarly decreased (p less than 0.0001) and ranged from 42 to 177 mg K2HPO4/cm3 (mean, 112 +/- 7). Cortical bone density was at least 2 SD below normal in 16 of 23 men, and 8 men had spinal bone densities below the fracture threshold of 80 to 100 mg K2HPO4/cm3. Osteopenia was equally severe in men with immature and mature bone ages, suggesting that abnormal bone development plays an important role in the osteopenia of men with idiopathic hypogonadotropic hypogonadism

  8. Truncating Homozygous Mutation of Carboxypeptidase E (CPE in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

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    Suzanne I M Alsters

    Full Text Available Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68. Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.

  9. Male hypogonadism at a tertiary care hospital in Karachi, Pakistan.

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    Ram, Nanik; Asghar, Ali; Hashmi, Fauzan; Islam, Najmul

    2012-01-01

    Male hypogonadism is defined as 'inadequate gonadal function, manifested by deficiency in gametogenesis and/or secretion of gonadal hormones'. Signs and symptoms of hypogonadism depend primarily on the age of onset. It can be classified according to the site primarily involved: the gonads, the hypothalamus, or the pituitary gland. The objective this study was to determine the presentation and aetiology of male hypogonadism seen in a tertiary care hospital. This cross-sectional study was conducted at Endocrine Clinics, Aga Khan University Hospital Karachi. Data of male patients with hypogonadism who attended clinics during January 2009 to August 2011 were reviewed. All male patients with clinical and biochemical evidence of hypogonadism were included in the study. Patients with Diabetes Mellitus, Metabolic Syndrome, Andropause, AIDS, Chronic Renal Failure, and Cirrhosis were excluded. Mean +/- SD were computed for quantitative variables. Frequency and percentages were computed for qualitative variables. Aetiology of male hypogonadism was categorised as primary and secondary hypogonadism. A total of 85 patients with male hypogonadism attended the endocrine clinic. Mean age of patients was 25 +/- 10 years. Clinical presentations were small genitalia (65%), absent secondary sexual characteristics (53%), not attained puberty (47%), infertility (53%), erectile dysfunction (41%) and loss of libido (29%). Seventy-three (86%) patients had hypogonadotrophic hypogonadism (secondary hypogonadism) and 12 (14%) patients had hypergonadotrophic hypogonadism (primary hypogonadism). Among the patients with hypogonadotrophic hypogonadism 38 had idiopathic hypogonadotrophic hypogonadsim, 7 had pituitary adenoma, 6 had empty sella syndrome, 3 had Kallman's syndrome, and 1 patient had haemosiderosis due to thalassaemia major; 18 patients did not undergo brain imaging. Small genitalia, absent secondary sexual characteristics and infertility were the main presenting features of hypogonad

  10. Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

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    Topaloğlu, A. Kemal

    2017-01-01

    Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-...

  11. Kallman syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging

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    Vogl, T.J.; Stemmler, J.; Bergman, C.; Balzer, J.O.; Felix, R. [Free Univ. of Berlin (Germany); Heye, B.; Schopohl, J.; Danek, A. [Univ. of Munich (Germany)

    1994-04-01

    To identify morphologic differences between Kallman syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) and establish a role for magnetic resonance (MR) imaging in these disorders. Twenty-eight patients were compared with 10 eugonal male volunteers. Eighteen patients had KS (hypogonadotropic hypogonadism with anosmia) and 10 had IHH. All participants underwent hormone analysis, a sniff-bottle smell test, and gadolinium-enhanced MR imaging. Changes in the hypothalamic-hypophyseal region and the rhinencephalon were evaluated. MR imaging revealed intracranial morphologic changes in all patients on plain T1-weighted sections. Seventeen patients with KS demonstrated aplasia of an olfactory bulb; one olfactory sulcus was absent in six, rudimentary in four, and normal in eight. Olfactory bulbs were present in all 10 IHH patients and three showed one slightly hypoplastic bulb. Ten patients with KS and three with IHH showed an enlarged paranasal sinus system. Further MR findings were similar. MR imaging demonstrates abnormalities of the rhinencephalon present in KS patients and occasionally absent in IHH patients. 18 refs., 10 figs., 1 tab.

  12. A Network Investigation on Idiopathic Hypogonadotropic Hypogonadism in China

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    Weiwei Zhao

    2013-01-01

    Full Text Available Idiopathic hypogonadotropic hypogonadism (IHH is a rare condition in which puberty does not take place naturally. We aimed to develop and follow an internet-based cohort and to improve our understanding of the disease. We established an internet-based questionnaire survey. A total of 74 male IHH patients were recruited from the Chinese largest IHH network social group. The clinical symptoms before treatment mainly included small testis, underdeveloped secondary sexual characteristics, and sexual dysfunction. After treatment, the penis length, testicular volume, external genital organ development, pubic hair, beard, laryngeal prominence, erection, and spermatorrhea were improved significantly (P<0.001. 18.9% of the patients completed fertility; however, more than half of the patients still complained of poor happiness and low physical strength. In addition, improvements in penis and pubic hair development, testosterone normalization and the physical strength in IHH patients who received gonadotropin and androgen replacement therapy were better than in those who received single gonadotropin therapy (P<0.05 for all. In conclusion, disease-specific network investigation can be used as an alternative method of medical research for rare diseases. The results of our cross-sectional study showed the effectiveness of hormone replacement therapy for IHH and implied that gonadotropin and androgen replacement therapy may be superior to gonadotropin treatment alone.

  13. Evaluation of the pituitary gland in idiopathic hypogonadotropic hypogonadism

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    Jayasundar, R.; Raghunathan, P.; Ammini, A.C.; Gupta, R.

    1999-01-01

    Purpose: Evaluation of the pituitary gland has been carried out in idiopathic hypogonadotropic hypogonadism (IHH) to test the potential of MR imaging in differentiating IHH patients from normals. Material and Methods: Thirty-seven patients (aged 18-30 years), and 20 volunteers (aged 20-30 years) were studied by T1-weighted MR imaging. Length (L A and L P ), height (H), width (W), area (A A and A P ), and volume (V 1A , V 1P , V 2A , V 2P ) of the pituitary gland were determined. (Subscripts P and A refer to measurements made with and without the posterior lobe, respectively.) V 1 and V 2 were estimated using two different methods. Results: in the control group, L P , W and V 2A exhibited significant differences between female and male volunteers. While W was the only parameter that did not show significant difference between normals and patients (in both men and women), all other parameters except L P , H and A P showed statistically significant differences between normals and IHH patients in both males and females. While L P was significantly different between normals and patients (men), H and A P were significantly different between normals and patients only in the female group. Conclusion: Correlation analysis between various parameters has shown that L A can be used for evaluating the pituitary in both the male and female IHH patients. (orig.)

  14. Gonadotropins in Infertile Men with Idiopathic Hypogonadotropic Hypogonadism

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    Homayoun Abbasi

    2009-01-01

    Full Text Available Background: Stimulatory therapy with gonadotrpins is an effective treatment to inducespermatogenesis in men with idiopathic hypogonadotroptic hypogonadism (IHH. The aim ofthis study was to assess the effectiveness of human chorionic gonadotropin / human menopausalgonadotropin on hypogonadotropic infertile men.Materials and Methods: This study included fifty-six azoospermic infertile men with IHH treatedwith hCG / hMG. All patients received hCG (5000 IU, IM3 times /week for three months. Afterthat, treatment was continued combined with hMG (75 IU, IM 3 times/week. Semen analysis wasperformed every 3 months. After 15 months, fine needle aspiration was performed if the patientswere azoospermic. Treatment continued if mature spermatozoa were present in FNA, otherwisetreatment was discontinued. In the former cases, semen analysis was requested 24months afterthebeginning of treatment.Results: In this study, spermatozoa were present in the ejaculate in 50 out of 56 patients (89.2%after combined treatment. Average time of sperm appearance was 9.2 months. Mean spermconcentration was 9.12 x 106/ml. FNA carried out after 15 months of treatment in 23(41% ofpatients with persistent azoospermia, 91.3% of these latter patients had mature spermatozoa on fineneedle aspiration. Pregnancy occurred in 23 (41% cases.The mean sperm concentration in patients whose spouses became pregnant was 15.56x 10.6Conclusion: hCG/ hMG combination therapy is effective treatment for fertility in patients withIHH. FNA can be used as a safe and suitable tool to evaluate patients that remains azoospermicafter 15 month of treatment.

  15. Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.

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    Topaloğlu, A Kemal

    2017-12-30

    Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases. It is now well established that about 10-20% of IHH cases recover from IHH either spontaneously or after receiving some sex steroid replacement therapy. Moreover, there may be an overlap or transition between constitutional delay in growth and puberty (CDGP) and IHH. It has been increasingly observed that oligogenic inheritance and clinical recovery complicates the phenotype/genotype relationship in IHH, thus making it challenging to find new IHH-associated genes. In a clinical sense, recognizing those IHH genes and associated phenotypes may improve our diagnostic capabilities by enabling us to prioritize the screening of particular gene(s) such as synkinesia (ANOS1), dental agenesis (FGF8/FGFR1) and hearing loss (CHD7). Also, IHH-associated gene studies may be translated into new therapies such as for polycystic ovary syndrome. In a scientific sense, the most significant contribution of IHH-associated gene studies has been the characterization of the long-sought gonadotropin releasing hormone pulse generator. It appears that genetic studies of IHH will continue to advance our knowledge in both the biological and clinical domains.

  16. Evaluation of the pituitary gland in idiopathic hypogonadotropic hypogonadism

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    Jayasundar, R.; Raghunathan, P. [All India Inst. of Medical Sciences, New Delhi (India). Dept. of NMR; Ammini, A.C. [All India Inst. of Medical Sciences, New Delhi (India). Dept. of Endocrinology and Metabolism; Gupta, R. [All India Inst. of Medical Sciences, New Delhi (India). Dept. of Radiodiagnosis

    1999-01-01

    Purpose: Evaluation of the pituitary gland has been carried out in idiopathic hypogonadotropic hypogonadism (IHH) to test the potential of MR imaging in differentiating IHH patients from normals. Material and Methods: Thirty-seven patients (aged 18-30 years), and 20 volunteers (aged 20-30 years) were studied by T1-weighted MR imaging. Length (L{sub A} and L{sub P}), height (H), width (W), area (A{sub A} and A{sub P}), and volume (V{sub 1A}, V{sub 1P}, V{sub 2A}, V{sub 2P}) of the pituitary gland were determined. (Subscripts P and A refer to measurements made with and without the posterior lobe, respectively.) V{sub 1} and V{sub 2} were estimated using two different methods. Results: in the control group, L{sub P}, W and V{sub 2A} exhibited significant differences between female and male volunteers. While W was the only parameter that did not show significant difference between normals and patients (in both men and women), all other parameters except L{sub P}, H and A{sub P} showed statistically significant differences between normals and IHH patients in both males and females. While L{sub P} was significantly different between normals and patients (men), H and A{sub P} were significantly different between normals and patients only in the female group. Conclusion: Correlation analysis between various parameters has shown that L{sub A} can be used for evaluating the pituitary in both the male and female IHH patients. (orig.)

  17. Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic.

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    Öztin, Hasan; Çağıltay, Eylem; Çağlayan, Sinan; Kaplan, Mustafa; Akpak, Yaşam Kemal; Karaca, Nilay; Tığlıoğlu, Mesut

    2016-12-01

    Male hypogonadism is defined as the deficiency of testosterone or sperm production synthesized by testicles or the deficiency of both. The reasons for hypogonadism may be primary, meaning testicular or secondary, meaning hypothalamohypophyseal. In hypogonadotropic hypogonadism (HH), there is indeficiency in gonadotropic hormones due to hypothalamic or hypophyseal reasons. Gonadotropin-releasing hormone (GnRH) is an important stimulant in releasing follicular stimulant hormone (FSH), mainly luteinizing hormone (LH). GnRH omitted is under the effect of many hormonal or stimulating factors. Kisspeptin is present in many places of the body, mostly in hypothalamic anteroventral periventricular nucleus and arcuate nucleus. Kisspeptin has a suppressor effect on the metastasis of many tumors such as breast cancer and malign melanoma metastases, and is called "metastin" for this reason. Kisspeptin is a strong stimulant of GnRH. In idiopathic hypogonadotropic hypogonadism (IHH) etiology, there is gonadotropic hormone release indeficiency which cannot be clearly described. A total of 30 male hypogonatropic hypogonadism diagnosed patients over 30 years of age who have applied to Haydarpasa Education Hospital Endocrinology and Metabolic Diseases Service were included in the study. Compared to the control group, the effect of kisspeptin on male patients with hypogonatropic hypogonadism and on insulin resistance developing in hypogonadism patients was investigated in our study. A statistically significant difference was detected between average kisspeptin measurements of the groups (p hypogonadism and has less effect on insulin resistance.

  18. Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism

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    Bindu Kulshreshtha

    2013-01-01

    Full Text Available Background: Onset of puberty in boys usually occurs by 14 years of age. Some boys may exhibit delayed sexual maturation till about 17-18 years of age. However, pubertal onset beyond 18 years of age is exceedingly rare. Materials and Methods: Patients diagnosed as idiopathic hypogonadotropic hypogonadism (IHH who had onset of puberty (increase in testicular volume >10 ml while on androgen therapy were studied. These patients were evaluated prospectively. Results: There were nine subjects that were included in the study. The pre-therapy testicular volumes ranged from 3 to 6 ml. Luteinizing hormone (LH levels increased from 1.2 ± 0.96 to 2.8 ± 1.0 IU/L, follicular stimulating hormone (FSH levels increased from 1.5 ± 0.79 to 3.5 ± 1.9 IU/L, and testosterone increased from 0.36 ± 0.16 to 3.4 ± 2.1 ng/ml. Three out of nine patients had testosterone levels below 3 ng/ml. Conclusion: Our present study indicates that pubertal development can occur in patients presenting with hypogonadotropic hypogonadism after 18 years of age. However, acquired pubertal status may be subnormal

  19. Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism.

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    Doğan, Berçem Ayçiçek; Karakılıç, Ersen; Tuna, Mazhar Müslüm; Arduç, Ayşe; Berker, Dilek; Güler, Serdar

    2015-03-01

    Idiopathic hypogonadotropic hypogonadism is a rare disorder. This study evaluated the effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with this disorder. Forty-three male patients aged 30 (range: 24-39 years) who were newly diagnosed with idiopathic hypogonadotropic hypogonadism and 20 age-, sex- and weight-matched controls (range: 26-39 years) were included in the study. Androgen replacement therapy was given according to the Algorithm of Testosterone Therapy in Adult Men with Androgen Deficiency Syndromes (2010; Journal of Clinical Endocrinology and Metabolism, 95, 2536). The patients were assessed at a pretreatment visit and 3 and 6 months after the treatment. Inflammatory markers and lipid parameters were evaluated. Endothelial function was assessed with brachial flow-mediated dilation of a brachial artery and high-resolution ultrasonography of the carotid intima-media thickness. The carotid intima-media thickness (P hypogonadism compared to the control subjects at the pretreatment visit. There was a negative correlation between the total testosterone level and carotid intima-media thickness (r = -0·556, P = hypogonadism and that androgen replacement therapy significantly reduces atherosclerotic risk markers in these patients after 6 months. © 2014 John Wiley & Sons Ltd.

  20. Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism

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    Rui-yi Tang

    2017-11-01

    Full Text Available Objective: To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH. Methods: We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management and fertility outcomes of 138 women with IHH. All patients had been treated and followed up at an academic medical centre during 1990–2016. Results: Among the 138 patients, 82 patients (59.4% were diagnosed with normosmic IHH and 56 patients (40.6% were diagnosed with Kallmann syndrome (KS. The patients with IHH experienced occasional menses (4.3%, spontaneous thelarche (45.7% or spontaneous pubarche (50.7%. Women with thelarche had a higher percentage of pubarche (P < 0.001 and higher gonadotropin concentrations (P < 0.01. Olfactory bulb/sulci abnormalities were found during the magnetic resonance imaging (MRI of all patients with KS. Most patients with IHH had osteopenia and low bone age. Among the 16 women who received gonadotropin-releasing hormone treatment, ovulation induction or assisted reproductive technology, the clinical pregnancy rate was 81.3% and the live birth rate was 68.8%. Conclusions: The present study revealed that the phenotypic spectrum of women with IHH is broader than typical primary amenorrhoea with no secondary sexual development, including occasional menses, spontaneous thelarche or pubarche. MRI of the olfactory system can facilitate the diagnosis of KS. Pregnancy can be achieved after receiving appropriate treatment.

  1. A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

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    Zhu, Jia; Choa, Ruth E.-Y.; Guo, Michael H.; Plummer, Lacey; Buck, Cassandra; Palmert, Mark R.; Hirschhorn, Joel N.; Seminara, Stephanie B.

    2015-01-01

    Context: Delayed puberty (DP) is a common issue and, in the absence of an underlying condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic cause for DP has yet been reported. In contrast, many genetic causes have been found for idiopathic hypogonadotropic hypogonadism (IHH), a rare disorder characterized by absent or stalled pubertal development. Objective: The objective of this retrospective study, conducted at academic medical centers, was to determine whether variants in IHH genes contribute to the pathogenesis of DP. Subjects and Outcome Measures: Potentially pathogenic variants in IHH genes were identified in two cohorts: 1) DP family members of an IHH proband previously found to have a variant in an IHH gene, with unaffected family members serving as controls, and 2) DP individuals with no family history of IHH, with ethnically matched control subjects drawn from the Exome Aggregation Consortium. Results: In pedigrees with an IHH proband, the proband's variant was shared by 53% (10/19) of DP family members vs 12% (4/33) of unaffected family members (P = .003). In DP subjects with no family history of IHH, 14% (8/56) had potentially pathogenic variants in IHH genes vs 5.6% (1 907/33 855) of controls (P = .01). Potentially pathogenic variants were found in multiple DP subjects for the genes IL17RD and TAC3. Conclusions: These findings suggest that variants in IHH genes can contribute to the pathogenesis of self-limited DP. Thus, at least in some cases, self-limited DP shares an underlying pathophysiology with IHH. PMID:25636053

  2. Effects of androgen replacement therapy on cornea and tear function in men with idiopathic hypogonadotropic hypogonadism.

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    Gokce, Gokcen; Hurmeric, Volkan; Mumcuoglu, Tarkan; Ozge, Gokhan; Basaran, Yalcin; Unal, Hilmi Umut; Bolu, Erol; Mutlu, Fatih Mehmet

    2015-05-01

    Idiopathic hypogonadotropic hypogonadism (IHH) is an endocrine disorder defined with the presence of typical clinical signs and symptoms plus laboratory confirmation of serum testosterone (T) levels lower than 300 ng/dl. Androgen replacement therapy (ART) is the first-step treatment of male IHH. To date, no clinical trial, which investigates the changes on corneal structure and tear function, of systemic ART in men have been published. The objective of this study was to investigate the effects of ART on cornea and tear function in patients with IHH. This prospective, interventional study was conducted at the Gulhane Military Medical Academy, Ankara, Turkey, a tertiary referral military hospital. Thirty-four eyes of 17 men with IHH patients were evaluated with Schirmer I test, ultrasound pachymeter, applanation tonometer and confocal microscopy. A Testosterone compound (Sustanon® 250 mg) was administered by intramuscular injection in the course of a 3-week period to induce puberty, and human chorionic gonadotropin (Pregnyl® 5000 IU) was administered twice weekly for 3 months to induce fertility. The patients were re-evaluated at the third month of the treatment. Main Outcome Measures were Schirmer score, central corneal thickness (CCT), intraocular pressure (IOP), endothelial cell density, coefficient of variation and cell shape. Schirmer scores showed similar results after the treatment compared to pre-treatment levels (p = 0.14). There was no statistically significant difference in CCT and IOP compared to baseline data (p = 0.96, p = 0.73, respectively), and no significant differences were found in corneal endothelial cell density, percentage of cell size variability or hexagonality (p = 0.83, p = 0.58, p = 0.64, respectively). This is the first study that investigates the effects of ART on corneal structure and tear function in men. ART seems to have no short-term effects on corneal structure and tear function. Further publications of larger, long-term and

  3. [Spermatogenesis of pulsatile gonadotropin-releasing hormone infusion versus gonadotropin therapy in male idiopathic hypogonadotropic hypogonadism].

    Science.gov (United States)

    Huang, Bingkun; Mao, Jiangfeng; Xu, Hongli; Wang, Xi; Liu, Zhaoxiang; Nie, Min; Wu, Xueyan

    2015-05-26

    To compare the efficacies of pulsatile gonadotropin-releasing hormone (GnRH) versus human chorionic gonadotropin/human menopausal gonadotropin (HCG/HMG) for spermatogenesis in male idiopathic hypogonadotropic hypogonadism (IHH). For this retrospective study, a total of 92 male IHH outpatients from May 2010 to October 2014 were recruited and categorized into GnRH (n = 40) and HCG/HMG (n = 52) groups. Each subject selected one specific therapy voluntarily. The gonadotropin levels were measured in the first week and monthly post-treatment in GnRH group. And serum total testosterone (TT), testicular volume (TV) and rate of spermatogenesis were observed monthly post-treatment in two groups. Spermatogenesis, TT and TV were compared between two groups. All IHH patients were treated for over 3 months. The median follow-up periods in GnRH and HCG/HMG groups was 8.2 (3.0-18.4) and 9.2 (3.0-18.6) months respectively (P = 0.413). In GnRH group, LH ((0.5 ± 0.6) vs (3.4 ± 2.4) U/L, P treatment. In GnRH group, at the end of follow-up, TT ((1.0 ± 1.0) vs (7.4 ± 5.2) nmol/L, P treatment time for initial sperm appearance than HCG/HMG group ((6.5 ± 3.1) vs (10.8 ± 3.7) months, P = 0.001). Pulsatile GnRH requires a shorter time for initiation of spermatogenesis than gonadotropin therapy in IHH male patients.

  4. Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients

    Science.gov (United States)

    Mao, Jiang-Feng; Xu, Hong-Li; Duan, Jin; Chen, Rong-Rong; Li, Li; Li, Bin; Nie, Min; Min, Le; Zhang, Hong-Bing; Wu, Xue-Yan

    2015-01-01

    Although idiopathic hypogonadotropic hypogonadism (IHH) has traditionally been viewed as a life-long disease caused by a deficiency of gonadotropin-releasing hormone neurons, a portion of patients may gradually regain normal reproductive axis function during hormonal replacement therapy. The predictive factors for potential IHH reversal are largely unknown. The aim of our study was to investigate the incidence and clinical features of IHH male patients who had reversed reproductive axis function. In this retrospective cohort study, male IHH patients were classified into a reversal group (n = 18) and a nonreversal group (n = 336). Concentration of gonadotropins and testosterone, as well as testicle sizes and sperm counts, were determined. Of 354 IHH patients, 18 (5.1%) acquired normal reproductive function during treatment. The median age for reversal was 24 years old (range 21–34 years). Compared with the nonreversal group, the reversible group had higher basal luteinizing hormone (LH) (1.0 ± 0.7 IU l-1 vs 0.4 ± 0.4 IU l−1, P < 0.05) and stimulated LH (28.3 ± 22.6 IU l−1 vs 1.9 ± 1.1 IU l−1, P < 0.01) levels, as well as larger testicle size (5.1 ± 2.6 ml vs 1.5 ± 0.3 ml, P < 0.01), at the initial visit. In summary, larger testicle size and higher stimulated LH concentrations are favorite parameters for reversal. Our finding suggests that reversible patients may retain partially active reproductive axis function at initial diagnosis. PMID:25578938

  5. Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients

    Directory of Open Access Journals (Sweden)

    Jiang-Feng Mao

    2015-06-01

    Full Text Available Although idiopathic hypogonadotropic hypogonadism (IHH has traditionally been viewed as a life-long disease caused by a deficiency of gonadotropin-releasing hormone neurons, a portion of patients may gradually regain normal reproductive axis function during hormonal replacement therapy. The predictive factors for potential IHH reversal are largely unknown. The aim of our study was to investigate the incidence and clinical features of IHH male patients who had reversed reproductive axis function. In this retrospective cohort study, male IHH patients were classified into a reversal group (n = 18 and a nonreversal group (n = 336. Concentration of gonadotropins and testosterone, as well as testicle sizes and sperm counts, were determined. Of 354 IHH patients, 18 (5.1% acquired normal reproductive function during treatment. The median age for reversal was 24 years old (range 21-34 years. Compared with the nonreversal group, the reversible group had higher basal luteinizing hormone (LH (1.0 ± 0.7 IU l -[1] vs 0.4 ± 0.4 IU l−1 , P< 0.05 and stimulated LH (28.3 ± 22.6 IU l−1 vs 1.9 ± 1.1 IU l−1 , P< 0.01 levels, as well as larger testicle size (5.1 ± 2.6 ml vs 1.5 ± 0.3 ml, P< 0.01, at the initial visit. In summary, larger testicle size and higher stimulated LH concentrations are favorite parameters for reversal. Our finding suggests that reversible patients may retain partially active reproductive axis function at initial diagnosis.

  6. Hormonal therapy (hCG and rhFSH) for infertile men with adult-onset idiopathic hypogonadotropic hypogonadism.

    Science.gov (United States)

    Kobori, Yoshitomo; Suzuki, Keisuke; Iwahata, Toshiyuki; Shin, Takeshi; Sato, Ryo; Nishio, Kojiro; Yagi, Hiroshi; Arai, Gaku; Soh, Shigehiro; Okada, Hiroshi

    2015-04-01

    Adult-onset idiopathic male hypogonadotropic hypogonadism (IMHH) is a very rare but treatable disease. This study was conducted to examine the efficacy and safety of a combination of human chorionic gonadotropin (hCG) and recombinant human follicle-stimulating hormone (rhFSH) for inducing spermatogenesis in men with adult-onset IMHH. Seven men (34-45 years of age) with azoospermia and/or sexual dysfunction, with a low serum testosterone concentration, and apulsatile secretion of luteinizing hormone, were referred to our hospital for infertility. All had normal secondary sexual characteristics. Thorough endocrinologic examination and magnetic resonance imaging revealed no identifiable cause of hypogonadotropic hypogonadism. Adult-onset IMHH was diagnosed in all cases and treatment was started with 150 IU rhFSH and 5,000 IU hCG, both administered two times per week. Spermatogenesis was restored in five of the seven patients. During treatment one patient achieved spontaneous pregnancy with his wife, and spermatozoa recovered from the other four patients were frozen for future use in intracytoplasmic sperm injection.

  7. Hypogonadotropic Hypogonadism Revisited

    Directory of Open Access Journals (Sweden)

    Renato Fraietta

    2013-01-01

    Full Text Available Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic. Hypogonadotropic hypogonadism can be congenital or acquired. Congenital hypogonadotropic hypogonadism is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism. The incidence of congenital hypogonadotropic hypogonadism is approximately 1-10:100,000 live births, and approximately 2/3 and 1/3 of cases are caused by Kallmann syndrome (KS and idiopathic hypogonadotropic hypogonadism, respectively. Acquired hypogonadotropic hypogonadism can be caused by drugs, infiltrative or infectious pituitary lesions, hyperprolactinemia, encephalic trauma, pituitary/brain radiation, exhausting exercise, abusive alcohol or illicit drug intake, and systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X. The clinical characteristics of hypogonadotropic hypogonadism are androgen deficiency and a lack/delay/stop of pubertal sexual maturation. Low blood testosterone levels and low pituitary hormone levels confirm the hypogonadotropic hypogonadism diagnosis. A prolonged stimulated intravenous GnRH test can be useful. In Kallmann syndrome, cerebral MRI can show an anomalous morphology or even absence of the olfactory bulb. Therapy for hypogonadotropic hypogonadism depends on the patient's desire for future fertility. Hormone replacement with testosterone is the classic treatment for hypogonadism. Androgen replacement is indicated for men who already have children or have no desire to induce pregnancy, and testosterone therapy is used to reverse the symptoms and signs of hypogonadism. Conversely, GnRH or gonadotropin therapies are the best options for men wishing to have children. Hypogonadotropic hypogonadism is one of the rare conditions in

  8. Hypogonadotropic Hypogonadism Revisited

    Science.gov (United States)

    Fraietta, Renato; Zylberstejn, Daniel Suslik; Esteves, Sandro C

    2013-01-01

    Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic). Hypogonadotropic hypogonadism can be congenital or acquired. Congenital hypogonadotropic hypogonadism is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism). The incidence of congenital hypogonadotropic hypogonadism is approximately 1-10:100,000 live births, and approximately 2/3 and 1/3 of cases are caused by Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism, respectively. Acquired hypogonadotropic hypogonadism can be caused by drugs, infiltrative or infectious pituitary lesions, hyperprolactinemia, encephalic trauma, pituitary/brain radiation, exhausting exercise, abusive alcohol or illicit drug intake, and systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X. The clinical characteristics of hypogonadotropic hypogonadism are androgen deficiency and a lack/delay/stop of pubertal sexual maturation. Low blood testosterone levels and low pituitary hormone levels confirm the hypogonadotropic hypogonadism diagnosis. A prolonged stimulated intravenous GnRH test can be useful. In Kallmann syndrome, cerebral MRI can show an anomalous morphology or even absence of the olfactory bulb. Therapy for hypogonadotropic hypogonadism depends on the patient's desire for future fertility. Hormone replacement with testosterone is the classic treatment for hypogonadism. Androgen replacement is indicated for men who already have children or have no desire to induce pregnancy, and testosterone therapy is used to reverse the symptoms and signs of hypogonadism. Conversely, GnRH or gonadotropin therapies are the best options for men wishing to have children. Hypogonadotropic hypogonadism is one of the rare conditions in which specific

  9. Obesity-related hypogonadism: a reversible condition.

    Science.gov (United States)

    Zouras, Stamatios; Stephens, Jeffrey W; Price, David

    2017-06-23

    Obesity is associated with hypogonadism. While this association is widely accepted, the underlying mechanisms remain unclear. Furthermore, obesity is a risk factor for hypogonadism and conversely hypogonadism may be a risk factor for obesity. We present the case of a morbidly obese man aged 30 years with hypogonadotrophic hypogonadism that underwent a Roux-en-Y gastric bypass operation. Following the surgical treatment of his obesity, the testosterone level returned to normal with improvements in hypogonadal symptoms, which allowed discontinuation of exogenous testosterone therapy. This case report demonstrates reversal of hypogonadism following weight loss with restoration of gonadal function. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  10. Anabolic steroid induced hypogonadism treated with human chorionic gonadotropin.

    OpenAIRE

    Gill, G. V.

    1998-01-01

    A case is presented of a young competitive body-builder who abused anabolic steroid drugs and developed profound symptomatic hypogonadotrophic hypogonadism. With the help of prescribed testosterone (Sustanon) he stopped taking anabolic drugs, and later stopped Sustanon also. Hypogonadism returned, but was successfully treated with weekly injections of human chorionic gonadotropin for three months. Testicular function remained normal thereafter on no treatment. The use of human chorionic gonad...

  11. Increases in bone density during treatment of men with idiopathic hypogonadotropic hypogonadism

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    Finkelstein, J.S.; Klibanski, A.; Neer, R.M.; Doppelt, S.H.; Rosenthal, D.I.; Segre, G.V.; Crowley, W.F. Jr. (Massachusetts General Hospital, Boston (USA))

    1989-10-01

    To assess the effects of gonadal steroid replacement on bone density in men with osteoporosis due to severe hypogonadism, we measured cortical bone density in the distal radius by 125I photon absorptiometry and trabecular bone density in the lumbar spine by quantitative computed tomography in 21 men with isolated GnRH deficiency while serum testosterone levels were maintained in the normal adult male range for 12-31 months (mean +/- SE, 23.7 +/- 1.1). In men who initially had fused epiphyses (n = 15), cortical bone density increased from 0.71 +/- 0.02 to 0.74 +/- 0.01 g/cm2 (P less than 0.01), while trabecular bone density did not change (116 +/- 9 compared with 119 +/- 7 mg/cm3). In men who initially had open epiphyses (n = 6), cortical bone density increased from 0.62 +/- 0.01 to 0.70 +/- 0.03 g/cm2 (P less than 0.01), while trabecular bone density increased from 96 +/- 13 to 109 +/- 12 mg/cm3 (P less than 0.01). Cortical bone density increased 0.03 +/- 0.01 g/cm2 in men with fused epiphyses and 0.08 +/- 0.02 g/cm2 in men with open epiphyses (P less than 0.05). Despite these increases, neither cortical nor trabecular bone density returned to normal levels. Histomorphometric analyses of iliac crest bone biopsies demonstrated that most of the men had low turnover osteoporosis, although some men had normal to high turnover osteoporosis. We conclude that bone density increases during gonadal steroid replacement of GnRH-deficient men, particularly in men who are skeletally immature.

  12. Increases in bone density during treatment of men with idiopathic hypogonadotropic hypogonadism

    International Nuclear Information System (INIS)

    Finkelstein, J.S.; Klibanski, A.; Neer, R.M.; Doppelt, S.H.; Rosenthal, D.I.; Segre, G.V.; Crowley, W.F. Jr.

    1989-01-01

    To assess the effects of gonadal steroid replacement on bone density in men with osteoporosis due to severe hypogonadism, we measured cortical bone density in the distal radius by 125I photon absorptiometry and trabecular bone density in the lumbar spine by quantitative computed tomography in 21 men with isolated GnRH deficiency while serum testosterone levels were maintained in the normal adult male range for 12-31 months (mean +/- SE, 23.7 +/- 1.1). In men who initially had fused epiphyses (n = 15), cortical bone density increased from 0.71 +/- 0.02 to 0.74 +/- 0.01 g/cm2 (P less than 0.01), while trabecular bone density did not change (116 +/- 9 compared with 119 +/- 7 mg/cm3). In men who initially had open epiphyses (n = 6), cortical bone density increased from 0.62 +/- 0.01 to 0.70 +/- 0.03 g/cm2 (P less than 0.01), while trabecular bone density increased from 96 +/- 13 to 109 +/- 12 mg/cm3 (P less than 0.01). Cortical bone density increased 0.03 +/- 0.01 g/cm2 in men with fused epiphyses and 0.08 +/- 0.02 g/cm2 in men with open epiphyses (P less than 0.05). Despite these increases, neither cortical nor trabecular bone density returned to normal levels. Histomorphometric analyses of iliac crest bone biopsies demonstrated that most of the men had low turnover osteoporosis, although some men had normal to high turnover osteoporosis. We conclude that bone density increases during gonadal steroid replacement of GnRH-deficient men, particularly in men who are skeletally immature

  13. Clinical pregnancy in a woman with idiopathic hypogonadotropic hypogonadism and low AMH: utility of ovarian reserve markers in IHH.

    Science.gov (United States)

    Chan, Crystal; Liu, Kimberly

    2014-10-01

    Serum anti-mullerian hormone (AMH) has been proposed as a useful marker of ovarian reserve that is cycle-independent and predictive of outcome in assisted reproduction cycles. However, there is evidence that AMH production is gonadotropin-dependent, and that under the influence of FSH, growing follicles contribute to circulating AMH levels. Therefore, AMH testing may not be universally reflective of the primordial follicle pool in certain conditions. We demonstrate that in patients with idiopathic hypogonadotropic hypogonadism (IHH) and deficient gonadotropin production, AMH and antral follicle count (AFC) may not be reliable markers of ovarian reserve. Case report. Fertility clinic at a tertiary academic hospital. A 30-year-old nulligravid patient with IHH who presented for fertility treatment with low FSH (0.3 IU/L), LH (0.1 IU/L), estradiol (77 pmol/L) and AMH levels (0.65 pmol/L), and an unmeasurable AFC. A three-month course of priming with oral micronized 17β-estradiol, followed by daily injections of human menopausal gonadotropins (hMG). AMH level and follicular development. After 60 days of stimulation with hMG, the patient's AMH level increased to a peak of 1.27 pmol/L. After 102 days of stimulation, her estradiol level rose to 480 pmol/L and a 19 mm dominant follicle was detected. The patient successfully conceived with intrauterine insemination. Ovarian reserve testing in patients with IHH can be challenging due to the contracted appearance of the ovaries and deficient FSH production. In these patients, AMH levels may underestimate ovarian reserve due to the lack of FSH-dependent growing follicles. When treated with a long course of hMG, these patients may exhibit increased AMH levels and demonstrate adequate follicular development.

  14. Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma.

    Science.gov (United States)

    Ali, Liaqat; Adeel, Afrose

    2012-01-01

    The prevalence of Idiopathic Hypogonadotropic Hypogonadism (IHH) is approximately 1 in 10,000 men. Objectives of this study were to evaluate the role of basal and stimulated serum prolactin in differentiating Constitutional Delayed Puberty (CDP) from IHH. This cross-sectional study was carried out at the Department of Diabetes and Endocrinology, Military Hospital, Rawalpindi. A total of 20 male patients presenting with provisional diagnosis of IHH/CDP were enrolled in the study. Patients with known diseases were excluded from the study. Baseline FSH, LH, testosterone, and prolactin were estimated and the patients were subjected to provocative prolactin stimulation by Thyrotropin releasing hormone stimulation (TRH) test and chlorpromazine challenge. At each 6 monthly follow-up visit for 4 years, the patients were evaluated for adrenarche, pubarche and other secondary sexual characters. Tanner scale was taken as standards for comparing stage of puberty at a particular age. No treatment was given to both groups for 2 years. At the end of 2 years IHH patients with failed puberty or progression of puberty and CDP who lagged behind by more than 2 years by Tanner scale or 4 years per bone age with compelling psychosocial or psychosexual reasons at school or at home were given short courses of 50 mg injection testosterone in an attempt to expedite the onset or progression of puberty. Patients from either group with failed puberty after low dose testosterone were managed with high dose testosterone therapy to induce secondary sexual characters. Twenty patients enrolled in the study were provisionally divided into 2 groups called IHH (n = 9), and CDP (n = 11) based on high basal and provocative serum prolactin levels in CDP group. Two patients from CDP group were lost in the follow-up leaving 9 patients in each group. A total of 10 (56%) patients, 3 (17%) from IHH group and 7 (39%) from CDP group achieved grade 4 puberty without any treatment. Remaining 8 (44%) patients, 6

  15. [Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].

    Science.gov (United States)

    Qin, Miao; Gong, Chunxiu; Qi, Zhan; Wu, Di; Liu, Min; Gu, Yi; Cao, Bingyan; Li, Wenjing; Liang, Xuejun

    2014-12-01

    To summarize the clinical features of idiopathic hypogonadotropic hypogonadism (IHH) diagnosed during childhood, and detect mutations in KAL1 and FGFR1, acting as key clues for diagnoses. We collected and analyzed clinical data of 21 cases (including demographic data, chief complaint, history of present illness, family history, physical examination, laboratory tests and imaging studies, etc.) diagnosed with IHH from December 2008 to February 2013. Polymerase chain reaction and gene sequencing was applied to detect mutations on KAL1 and FGFR1. Fifty healthy unrelated individuals were choosen as controls. Of 21 patients with IHH, 19 were males and 2 females, they visited us initially from 8-17 years old, with an average of (13.58 ± 2.38) years old. Sixteen cases were KS patients (76%). One boy reported abnormal sense of smelling but having olfactory perfect picture on MRI; 2/19 male cases had no puberty when they were over 13-14 years old without abnormal external genitalia. 8/19 cases only had small penis, 8/19 had both of cryptorchidism and small penis, and the Case 2 also had hypospadias. One boy had cryptorchidism combined with a normal penis. Only 2 girls diagnosed as IHH who visited us because of no puberty signs when they were 13 and 16 years old, respectively. Other clinical manifestations included: one with gynecomastia, 2 had mental retardation, and one was deaf; one with high palatal arch; one with mirror-movement and one with left renal agenesis but normal renal function respectively. Laboratory tests showed that the basic testosterone (T) is low and with inappropriately low or normal gonadotropin hormones. The results of cases of standard human chorionic gonadotropin (HCG) test of 7 cases out of 19 male children's were normal (testosterone>1 100 ng/L), and another nine cases continued to complete the extended HCG test, and the testosterone levels of two of them (cases 6, 8) were still lower than 1 000 ng/L. Family history: the parents in 9/21 family had

  16. MRI in haemochromatosis: pituitary versus testicular iron deposition in five patients with hypogonadism

    International Nuclear Information System (INIS)

    Miaux, Y.; Daurelle, P.; Zagdanski, A.M.; Passa, P.; Bourrier, P.; Frija, J.

    1995-01-01

    Haemochromatosis is a disease characterised by iron deposition in the liver and other organs. Hypogonadism is a commonly associated condition and may be either primary due to testicular lesions or secondary due to pituitary dysfunction. Hypogonadism secondary to pituitary dysfunction is more frequent and is thought to be related to iron deposition in the anterior pituitary. Increased iron content decreases signal intensity of spin-echo MRI images because T2 values are significantly shortened. Our purpose in this study was to evaluate by MRI iron deposition in the liver, testis and pituitary of 6 patients with haemochromatosis and severe hypogonadotrophic hypogonadism. Six subjects served as controls. There was a significant T2 shortening of the liver and pituitary in patients with haemochromatosis compared with control patients. Therefore MRI detected iron overload in the pituitary and no iron in the testis, supporting the hypothesis of hypogonadotrophic pituitary insufficiency due to cellular damage induced by iron overload in the anterior pituitary gland. (orig.)

  17. Hypogonadotrophic short statured with anosmia: kallmann's syndrome

    International Nuclear Information System (INIS)

    Tarique, S.; Abaidullah, S.; Cheema, T.M.; Iqbal, M.H.

    2010-01-01

    Short stature with loss of secondary sex characters can occur due to genetic disorders. One of them is Kallmann's syndrome. The condition has been noted to be present in families. It is associated with anosmia and hypogonadism. We are presenting a case of young boy who was short statured and had anosmia with multiple hormonal deficiencies. (author)

  18. Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism.

    Science.gov (United States)

    Wang, Wen-Bo; She, Fei; Xie, Li-Fang; Yan, Wen-Hua; Ouyang, Jin-Zhi; Wang, Bao-An; Ma, Hang-Yun; Zang, Li; Mu, Yi-Ming

    2016-05-20

    Prolonged gonadal hormone deficiency in patients with idiopathic hypogonadotropic hypogonadism (IHH) may produce adverse effects on the endocrine homeostasis and metabolism. This study aimed to compare basal serum adrenocorticotropic hormone (ACTH) and cortisol levels between male IHH patients and healthy controls. Moreover, this study compared the basal hypothalamic-pituitary-adrenal (HPA) axis in patients with and without nonalcoholic fatty liver disease (NAFLD), and also evaluated the relationship between basal HPA axis and NAFLD in male IHH patients. This was a retrospective case-control study involving 75 Chinese male IHH patients (mean age 21.4 ± 3.8 years, range 17-30 years) and 135 healthy controls after matching for gender and age. All subjects underwent physical examination and blood testing for serum testosterone, luteinizing hormone, follicle-stimulating hormone, ACTH, and cortisol and biochemical tests. Higher basal serum ACTH levels (8.25 ± 3.78 pmol/L vs. 6.97 ± 2.81 pmol/L) and lower cortisol levels (366.70 ± 142.48 nmol/L vs. 452.82 ± 141.53 nmol/L) were observed in male IHH patients than healthy subjects (all pIHH patients also showed higher metabolism parameters and higher prevalence rate of NAFLD (34.9% vs. 4.4%) than the controls (all P IHH patients with NAFLD than those without NAFLD (all P IHH patients. Furthermore, NAFLD was independently associated with ACTH levels in male IHH patients by multiple linear regression analysis. The male IHH patients showed higher basal serum ACTH levels and lower cortisol levels than matched healthy controls. NAFLD was an independent associated factor for ACTH levels in male IHH patients. These preliminary findings provided evidence of the relationship between basal serum ACTH and NAFLD in male IHH patients.

  19. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

    Science.gov (United States)

    Miura, Kiyonori; Acierno, James S; Seminara, Stephanie B

    2004-01-01

    As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. We report here characterization of NELF and results of mutation analysis in 65 IHH patients. Assembling EST clones, RACE, and sequencing showed that NELF mapped to 9q34.3 is composed of 16 exons and 15 introns with a 1,590-bp ORF encoding 530 amino acids. RT-PCR on a fetal brain cDNA library revealed five alternatively spliced variants. Among them, NELF-v1 has 93-94% identity at the amino acid level to mouse/rat Nelf, and four other transcripts are also highly conserved among the three species. A 3.0-kb transcript is expressed most highly in the adult and fetal brain, testis, and kidney, indicating that NELF plays a role in the function of these tissues. Mutation screening detected in a patient with IHH one novel heterozygous missense mutation (1438A>G, T480A) at the donor-splice site in exon 15 of NELF. As this mutation was not found in 100 normal control individuals, T480A may be associated with IHH. Four other novel SNPs (102C > T and 1029C > T within the coding region, and two IVS14+47C > T and IVS15+41G > A) were also identified in NELF.

  20. Treatment of idiopathic hypogonadotropic hypogonadism in men with luteinizing hormone-releasing hormone: a comparison of treatment with daily injections and with the pulsatile infusion pump.

    Science.gov (United States)

    Shargil, A A

    1987-03-01

    Thirty husbands in childless couples, aged 24 to 35 years, were treated with luteinizing hormone-releasing hormone (LH-RH) for idiopathic hypogonadotropic hypogonadism (IHH) of peripubertal (incomplete) type. They were azoospermic or oligospermic, with less than 1.5 X 10(6)/ml nonmotile spermatozoa. The diagnosis of IHH was based on clinical and laboratory features and testicular biopsy specimen study and was further supported by results of stimulation tests and gonadotropin-releasing hormone (GnRH) test. Two treatment modalities were used: subcutaneous injections of 500 micrograms LH-RH twice daily; and perpetual subcutaneous injection, via portable infusion pump, of 25 ng/kg LH-RH, at 90-minute intervals. Two patients required a short second period of pulsatile treatment to cause a second pregnancy of their spouses. The pump proved to yield better results, compared with intermittent injections, in respect to endocrine responses, spermatogenesis, and fertility capacity. Normal levels of luteinizing hormone and follicle-stimulating hormone were reached in 2 to 3 weeks and normal testosterone levels in 8 to 10 weeks from the start of treatment. Sperm counts rose to greater than 60 X 10(6)/ml viable spermatozoa with less than 15% of abnormal forms in 3 to 5 months, and the wives conceived. Of a total of 18 deliveries of healthy infants, 12 offspring were identified genetically with their fathers. Four women were still pregnant at the conclusion of the study. The pump was well tolerated, without special operational problems to the patients. Pulsatile treatment is therefore recommended in the treatment of well-diagnosed and carefully selected cases of incomplete IHH.

  1. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.

    Science.gov (United States)

    Demirbilek, Huseyin; Ozbek, M Nuri; Demir, Korcan; Kotan, L Damla; Cesur, Yasar; Dogan, Murat; Temiz, Fatih; Mengen, Eda; Gurbuz, Fatih; Yuksel, Bilgin; Topaloglu, A Kemal

    2015-03-01

    The spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism. Clinical characteristics, hormonal studies and genetic analyses of seven cases with idiopathic normosmic hypogonadotropic hypogonadism (nIHH) from three unrelated consanguineous families are presented. One male presented with absence of pubertal onset and required surgery for severe penoscrotal hypospadias and cryptorchidism, while other two males had absence of pubertal onset. Two of four female cases required replacement therapy for pubertal onset and maintenance, whereas the other two had spontaneous pubertal onset but incomplete maturation. In sequence analysis, we identified a novel homozygous nonsense (p.Y323X) mutation (c.C969A) in the last exon of the KISS1R gene in all clinically affected cases. We identified a homozygous nonsense mutation in the KISS1R gene in three unrelated families with nIHH, which enabled us to observe the phenotypic consequences of this rare condition. Escape from nonsense-mediated decay, and thus production of abnormal proteins, may account for the variable severity of the phenotype. Although KISS1R mutations are extremely rare and can cause a heterogeneous phenotype, analysis of the KISS1R gene should be a part of genetic analysis of patients with nIHH, to allow better understanding of phenotype-genotype relationship of KISS1R mutations and the underlying genetic basis of patients with nIHH. © 2014 John Wiley & Sons Ltd.

  2. Male Hypogonadism

    Science.gov (United States)

    ... the hormone that plays a key role in masculine growth and development during puberty — or has an ... Adulthood In adult males, hypogonadism may alter certain masculine physical characteristics and impair normal reproductive function. Signs ...

  3. Clinicopathologic assessment of hypogonadism in men with type 2 diabetes mellitus

    Science.gov (United States)

    Ugwu, Theophilus E.; Ikem, Rosemary T.; Kolawole, Babatope A.; Ezeani, Ignatius U.

    2016-01-01

    Objective: To determine the prevalence of hypogonadism in men with type 2 diabetes mellitus and evaluate its clinical and pathologic correlates. Subjects and Methods: In a cross-sectional survey of 200 type 2 diabetic males aged 32–69 years, total testosterone (TT), follicle stimulating hormone, luteinizing hormone, waist circumference (WC), glycated hemoglobin, and lipids were measured. Clinical assessment of androgen deficiency was done using the androgen deficiency in aging male (ADAM) questionnaire. Overt hypogonadism was defined as a combination of positive ADAM score and TT hypogonadism was defined as positive ADAM score with TT 8–12 nmol/L. Results: Overt and possible hypogonadism occurred in 29.5% and 23% of the participants, respectively. Majority (76.3%) of the subjects who had overt hypogonadism had the hypogonadotrophic pattern. Hypogonadal subjects were significantly older (P = 0.014) and had higher mean WC (P = 0.009) than eugonadal ones. Erectile dysfunction was the most common symptom, occurring in 79.7% of overtly hypogonadal subjects. There was a significant negative correlation between WC and serum TT (r = −0.41, P = 0.001). Conclusion: There is a high frequency of symptomatic hypogonadism in men with type 2 diabetes and the frequency increases with advancing age and visceral adiposity. PMID:27730078

  4. CLOMIPHENE CITRATE IN THE TREATMENT OF IDIOPATHIC OR FUNCTIONAL HYPOGONADOTROPIC HYPOGONADISM IN MEN: A CASE SERIES AND REVIEW OF THE LITERATURE.

    Science.gov (United States)

    Liel, Yair

    2017-03-01

    Late-onset hypogonadotropic hypogonadism (LOH) is a complex, heterogeneous entity. Whenever treatment is indicated, the endocrine literature has recommend testosterone replacement. We present our experience with clomiphene citrate treatment in patients with LOH and a review of the literature. This retrospective case series included 18 male patients with hypogonadotropic hypogonadism, roughly according to the European Male Aging Study criteria for LOH, attended at an academic hospital outpatient clinic. Data were retrieved from the patients' electronic medical records. The patients' mean age (±SD) was 44.3 ± 6.3 years (range 21-67 years) referred for evaluation of low testosterone together with decreased libido, erectile dysfunction, fatigue or tiredness, anxiety, and osteoporosis. Clomiphene was initially prescribed at doses between 25 mg 3 times a week and 50 mg/day. At 6 to 8 weeks following initiation of treatment, mean basal total-testosterone increased from 7.6 ± 2.6 to 19.3 ± 5.2 nmol/L (Phypogonadism.

  5. Male hypogonadism (Part 1)

    OpenAIRE

    Ye.V. Luchytskyy; V.Yе. Luchytskyy; M.D. Tronko

    2017-01-01

    The first part of the review presents the current data on the prevalence of male hypogonadism, methods of diagnosing different forms of hypogonadism, describes the clinical manifestations of the most common forms of this disease.

  6. Male hypogonadism (Part 1

    Directory of Open Access Journals (Sweden)

    Ye.V. Luchytskyy

    2017-05-01

    Full Text Available The first part of the review presents the current data on the prevalence of male hypogonadism, methods of diagnosing different forms of hypogonadism, describes the clinical manifestations of the most common forms of this disease.

  7. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

    Science.gov (United States)

    Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

    2014-01-25

    Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management. Copyright © 2013 Elsevier B.V. All rights reserved.

  8. Recommendations on the diagnosis, treatment and monitoring of hypogonadism in men.

    Science.gov (United States)

    Lunenfeld, Bruno; Mskhalaya, George; Zitzmann, Michael; Arver, Stefan; Kalinchenko, Svetlana; Tishova, Yuliya; Morgentaler, Abraham

    2015-03-01

    Hypogonadism or Testosterone Deficiency (TD) in adult men as defined by low levels of serum testosterone accompanied by characteristic symptoms and/or signs as detailed further on can be found in long-recognized clinical entities such as Klinefelter syndrome, Kallmann syndrome, pituitary or testicular disorders, as well as in men with idiopathic, metabolic or iatrogenic conditions that result in testosterone deficiency. These recommendations do not encompass the full range of pathologies leading to hypogonadism (testosterone deficiency), but instead focus on the clinical spectrum of hypogonadism related to metabolic and idiopathic disorders that contribute to the majority of cases that occur in adult men.

  9. Recommendations on the diagnosis, treatment and monitoring of hypogonadism in men

    Science.gov (United States)

    Lunenfeld, Bruno; Zitzmann, Michael; Arver, Stefan; Kalinchenko, Svetlana; Tishova, Yuliya; Morgentaler, Abraham

    2015-01-01

    Hypogonadism or Testosterone Deficiency (TD) in adult men as defined by low levels of serum testosterone accompanied by characteristic symptoms and/or signs as detailed further on can be found in long-recognized clinical entities such as Klinefelter syndrome, Kallmann syndrome, pituitary or testicular disorders, as well as in men with idiopathic, metabolic or iatrogenic conditions that result in testosterone deficiency. These recommendations do not encompass the full range of pathologies leading to hypogonadism (testosterone deficiency), but instead focus on the clinical spectrum of hypogonadism related to metabolic and idiopathic disorders that contribute to the majority of cases that occur in adult men. PMID:25657080

  10. Obesity and Hypogonadism.

    Science.gov (United States)

    Lamm, Steven; Chidakel, Aaron; Bansal, Rohan

    2016-05-01

    The relationship between obesity and hypogonadism is complicated. The relationship is bidirectional and there are numerous causative and correlative factors on both sides of the equation. Obesity is increasing in prevalence in epidemic proportions. Likewise, we are beginning to see the rapid increase in the incidence of male hypogonadism. It is only recently that we are learning the ways in which these 2 conditions exacerbate each other, and we are only beginning to understand how by treating one of these conditions, we can help to treat the other as well. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Argirein alleviates stress-induced and diabetic hypogonadism in rats via normalizing testis endothelin receptor A and connexin 43.

    Science.gov (United States)

    Xu, Ming; Hu, Chen; Khan, Hussein-hamed; Shi, Fang-hong; Cong, Xiao-dong; Li, Qing; Dai, Yin; Dai, De-zai

    2016-02-01

    Argirein (rhein-arginine) is a derivative of rhein isolated from Chinese rhubarb (Rheum Officinale Baill.) that exhibits antioxidant and anti-inflammatory activities. In the present study we investigated the effects of argirein on stress-induced (hypergonadotrophic) and diabetic (hypogonadotrophic) hypogonadism in male rats. Stress-induced and diabetic hypogonadism was induced in male rats via injection of isoproterenol (ISO) or streptozotocin (STZ). ISO-injected rats were treated with argirein (30 mg·kg(-1)·d(-1), po) or testosterone replacement (0.5 mg·kg(-1)·d(-1), sc) for 5 days, and STZ-injected rats were treated with argirein (40-120 mg·kg(-1)·d(-1), po) or aminoguanidine (100 mg·kg(-1)·d(-1), po) for 4 weeks. After the rats were euthanized, blood samples and testes were collected. Serum hormone levels were measured, and the expression of endothelin receptor A (ETA), connexin 43 (Cx43) and other proteins in testes was detected. For in vitro experiments, testis homogenate was prepared from normal male rats, and incubated with ISO (1 μmol/L) or high glucose (27 mmol/L). ISO injection induced hyper-gonadotrophic hypogonadism characterized by low testosterone and high FSH and LH levels in the serum, whereas STZ injection induced hypogonadotrophic hypogonadism as evidenced by low testosterone and low FSH and LH levels in the serum. In the testes of ISO- and STZ-injected rats, the expression of ETA, MMP-9, NADPH oxidase and pPKCε was significantly increased, and the expression of Cx43 was decreased. Administration of argirein attenuated both the abnormal serum hormone levels and the testis changes in ISO- and STZ-injected rats, and aminoguanidine produced similar actions in STZ-injected rats; testosterone replacement reversed the abnormal serum hormone levels, but did not affect the testis changes in ISO-injected rats. Argirein (0.3-3 μmol/L) exerted similar effects in testis homogenate incubated with ISO or high glucose in vitro. Two types of

  12. Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty.

    Science.gov (United States)

    Dwyer, Andrew A; Jayasena, Channa N; Quinton, Richard

    2016-06-01

    The phenomenon known as "mini-puberty" refers to activation of the neonatal hypothalamo-pituitary axis causing serum concentrations of gonadotrophins and testosterone (T) to approach adult male levels. This early neonatal period is a key proliferative window for testicular germ cells and immature Sertoli cells. Although failure to spontaneously initiate (adolescent) puberty is the most evident consequence of a defective gonadotropin-releasing hormone (GnRH) neurosecretory network, absent mini-puberty is also likely to have a major impact on the reproductive phenotype of men with congenital hypogonadotrophic hypogonadism (CHH). Furthermore, the phase of male mini-puberty represents a key window-of-opportunity to identify congenital GnRH deficiency (either isolated CHH, or as part of combined pituitary hormone deficiency) in childhood. Among male neonates exhibiting "red flag" indicators for CHH (i.e. maldescended testes with or without cryptorchidism) a single serum sample (between 4-8 weeks of life) can pinpoint congenital GnRH deficiency far more rapidly and with much greater accuracy than dynamic tests performed in later childhood or adolescence. Potential consequences for missing absent mini-puberty in a male neonate include the lack of monitoring of pubertal progression/lack of progression, and the missed opportunity for early therapeutic intervention. This article will review our current understanding of the mechanisms and clinical consequences of mini-puberty. Furthermore, evidence for the optimal clinical management of patients with absent mini-puberty will be discussed.

  13. Male hypogonadism: Symptoms and treatment

    OpenAIRE

    Peeyush Kumar; Nitish Kumar; Devendra Singh Thakur; Ajay Patidar

    2010-01-01

    Male hypogonadism is a condition in which the body does not produce enough of the testosterone hormone; the hormone that plays a key role in masculine growth and development during puberty. There is a clear need to increase the awareness of hypogonadism throughout the medical profession, especially in primary care physicians who are usually the first port of call for the patient. Hypogonadism can significantly reduce the quality of life and has resulted in the loss of livelihood and separatio...

  14. Can treatment of nocturia increase testosterone level in men with late onset hypogonadism?

    Science.gov (United States)

    Kim, Jong Wook; Chae, Ji Yun; Kim, Jin Wook; Yoon, Cheol Yong; Oh, Mi Mi; Park, Hong Seok; Kim, Je Jong; Moon, Du Geon

    2014-04-01

    To assess the effect of desmopressin on serum testosterone level in men with nocturia and late onset hypogonadism. We prospectively enrolled men with nocturia and symptoms of late onset hypogonadism. Desmopressin (0.1 mg) was administered once daily to patients for 12 weeks, and we then compared serum testosterone levels, electrolytes, frequency volume chart indices, and changes in the International Prostate Symptom Score (IPSS), International Index of Erectile Function, and Aging Male's Symptom scales before and after treatment. Patients with a history of cardiovascular disease or hyponatremia, those using hypnotics, and those who had primary hypogonadism or hypogonadotrophic hypogonadism were excluded from the study. Sixty-two men (mean age, 68.4 years) completed pre- and post-treatment questionnaires and underwent laboratory testing. At the end of the study, the testosterone levels in men with low testosterone levels (treatment (2.85 ± 0.58 to 3.97 ± 1.44 ng/mL; P = .001). Mean scores had decreased from 17.7 to 13.9 (IPSS), 3.8 to 3.2 (IPSS-Quality of Life), and 33.7 to 31.1 (Aging Male's Symptom). On the frequency volume chart, nocturnal urine volume, nocturnal polyuria index, actual number of nocturia events, nocturia index, and nocturnal bladder capacity index were significantly decreased. Desmopressin improved nocturia and other urinary symptoms. Moreover, serum testosterone levels increased significantly in men with low testosterone levels after 12-week desmopressin treatment. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Late-onset hypogonadism

    Directory of Open Access Journals (Sweden)

    Piotr Dudek

    2017-06-01

    Full Text Available In Poland, the number of men over the age of 50 years exceeds 6 million. It is estimated that about 2-6% of this population develops symptoms of late-onset hypogonadism (LOH. In men, testosterone deficiency increases slightly with age. LOH is a clinically and biochemically defined disease of older men with serum testosterone level below the reference parameters of younger healthy men and with symptoms of testosterone deficiency, manifested by pronounced disturbances of quality of life and harmful effects on multiple organ systems. Testosterone replacement therapy may give several benefits regarding body composition, metabolic control, and psychological and sexual parameters.

  16. High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

    Science.gov (United States)

    Jimenez-Balderas, F Javier; Tapia-Serrano, Rosario; Fonseca, M Eugenia; Arellano, Jorge; Beltran, Arturo; Yañez, Patricia; Camargo-Coronel, Adolfo; Fraga, Antonio

    2001-01-01

    Our goal in the present work was to determine whether male patients with untreated hypogonadism have an increased risk of developing rheumatic/autoimmune disease (RAD), and, if so, whether there is a relation to the type of hypogonadism. We carried out neuroendocrine, genetic, and rheumatologic investigations in 13 such patients and 10 healthy male 46,XY normogonadic control subjects. Age and body mass index were similar in the two groups. Nine of the 13 patients had hypergonadotropic hypogonadism (five of whom had Klinefelter's syndrome [karyotype 47,XXY]) and 4 of the 13 had hypogonadotropic hypogonadism (46,XY). Of these last four, two had Kallmann's syndrome and two had idiopathic cryptorchidism. Eight (61%) of the 13 patients studied had RADs unrelated to the etiology of their hypogonadism. Of these, four had ankylosing spondylitis and histocompatibility B27 antigen, two had systemic lupus erythematosus (in one case associated with antiphospholipids), one had juvenile rheumatoid arthritis, and one had juvenile dermatomyositis. In comparison with the low frequencies of RADs in the general population (about 0.83%, including systemic lupus erythematosus, 0.03%; dermatomyositis, 0.04%; juvenile rheumatoid arthritis, 0.03%; ankylosing spondylitis, 0.01%; rheumatoid arthritis, 0.62%; and other RAD, 0.1%), there were surprisingly high frequencies of such disorders in this small group of patients with untreated hypogonadism (P hypogonadism and was associated with marked gonadal failure with very low testosterone levels. PMID:11714390

  17. Lower sperm DNA fragmentation after r-FSH administration in functional hypogonadotropic hypogonadism.

    Science.gov (United States)

    Ruvolo, Giovanni; Roccheri, Maria Carmela; Brucculeri, Anna Maria; Longobardi, Salvatore; Cittadini, Ettore; Bosco, Liana

    2013-04-01

    An observational clinical and molecular study was designed to evaluate the effects of the administration of recombinant human FSH on sperm DNA fragmentation in men with a non-classical form of hypogonadotropic hypogonadism and idiopathic oligoasthenoteratozoospermia. In the study were included 53 men with a non-classical form of hypogonadotropic hypogonadism and idiopathic oligoasthenoteratozoospermia. In all patients, sperm DNA fragmentation index (DFI), assessed by terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate (dUTP) in situ DNA nick end-labelling (TUNEL) assay, was evaluated before starting the treatment with 150 IU of recombinant human FSH, given three times a week for at least 3 months. Patients' semen analysis and DNA fragmentation index were re-evaluated after the 3-month treatment period. After recombinant human FSH therapy, we did not find any differences in terms of sperm count, motility and morphology. The average DNA fragmentation index was significantly reduced (21.15 vs 15.2, p15 %), while no significant variation occurred in the patients with DFI values ≤ 15 %. Recombinant human FSH administration improves sperm DNA integrity in hypogonadotropic hypogonadism and idiopathic oligoasthenoteratozoospermia men with DNA fragmentation index value >15 % .

  18. Male hypogonadism: Symptoms and treatment

    Directory of Open Access Journals (Sweden)

    Peeyush Kumar

    2010-01-01

    Full Text Available Male hypogonadism is a condition in which the body does not produce enough of the testosterone hormone; the hormone that plays a key role in masculine growth and development during puberty. There is a clear need to increase the awareness of hypogonadism throughout the medical profession, especially in primary care physicians who are usually the first port of call for the patient. Hypogonadism can significantly reduce the quality of life and has resulted in the loss of livelihood and separation of couples, leading to divorce. It is also important for doctors to recognize that testosterone is not just a sex hormone. There is an important research being published to demonstrate that testosterone may have key actions on metabolism, on the vasculature, and on brain function, in addition to its well-known effects on bone and body composition. This article has been used as an introduction for the need to develop sensitive and reliable assays for sex hormones and for symptoms and treatment of hypogonadism.

  19. Testosterone replacement in male hypogonadism

    OpenAIRE

    Kalra, Sanjay; Agrawal, Navneet; Kumar, Satish; Sharma, Amit

    2010-01-01

    Sanjay Kalra1, Navneet Agrawal2, Satish Kumar3, Amit Sharma11Department of Endocrinology, Bharti Hospital, Karnal, India; 2Dept of Medicine, GR Medical College, Gwalior, India; 3Clinical Research, EXCEL Life Sciences, NOIDA, IndiaAbstract: This article contains a review of the clinical aspects of testosterone replacement in androgen deficiency of the aging male.Keywords: testosterone, supplementation, hypogonadism, ADAM

  20. Hypogonadism and renal failure: An update.

    Science.gov (United States)

    Thirumavalavan, Nannan; Wilken, Nathan A; Ramasamy, Ranjith

    2015-01-01

    The prevalence of both hypogonadism and renal failure is increasing. Hypogonadism in men with renal failure carries with it significant morbidity, including anemia and premature cardiovascular disease. It remains unclear whether testosterone therapy can affect the morbidity and mortality associated with renal failure. As such, in this review, we sought to evaluate the current literature addressing hypogonadism and testosterone replacement, specifically in men with renal failure. The articles chosen for this review were selected by performing a broad search using Pubmed, Embase and Scopus including the terms hypogonadism and renal failure from 1990 to the present. This review is based on both primary sources as well as review articles. Hypogonadism in renal failure has a multifactorial etiology, including co-morbid conditions such as diabetes, hypertension, old age and obesity. Renal failure can lead to decreased luteinizing hormone production and decreased prolactin clearance that could impair testosterone production. Given the increasing prevalence of hypogonadism and the potential morbidity associated with hypogonadism in men with renal failure, careful evaluation of serum testosterone would be valuable. Testosterone replacement therapy should be considered in men with symptomatic hypogonadism and renal failure, and may ameliorate some of the morbidity associated with renal failure. Patients with all stages of renal disease are at an increased risk of hypogonadism that could be associated with significant morbidity. Testosterone replacement therapy may reduce some of the morbidity of renal failure, although it carries risk.

  1. Approaches to male hypogonadism in primary care

    OpenAIRE

    Lawrence, Kristi L.; Stewart, Felicia; Larson, Brandi M.

    2017-01-01

    Abstract: Evidence suggests that providers are not adhering to current testosterone replacement therapy guidelines when treating male hypogonadism. Understanding the diagnosis and management of this condition is further complicated by conflicting recommendations among available guidelines. NPs must select and follow the best guideline recommendations available to optimally treat male hypogonadism.

  2. Evaluation and treatment of male hypogonadism in primary care.

    Science.gov (United States)

    Pickett, Kim Anne

    2016-08-18

    Male hypogonadism is increasing in prevalence, particularly in the older male population. Signs and symptoms associated with hypogonadism are often nonspecific and may be difficult to categorize. This article discusses parameters for screening patients at risk, reviews how to establish the diagnosis of primary or secondary male hypogonadism, and offers important considerations for treatment of patients with hypogonadism.

  3. Anabolic steroid induced hypogonadism in young men.

    Science.gov (United States)

    Coward, Robert M; Rajanahally, Saneal; Kovac, Jason R; Smith, Ryan P; Pastuszak, Alexander W; Lipshultz, Larry I

    2013-12-01

    The use of anabolic androgenic steroids has not been traditionally discussed in mainstream medicine. With the increased diagnosis of hypogonadism a heterogeneous population of men is now being evaluated. In this larger patient population the existence of anabolic steroid induced hypogonadism, whether transient or permanent, should now be considered. We performed an initial retrospective database analysis of all 6,033 patients who sought treatment for hypogonadism from 2005 to 2010. An anonymous survey was subsequently distributed in 2012 to established patients undergoing testosterone replacement therapy. Profound hypogonadism, defined as testosterone 50 ng/dl or less, was identified in 97 men (1.6%) in the large retrospective cohort initially reviewed. The most common etiology was prior anabolic androgenic steroid exposure, which was identified in 42 men (43%). Because of this surprising data, we performed an anonymous followup survey of our current hypogonadal population of 382 men with a mean±SD age of 49.2±13.0 years. This identified 80 patients (20.9%) with a mean age of 40.4±8.4 years who had prior anabolic androgenic steroid exposure. Hypogonadal men younger than 50 years were greater than 10 times more likely to have prior anabolic androgenic steroid exposure than men older than 50 years (OR 10.16, 95% CI 4.90-21.08). Prior anabolic androgenic steroid use significantly correlated negatively with education level (ρ=-0.160, p=0.002) and number of children (ρ=-0.281, panabolic androgenic steroid use is common in young men who seek treatment for symptomatic hypogonadism and anabolic steroid induced hypogonadism is the most common etiology of profound hypogonadism. These findings suggest that it is necessary to refocus the approach to evaluation and treatment paradigms in young hypogonadal men. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  4. Idiopathic anaphylaxis.

    Science.gov (United States)

    Fenny, Nana; Grammer, Leslie C

    2015-05-01

    Idiopathic anaphylaxis is a diagnosis of exclusion after other causes have been thoroughly evaluated and excluded. The pathogenesis of idiopathic anaphylaxis remains uncertain, although increased numbers of activated lymphocytes and circulating histamine-releasing factors have been implicated. Signs and symptoms of patients diagnosed with idiopathic anaphylaxis are indistinguishable from the manifestations of other forms of anaphylaxis. Treatment regimens are implemented based on the frequency and severity of patient symptoms and generally include the use of epinephrine autoinjectors, antihistamines, and steroids. The prognosis of idiopathic anaphylaxis is generally favorable with well-established treatment regimens and effective patient education. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Male Hypogonadism. A Case Report

    Directory of Open Access Journals (Sweden)

    Lisandro Hernández Madrazo

    2012-07-01

    Full Text Available The case of a 26 years old male patient who attended the Internal Medicine consultation at the La Fortaleza Integral Diagnostic Center in Maracaibo, Zulia State, Venezuela because of decreased external genitalia size, with poor development from childhood and swelling of the breasts is presented. Physical examination showed a trunk of feminoid configuration caused by adipose tissue accumulated in the lower abdomen, breast and pubic; wide pelvis; lower limb dominance over higher limbs; enucoid proportions; volume diffusely  increased in both breasts (gynecomastia; deposit of fatty tissue at the pelvic girdle, and absent or sparse facial, axillary and pubic hair. We observed decreased size, poor pigmentation, and soft consistency in penis and testicles. Exam was performed on plasma testosterone, luteinizing hormone and follicle stimulating hormone, thus concluding, by the Endocrinology Service at the Maracaibo University Hospital, to be the case of hypogonadotropic hypogonadism of improvable cause. The clinical diagnosis of hypogonadism in adults is unusual in medical practice, a fact that provides with relevance the case we present.

  6. EXPERIMENTAL MODEL OF THE PRIMARY MALE HYPOGONADISM

    Directory of Open Access Journals (Sweden)

    P. A. Kulikova

    2014-01-01

    Full Text Available Background: Development of the new methods of treatment of primary male hypogonadism is an urgent medical problem. Its solution requires a suitable experimental model of the disease. Aim: The creation of new experimental model of primary male hypogonadism. Materials and methods: The study was conducted on the male Wistar rats, hypogonadism was modeled by temporary ligation of the distal part of the spermatic cord. Results: It was shown that three-day ligation of the spermatic cord led to persistent disturbance of the testosterone-producing and reproductive functions. These manifestations were reversible at shorter duration of the exposure. Conclusion: The created model of primary male hypogonadism is characterized by the persistent testosterone-producing and reproductive functions disturbance, technical availability, non-toxicity to the other organs and systems. Availability of the model provides new opportunities for the development of approaches to treating diseases of the reproductive organs in men.

  7. INFERTILITY IN MEN WITH PRIMARY HYPOGONADOTROPIC HYPOGONADISM

    Directory of Open Access Journals (Sweden)

    O. B. Zhukov

    2017-01-01

    Full Text Available In this study, an analysis data on the etiology, pathogenesis, diagnosis and treatment of male sterility with hypogonadotropic hypogonadism. Examination of the patients requires attention of urologist, andrologist, endocrinologist, neurosurgeon, medical geneticist. Clinical case, described by us, shows the necessity of development of a unified algorithm for working with these patients and search for effective and safe treatment of patients with hypergonadotropic hypogonadism

  8. Hypogonadism

    Science.gov (United States)

    ... prolactinoma) Symptoms of other hormonal deficiencies (such as hypothyroidism ) The most common tumors affecting the pituitary are craniopharyngioma in children and prolactinoma adenomas in adults.

  9. Late-onset hypogonadism: beyond testosterone

    Directory of Open Access Journals (Sweden)

    Carlo Foresta

    2015-04-01

    Full Text Available Late-onset hypogonadism is defined as a combination of low testosterone (T levels and typical symptoms and signs. A major area of uncertainty is whether T concentrations are always really sufficient to fully reflect Leydig cell (dysfunction. Mild testicular alteration could be diagnosed only by additional biochemical markers, such as luteinizing hormone (LH and 25-hydroxyvitamin D levels. These markers help in identifying the so-called "subclinical" hypogonadism (normal T, high LH levels. Patients with hypogonadism have frequently low levels of 25-hydroxyvitamin D due to impairment of the hydroxylating enzyme CYP2R1 in the testis. However, no data have been published dealing with the best treatment option (cholecalciferol - the Vitamin D precursor, or calcidiol - 25-hydroxylated form of Vitamin D in these patients. We studied 66 patients with classic hypogonadism (total T [TT] <12 nmol l−1 , LH ≥ 8 IU l−1 (n = 26 and subclinical hypogonadism (TT ≥ 12 nmol l−1 , LH ≥ 8 IU l−1 (n = 40 and low 25-hydroxyvitamin D (<50 nmol l−1 . Subjects received cholecalciferol (5000 IU per week (n = 20 or calcidiol (4000 IU per week (n = 46, and 25-hydroxyvitamin D and parathyroid hormone (PTH were evaluated after 3 months of therapy. Supplementation with calcidiol significantly increased 25-hydroxyvitamin D and significantly decreased PTH levels in both groups of men with hypogonadism (primary, n = 16 and subclinical, n = 30, whereas supplementation with cholecalciferol did not modify their levels. This study shows for the first time that the administration of the 25-hydroxylated form of Vitamin D (calcidiol, and not the administration of the precursor cholecalciferol, restores 25-hydroxyvitamin D levels in subjects with hypogonadism.

  10. An update on male hypogonadism therapy.

    Science.gov (United States)

    Surampudi, Prasanth; Swerdloff, Ronald S; Wang, Christina

    2014-06-01

    Men who have symptoms associated with persistently low serum total testosterone level should be assessed for testosterone replacement therapy. Acute and chronic illnesses are associated with low serum testosterone and these should be recognized and treated. Once the diagnosis of male hypogonadism is made, the benefits of testosterone treatment usually outweigh the risks. Without contraindications, the patient should be offered testosterone replacement therapy. The options of testosterone delivery systems (injections, transdermal patches/gels, buccal tablets, capsules and implants) have increased in the last decade. Testosterone improves symptoms and signs of hypogonadism such as sexual function and energy, increases bone density and lean mass and decreases visceral adiposity. In men who desire fertility and who have secondary hypogonadism, testosterone can be withdrawn and the patients can be placed on gonadotropins. New modified designer androgens and selective androgen receptor modulators have been in preclinical and clinical trials for some time. None of these have been assessed for the treatment of male hypogonadism. Despite the lack of prospective long-term data from randomized, controlled clinical trials of testosterone treatment on prostate health and cardiovascular disease risk, the available evidence suggests that testosterone therapy should be offered to symptomatic hypogonadal men.

  11. ENU Mutagenesis in Mice Identifies Candidate Genes For Hypogonadism

    Science.gov (United States)

    Weiss, Jeffrey; Hurley, Lisa A.; Harris, Rebecca M.; Finlayson, Courtney; Tong, Minghan; Fisher, Lisa A.; Moran, Jennifer L.; Beier, David R.; Mason, Christopher; Jameson, J. Larry

    2012-01-01

    Genome-wide mutagenesis was performed in mice to identify candidate genes for male infertility, for which the predominant causes remain idiopathic. Mice were mutagenized using N-ethyl-N-nitrosourea (ENU), bred, and screened for phenotypes associated with the male urogenital system. Fifteen heritable lines were isolated and chromosomal loci were assigned using low density genome-wide SNP arrays. Ten of the fifteen lines were pursued further using higher resolution SNP analysis to narrow the candidate gene regions. Exon sequencing of candidate genes identified mutations in mice with cystic kidneys (Bicc1), cryptorchidism (Rxfp2), restricted germ cell deficiency (Plk4), and severe germ cell deficiency (Prdm9). In two other lines with severe hypogonadism candidate sequencing failed to identify mutations, suggesting defects in genes with previously undocumented roles in gonadal function. These genomic intervals were sequenced in their entirety and a candidate mutation was identified in SnrpE in one of the two lines. The line harboring the SnrpE variant retains substantial spermatogenesis despite small testis size, an unusual phenotype. In addition to the reproductive defects, heritable phenotypes were observed in mice with ataxia (Myo5a), tremors (Pmp22), growth retardation (unknown gene), and hydrocephalus (unknown gene). These results demonstrate that the ENU screen is an effective tool for identifying potential causes of male infertility. PMID:22258617

  12. The role of hypogonadism in Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Christian Høst

    2014-04-01

    Full Text Available Klinefelter syndrome (KS (47, XXY is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be diffi cult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition, with more fat and less muscle mass and diminished bone mineral mass, as well as increased risk of metabolic consequences, such as type 2 diabetes and the metabolic syndrome are all common in KS. These fi ndings should be a concern as they are not simply laboratory fi ndings; epidemiological studies in KS populations show an increased risk of both hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome.

  13. The role of hypogonadism in Klinefelter syndrome.

    Science.gov (United States)

    Høst, Christian; Skakkebæk, Anne; Groth, Kristian A; Bojesen, Anders

    2014-01-01

    Klinefelter syndrome (KS) (47, XXY) is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be diffi cult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition, with more fat and less muscle mass and diminished bone mineral mass, as well as increased risk of metabolic consequences, such as type 2 diabetes and the metabolic syndrome are all common in KS. These findings should be a concern as they are not simply laboratory findings; epidemiological studies in KS populations show an increased risk of both hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome.

  14. Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome

    NARCIS (Netherlands)

    Bergman, Jorieke E. H.; Bocca, Gianni; Hoefsloot, Lies H.; Meiners, Linda C.; van Ravenswaaij-Arts, Conny M. A.

    Objective To test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (HH) in patients with CHARGE syndrome, which is a variable combination of ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital hypoplasia, and ear

  15. Avolition in a patient with hypogonadism

    NARCIS (Netherlands)

    W.M.A. Verhoeven (Wim); S. Tuinier (Siegfried); J.I.M. Egger (Jos); F. van Erp (Femke); J. Tuerlings (Joep)

    2008-01-01

    textabstractBackground and Objectives: Testosterone deficiency has been implicated in the etiology of depression although there is an ongoing debate on the nature of this association. There is a paucity of data about the psychological impact of hypogonadism in genetic disorders associated with

  16. Avolition in a patient with hypogonadism

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Tuinier, S.; Egger, J.I.M.; Erp, C.A. van; Tuerlings, J.H.A.M.

    2009-01-01

    Background and Objectives: Testosterone deficiency has been implicated in the etiology of depression although there is an ongoing debate on the nature of this association. There is a paucity of data about the psychological impact of hypogonadism in genetic disorders associated with testosterone

  17. Genetics of congenital hypogonadotropic hypogonadism in Denmark

    DEFF Research Database (Denmark)

    Tommiska, Johanna; Känsäkoski, Johanna; Christiansen, Peter

    2014-01-01

    Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal...

  18. 46,XY hypergonadotropic hypogonadism and myasthenia gravis.

    Science.gov (United States)

    Lichiardopol, Corina; Herlea, V; Ioan, Virginia; Tomulescu, V; Mixich, F

    2006-01-01

    Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ptosis, a myasthenic deficit score of 22.5 points and an IQ of 84 points. Decreased testosterone (0.064 ng/mL) and elevated LH (64.5 mUI/mL) were consistent with hypergonadotropic hypogonadism and karyotype was normal: 46,XY. Thyroid function, haematologic evaluation, BUN, electrolytes, and glycemia were in the normal range. Therapy consisted of anticholinesterase inhibitors, immunosuppressants, corticotherapy, testosterone; thoracoscopic thymectomy was performed showing thymic lymphoid hyperplasia on histopathologic examination. Myasthenic score improved (12.5 points), progressive virilization occurred, and a year later the patient presented with cushingoid features and obesity.

  19. The role of hypogonadism in Klinefelter syndrome

    DEFF Research Database (Denmark)

    Høst, Christian; Skakkebæk, Anne; Groth, Kristian A

    2014-01-01

    and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be diffi cult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition...... populations show an increased risk of both hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever...... been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome....

  20. Scintigraphy in primary hypogonadism in testicle transplantation

    International Nuclear Information System (INIS)

    Glejzer, Yu.Ya.; Marinbakh, A.E.; Vasil'ev, V.I.

    1979-01-01

    A new method of diagnosis, scintigraphy of the testicles with sup(99m)Tc-pertechnetat is presented. The technique of the study is described, the data are processed. 26 patients with primary hypogonadism (cryptorchism, hypo- and aplasia of the testicles) and adrogenic insufficiency were examined before and after allotransplantation of cadaver testicle on arterial-venous pedicle. The advantages of the method lie in its being highly informative and objective and its low toxicity for a patient. Radionuclide examination makes it possible to determine the disposition, size and type of blood supply as well as the functional ability of testicles of patients with primary hypogonadism. Testicle scintigraphy can be significant while estimating the level of vascular network development and the function of a transplanted testicle, as well as in dynamic observations of a graft

  1. Treatment preferences and outcome in male hypogonadotropic hypogonadism: an Indian perspective.

    Science.gov (United States)

    Sanyal, D; Chatterjee, S

    2016-06-01

    This retrospective study assessed treatment preferences and outcome with testosterone or HCG / HCG-FSH combination in Indian male idiopathic hypogonadotropic hypogonadism (IHH) subjects (n = 31) above 18 years of age. 38.7% of IHH study subjects had no fertility plans and chose 3 monthly intramuscular testosterone undecanoate. 73.7% of subjects with fertility plans chose human chorionic gonadotropin (HCG) alone due to cost considerations. Spermatogenesis occurred in 21.4% on HCG alone and 60% of subjects on HCG with follicle-stimulating hormone (FSH) combination. Treatment failure is higher than published Western rates. FSH and HCG combination regimen is costly but superior to HCG alone. However, treatment failure still persists, suggesting unknown testicular defect in IHH. © 2015 Blackwell Verlag GmbH.

  2. Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Jens Ivar Brox

    2014-07-01

    Full Text Available Idiopathic scoliosis (IS is a lifetime condition and is defined as a structural, lateral rotated curvature of the spine of >10° on standing coronal plane radiographs. It should be distinguished from other causes of scoliosis. It can be classified as infantile, juvenile, and adolescent according to age. As a rule of thumb, about 80% of all curves are idiopathic, right convex thoracic, and present in otherwise healthy girls at the beginning of puberty. A family member most commonly detects scoliosis. The structural asymmetry of the spine is best observed by asking the patient to bend forward. IS is often seen in more than one member of a family, but the aetiology remains unknown. Multiple genes are likely to be involved with incomplete penetrance and variable expressivity. Early detection by screening allows for monitoring curve progression and timely initiation of bracing, but school screening is controversial and practises vary worldwide. Most patients have minor scoliosis and treatment is generally not recommended for patients with curves 45°. Scoliosis surgery was not successful until the introduction of Harrington’s instrumentation in the 1960s. Modern instrumentation has evolved from the Cotrel-Dubousset system in the 1980s, and a variety of methods are available today. Although scoliosis may be a burden, long-term studies suggest that a good quality of life is maintained in most patients.

  3. Vitamin D deficiency in type 2 diabetic patients with hypogonadism.

    Science.gov (United States)

    Bellastella, Giuseppe; Maiorino, Maria Ida; Olita, Laura; Capuano, Annalisa; Rafaniello, Concetta; Giugliano, Dario; Esposito, Katherine

    2014-02-01

    Both type 2 diabetes and secondary hypogonadism may be associated with low vitamin D levels. The aim of this study was to evaluate 25-hydroxyvitamin D (25(OH)D) concentrations in type 2 diabetic males with and without hypogonadism. We performed a case-control study among 122 male adults with type 2 diabetes, 51 with associated hypogonadism (Group 1) and 71 with normal gonadal function (Group 2). One hundred age-matched nondiabetic males with normal gonadal function served as a control group. Levels of 25(OH)D were assessed by a chemiluminescent immunoassay in all patients. Morning testosterone, pituitary, thyroid, parathyroid hormones, fasting glucose, and hemoglobin A1c were also evaluated. The overall diabetic population showed a mean 25(OH)D concentration (22.3 ± 6.09 ng/mL) significantly lower than the control group (34.3 ± 7.2, P hypogonadism as compared with the 9 patients with hypergonadotropic hypogonadism (19.4 ± 7.06 vs. 23.8 ± 6.11 ng/mL, P hypogonadism present lower 25(OH)D concentration and higher prevalence of vitamin D deficiency, compared with patients without hypogonadism. The finding that 25(OH)D concentrations were similar between type 2 diabetic patients with hypergonadotropic hypogonadism and those with normal gonadal function deserves further study. © 2013 International Society for Sexual Medicine.

  4. Characteristics of compensated hypogonadism in patients with sexual dysfunction.

    Science.gov (United States)

    Corona, Giovanni; Maseroli, Elisa; Rastrelli, Giulia; Sforza, Alessandra; Forti, Gianni; Mannucci, Edoardo; Maggi, Mario

    2014-07-01

    In the last few years, a view that subclinical endocrine disorders represent milder forms of the clinically overt disease has emerged. Accordingly, it has been proposed that compensated hypogonadism represents a genuine clinical subset of late-onset hypogonadism. The aim of the present study is to investigate the associations of compensated hypogonadism with particular clinical and psychological characteristics of male subjects complaining of sexual dysfunction. After excluding documented genetic causes of hypogonadism, an unselected consecutive series of 4,173 patients consulting our unit for sexual dysfunction was studied. Compensated hypogonadism was identified according to the European Male Ageing study criteria: total testosterone ≥10.5 nmol/L and luteinizing hormone >9.4 U/L. Several hormonal, biochemical, and instrumental (penile Doppler ultrasound) parameters were studied, along with results of the Structured Interview on Erectile Dysfunction (SIEDY) and ANDROTEST. One hundred seventy (4.1%) subjects had compensated hypogonadism, whereas 827 (19.8%) had overt hypogonadism. After adjustment for confounding factors, no specific sexual symptoms were associated with compensated hypogonadism. However, compensated hypogonadism individuals more often reported psychiatric symptoms, as detected by Middlesex Hospital Questionnaire score, when compared with both eugonadal and overt hypogonadal subjects (adjusted odds ratios = 1.018 [1.005;1.031] and 1.014 [1.001;1.028], respectively; both P hypogonadism had an increased predicted risk of cardiovascular events (as assessed by Progetto Cuore risk algorithm) when compared with eugonadal individuals. Accordingly, mortality related to major adverse cardiovascular events (MACEs), but not MACE incidence, was significantly higher in subjects with both compensated and overt hypogonadism when compared with eugonadal subjects. The present data do not support the concept that compensated (subclinical) hypogonadism

  5. DOES HYPOGONADISM ON RESULTS TRANSURETHRAL RESECTION OF BENIGN PROSTATIC HYPERPLASIA?

    Directory of Open Access Journals (Sweden)

    A. V. Sigaev

    2013-01-01

    Full Text Available Influence of hypogonadism on the results of transurethral resection of the prostate (TURP in patients with benign prostatic hyperplasia (BPH remains unexplored. At the survey included 98 patients with benign prostatic hyperplasia who underwent TURP. Revealed that the postoperative period in patients characterized by a significant decrease in the level of performance testosteronemii in all cases, and against the background of hypogonadism accompanied by the development of more complications. Preoperative correction of hypogonadism for 2 weeks prior to surgery allows a 2-3 times lower risk of postoperative complications. 

  6. Male acquired hypogonadotropic hypogonadism: diagnosis and treatment.

    Science.gov (United States)

    Salenave, Sylvie; Trabado, Sévérine; Maione, Luigi; Brailly-Tabard, Sylvie; Young, Jacques

    2012-04-01

    Acquired hypogonadotropic hypogonadism (AHH), contrary to congenital hypogonadotropic hypogonadism (CHH) is characterized by postnatal onset of disorders that damage or alter the function of gonadotropin-releasing hormone (GnRH) neurons and/or pituitary gonadotroph cells. AHH thus prevents the establishment of gonadotropin secretion at puberty, or its post-pubertal maintenance. Thus, postnatal AHH may prevent the onset of puberty or appear during pubertal development, but it usually emerges after the normal age of puberty. Although pituitary tumors, particularly prolactinoma, are the most common cause, sellar tumors or cyst of the hypothalamus or infundibulum, infiltrative, vascular, iron overload and other disorders may also cause AHH. Pituitary surgery and head trauma or cranial/pituitary radiation therapy are also usual causes of AHH. The clinical manifestations of AHH depend on age of onset, the degree of gonadotropin deficiency, the rapidity of its onset and the association to other pituitary function deficiencies or excess. Men with AHH have less stamina, decreased libido, erectile dysfunction and strength, and a worsened sense of well being leading to degraded quality of life. The physical examination is usually normal if hypogonadism is of recent onset. Diminished facial, body hair and muscle mass, fine facial wrinkles, gynecomastia, and hypotrophic testes are observed in long-standing and complete AHH. Spermatogenesis is impaired and the volume of ejaculate is decreased only when gonadotropins and testosterone levels are very low. Men with AHH may have normal or low serum LH and FSH concentrations, but normal gonadotropin values are inappropriate when associated with low serum testosterone. In the majority of AHH patients, serum inhibin B is "normal". The decrease of this sertolian hormone indicates a long-standing and severe gonadotropin deficiency. Symptoms, usually associated with significant testosterone deficiency in men with AHH, improve with

  7. Idiopathic portal hypertension

    International Nuclear Information System (INIS)

    Han, Tae Kyun; Ryu, Dae Sik; Kim, Heung Chul; Hur, Hun; Eom, Kyeung Tae; Namkung, Sook; Park, Man Soo; Hwang, Woo Chul; Lee, Kwan Seop

    1996-01-01

    To describe the radiologic findings of idiopathic portal hypertension and to find the points of differentiation between idiopathic portal hypertension and liver cirrhosis. Four portograms in five patients who for four years had suffered from pathologically confirmed idiopathic portal hypertension were retrospectively analyzed and compared with a portogram obtained from a control subject with liver cirrhosis. Portographic finding s of idiopathic portal hypertension were paucity of medium-sized portal branches, irregular and obtuse-angled division of peripheral branches, abrupt interruption and an avascular area beneath the liver margin. A portogram of idiopathic portal hypertension may be useful in differentiation this and liver cirrhosis

  8. Hypogonadism in aged hospitalized male patients: prevalence and clinical outcome.

    Science.gov (United States)

    Iglesias, P; Prado, F; Macías, M C; Guerrero, M T; Muñoz, A; Ridruejo, E; Tajada, P; García-Arévalo, C; Díez, J J

    2014-02-01

    Male hypogonadism is common in the elderly and has been associated with increased risk of mortality. Our objective has been to assess the prevalence of primary and central hypogonadism in elderly male patients admitted to the hospital because of acute illness. We also evaluated the relationships between gonadal dysfunction and in-hospital mortality. 150 patients, aged ≥65 years, admitted during 2010 and 2011 in our geriatric unit, were studied. Serum concentrations total, bioavailable and free testosterone, as well as of follicle-stimulating hormone and luteinizing hormone were quantified in every patient. Hypogonadism was defined by the presence of serum testosterone levels lower than 200 ng/dl. Hypogonadism was found in 80 patients (53.3 %). Serum gonadotropin concentrations were elevated in 43.7 % of these patients, whereas 41.3 % of hypogonadic patients showed normal and 15 % low gonadotropin concentrations. Respiratory tract infection and congestive heart failure were the main causes of hospitalization in hypogonadal men, whereas acute cerebrovascular disease was the main reason for admission in eugonadal patients. Of the 13 patients who died during hospitalization, 12 were hypogonadic. Patients who died showed significantly lower serum levels of total, free and bioavailable testosterone than those found in patients who survived. Our results show that about half of patients admitted for acute illness have hypogonadism, mainly of non-hypergonadotropic type. Gonadal hypofunction is significantly related with in-hospital mortality. A low value of serum testosterone may be a predictor for mortality in elderly male patients.

  9. Serum vitamin D levels and hypogonadism in men.

    Science.gov (United States)

    Lerchbaum, E; Pilz, S; Trummer, C; Rabe, T; Schenk, M; Heijboer, A C; Obermayer-Pietsch, B

    2014-09-01

    There is inconsistent evidence on a possible association of vitamin D and androgen levels in men. We therefore aim to investigate the association of 25-hydroxyvitamin D (25(OH)D) with androgen levels in a cohort of middle-aged men. This cross-sectional study included 225 men with a median (interquartile range) age of 35 (30-41) years. We measured 25(OH)D, total testosterone (TT) and SHBG concentrations. Hypogonadism was defined as TT hypogonadism was 21.5% and lowest in men within 25(OH)D quintile 4 (82-102 nmol/L). We found a significantly increased risk of hypogonadism in men within the highest 25(OH)D quintile (>102 nmol/L) compared to men in quintile 4 (reference) in crude (OR 5.10, 1.51-17.24, p = 0.009) as well as in multivariate adjusted analysis (OR 9.21, 2.27-37.35, p = 0.002). We found a trend towards increased risk of hypogonadism in men within the lowest 25(OH)D quintile (≤43.9 nmol/L). In conclusion, our data suggest that men with very high 25(OH)D levels (>102 nmol/L) might be at an increased risk of hypogonadism. Furthermore, we observed a trend towards increased risk of hypogonadism in men with very low vitamin D levels indicating a U-shaped association of vitamin D levels and hypogonadism. With respect to risk of male hypogonadism, our results suggest optimal serum 25(OH)D concentrations of 82-102 nmol/L. © 2014 American Society of Andrology and European Academy of Andrology.

  10. Plasma kisspeptin levels in male cases with hypogonadism.

    Science.gov (United States)

    Kotani, Masato; Katagiri, Fumihiko; Hirai, Tsuyoshi; Kagawa, Jiro

    2014-01-01

    The hypothalamic hormone kisspeptin (metastin) regulates human reproduction by modulating gonadotropin-releasing hormone (GnRH) secretion. Kisspeptin is detected in peripheral blood, although GnRH is not. In this study, we measured plasma kisspeptin levels in four male cases with hypogonadism and seven normal male controls using enzyme immunoassay (EIA) to elucidate the clinical implications of kisspeptin levels in male hypogonadism. The results showed a variety of plasma kisspeptin levels: 6.0 fmol/mL in a male with isolated hypogonadotropic hypogonadism (IHH), 43.2 fmol/mL in a male with Kallmann's syndrome, 40.7 fmol/mL in a male with azoospermia, 323.2 fmol/mL in a male with hypergonadotropic hypogonadism, and 12.3 ± 2.5 fmol/mL (mean ± SD) in seven normal controls. Except for the case with IHH, the plasma kisspetin levels were elevated in the three cases with Kallmann's syndrome, azoospermia, and hypergonadotropic hypogonadism. The reason why the three cases had high values was their lesions were downstream of the kisspeptin neuron in the hypothalamic-pituitary-gonadal axis, suggesting that elevated kisspeptin levels were implicated in hypothalamic kisspeptin secretion under decreased negative feedback of gonadal steroids. The result that the plasma kisspeptin levels were decreased by gonadotropin therapy in the case with Kallmann's syndrome supported this hypothesis. In conclusion, to measure plasma kisspeptin levels could be useful for better understanding of male hypogonadism.

  11. Reproduction, Smell and Neurodevelopmental disorders: Genetic defects in different hypogonadotropic hypogonadal syndromes.

    Directory of Open Access Journals (Sweden)

    Hernan G VALDES-SOCIN

    2014-07-01

    Full Text Available The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations (Kallmann syndrome and idiopathic hypogonadotropic hypogonadism (IHH with normal smell (normosmic IHH. Kallmann syndrome (KS is a heterogeneous disorder affecting 1 in 5000 males, with a 3-5 fold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental and genetic aspects of HH in human pathology.

  12. Application of hormonal treatment in hypogonadotropic hypogonadism: more than ten years experience.

    Science.gov (United States)

    Yang, Luo; Zhang, Si Xiao; Dong, Qiang; Xiong, Zi Bing; Li, Xiang

    2012-04-01

    To demonstrate the efficacy of hormone treatment on the patients with hypogonadotropic hypogonadism (HH), we summarized our more than 10 years experience. A total of 242 male patients (age range 15-52 years old) with HH including two Kallmann syndrome treated at the andrology outpatient clinics of university hospital in the past 10 years were reviewed retrospectively. The patients were divided into three groups based on the different treatment strategy. There were 84 patients treated with human chorionic gonadotropin (hCG) (group 1, hCG treatment group), 74 patients treated with hCG plus human menopause gonadotropin (hMG) (group 2, hCG + hMG treatment group), and 84 patients treated with testosterone (group 3, T treatment group). Sex characteristics, testicular volume, and sperm production were determined before and after the treatments. The therapeutic effects in the three groups were analyzed statistically. In total, 42 patients of group 1 (50.0%) and 56 of group 2 (75.7%) had their testicular volumes increased after 6-18 months treatment, from 2.0 ± 1.1 to 6.8 ± 3.2 mL and 2.1 ± 1.1 to 8.8 ± 3.9 mL, respectively. Only six patients of group 3 had their testicular volumes increased but no statistically significant. Among the patients with testes growth, 34 patients of group 1 and 48 patients of group 2 achieved spermatogenesis, and three of them made their wives pregnant naturally. During the follow-up after treatment, there were 36 patients finally defined as delayed puberty, and 204 patients defined as idiopathic hypogonadotropic hypogonadism. For the hormonal treatment of HH, testosterone therapy could not stimulate testes growth and spermatogenesis, but HCG therapy and hCG/hMG combination therapy both are effective, while hCG/hMG combination therapy could achieve better therapeutic effects.

  13. Idiopathic chondrolysis - diagnostic difficulties

    International Nuclear Information System (INIS)

    Kozlowski, K.; Scougall, J.; Royal Alexandra Hospital for Children, Sydney

    1984-01-01

    Four cases of idiopathic chondrolysis of the hip in three white girls and one Maori girl are reported. The authors stress the causes why a disease with characteristic clinical and radiographic appearances and normal biochemical findings presents diagnostic difficulties. It is suspected that idiopathic chondrolysis is a metabolic disorder of chondrocytes, triggered by environment circumstances in susceptible individuals. Idiopathic chondrolysis is probably one of the most common causes of coxarthrosis in women. (orig.)

  14. Testosterone versus clomiphene citrate in managing symptoms of hypogonadism in men

    Directory of Open Access Journals (Sweden)

    Pranav Dadhich

    2017-01-01

    Conclusions: Both TST and CC are effective medications in treating hypogonadism; however, our study indicates that TST is more effective in raising serum testosterone levels and improving hypogonadal symptoms. CC remains a viable treatment modality for hypogonadal men but its adverse effect on libido warrant further study.

  15. Oxidative stress status in congenital hypogonadism: an appraisal.

    Science.gov (United States)

    Haymana, C; Aydoğdu, A; Soykut, B; Erdem, O; Ibrahimov, T; Dinc, M; Meric, C; Basaran, Y; Sonmez, A; Azal, O

    2017-07-01

    Patients with hypogonadism are at increased risk of cardiac and metabolic diseases. However, the pathogenesis of increased cardiometabolic risk in patients with hypogonadism is not clear. Oxidative stress plays an important role in the pathogenesis of cardiometabolic diseases. This study aimed to investigate possible differences in oxidative stress conditions between patients with hypogonadism and healthy controls. In this study, 38 male patients with congenital hypogonadotropic hypogonadism (CHH) (mean age: 21.7 ± 1.6 years) and 44 healthy male controls (mean age: 22.3 ± 1.4 years) with almost equal body mass index were enrolled. The demographic parameters, follicle-stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, homeostatic model assessment of insulin resistance (HOMA-IR) and oxidative stress parameters, such as superoxide dismutase, catalase (CAT), glutathione peroxidase (GPx) and malondialdehyde (MDA), were compared between both groups. Compared to the healthy controls, triglycerides (p = .02), insulin levels, HOMA-IR values, CAT activities and MDA levels (p treatment-naïve patients with congenital hypogonadism had an increased status of oxidative stress.

  16. [Hypogonadism caused by Gorlin-Goltz syndrome].

    Science.gov (United States)

    Marín Romero, Olivia; Hernández Marín, Imelda; Ayala Ruiz, Aquiles R

    2006-09-01

    The Gorlin-Goltz syndrome is a dominant autosomic disorder characterized by cancerigenic predisposition and multiple development defects, apparently without reproductive compromise. The complex is characterized by four primary symptoms, which include nevoid basal cell epitheliomas malignantly prone, keratocystic jaw, skeletal abnormalities and intracranial calcifications. Apparently, reproductive problems reported had been rarely associated with this syndrome. We present the case of a patient with clinic stigmatae of Gorlin-Goltz syndrome, who had a characteristic progress as seen in the literature; he was the fifth product of a 43 year-old female (father was 48 years old); who at birth disclosed right eye microftalmy, bilateral cryptorchidism surgically treated at age of six. At puberty, an odontogenic cyst of the jaw was noted and enucleated. He also showed facial nevi in neck, thorax and abdomen. When he was admitted being 14 years old in our clinic, he had recurrent bilateral cryptorchidism, sexual immatturity and infertility. It is important to take into consideration Gorlin-Goltz stigmatae in cases of hypogonadism in order to recognize a further genetic influence.

  17. The pharmacotherapy of male hypogonadism besides androgens.

    Science.gov (United States)

    Corona, Giovanni; Rastrelli, Giulia; Ratrelli, Giulia; Maggi, Mario

    2015-02-01

    Adulthood male hypogonadism (HG) is the most common form of HG. Although testosterone (T) replacement therapy (TRT) is the most common way of treating HG, other options are available depending on patient's needs and expectations. We analyze alternative options to TRT as a medical intervention in treating HG. Gonadotropin (Gn) therapy is the treatment of choice in men with secondary HG (sHG), who require fertility. Gonadotropin-releasing hormone therapy represents an alternative to Gn for inducing spermatogenesis in patients with sHG, however, its use is limited by the poor patient compliance and high cost. In obese HG men, lifestyle modifications and, in particular, weight loss should be the first step. Recent data suggest that antiestrogens represent a successful treatment for sHG. Other potential therapeutic options include the stimulation of hypothalamic activity (i.e., kisspeptin and neurokinin-B agonists). Conversely, the possibility of increasing Leydig cell steroid production, independently from Gn stimulation, seems unreliable. Understanding the nature of male HG and patient's needs are mandatory before choosing among treatment options. For primary HG only TRT is advisable, whereas for the secondary form several alternative possibilities can be offered.

  18. Association between Use of Exogenous Testosterone Therapy and Risk of Venous Thrombotic Events among Exogenous Testosterone Treated and Untreated Men with Hypogonadism.

    Science.gov (United States)

    Li, Hu; Benoit, Karin; Wang, Wei; Motsko, Stephen

    2016-04-01

    Limited information exists about whether exogenous testosterone therapy is associated with a risk of venous thrombotic events. We investigated via cohort and nested case-control analyses whether exogenous testosterone therapy is associated with the risk of venous thrombotic events in men with hypogonadism. Databases were reviewed to identify men prescribed exogenous testosterone therapy and/or men with a hypogonadism diagnosis. Propensity score 1:1 matching was used to select patients for cohort analysis. Cases (men with venous thrombotic events) were matched 1:4 with controls (men without venous thrombotic events) for the nested case-control analysis. Primary outcome was defined as incident idiopathic venous thrombotic events. Cox regression and conditional logistic regression were used to assess HRs and ORs, respectively. Sensitivity analyses were also performed. A total of 102,650 exogenous testosterone treated and 102,650 untreated patients were included in cohort analysis after matching, and 2,785 cases and 11,119 controls were included in case-control analysis. Cohort analysis revealed a HR of 1.08 for all testosterone treated patients (95% CI 0.91, 1.27, p = 0.378). Case-control analysis resulted in an OR of 1.02 (95% CI 0.92, 1.13, p = 0.702) for current exogenous testosterone therapy exposure and an OR of 0.92 (95% CI 0.82, 1.03, p = 0.145) for past exogenous testosterone therapy exposure. These results remained nonstatistically significant after stratifying by exogenous testosterone therapy administration route and age category. Most sensitivity analyses yielded consistent results. No significant association was found between exogenous testosterone therapy and incidents of idiopathic or overall venous thrombotic events in men with hypogonadism. However, some discrepant findings exist for the association between injectable formulations and the risk of overall venous thrombotic events. Copyright © 2016 American Urological Association Education and Research

  19. Idiopathic Retroperitoneal Hematoma

    African Journals Online (AJOL)

    6. Stewart BT, McLaughlin SJ, Thompson GA. Spontaneous retroperitoneal haemorrhage:a general surgeon's perspective. Aust N. Z J Surg 1998;68:371-3. Monib, et al.: Idiopathic retroperitoneal hematoma. How to cite this article: Monib S, Ritchie A, Thabet E. Idiopathic retroperitoneal hematoma. J Surg Tech Case Report ...

  20. Visceral fat dysfunction is positively associated with hypogonadism in Chinese men.

    Science.gov (United States)

    Wang, Ningjian; Zhai, Hualing; Han, Bing; Li, Qin; Chen, Yi; Chen, Yingchao; Xia, Fangzhen; Lin, Dongping; Lu, Yingli

    2016-01-22

    Visceral adiposity index (VAI) well mirrors visceral fat dysfunction. No study explored the association between low androgen and VAI. We aimed to determine whether VAI was associated with hypogonadism and sex hormones, and also whether it better predicted hypogonadism than other obesity indices. Our data were collected from 16 sites in East China. 2,759 men were enrolled. Hypogonadism was defined as total testosterone male: (waist circumference/(39.68 + (1.88 × BMI)) × (triglycerides/1.03) × (1.31/HDL). 484 (17.5%) hypogonadal men had significantly higher VAI. After adjusting for age, smoking, neck and hip circumference, diabetes and hypertension, VAI was inversely associated with total testosterone, estradiol and SHBG (P hypogonadism (P for trend hypogonadism in Chinese men. VAI also best predicted hypogonadism among obesity indices (waist, hip and neck circumference, BMI, waist-hip ratio and body adiposity index).

  1. Delayed puberty and hypogonadotropic hypogonadism. Differential diagnosis and treatment

    NARCIS (Netherlands)

    Snoep, Marinus Cornelis

    1978-01-01

    This thesis describes a method enabling a prospecrive differential diagnosis to be made berween delayed puberty (DP) and hypogonadotropic hypogonadism (HH). The influence of androgen administration on the gonadal feedback sysrem of patients with delayed puberty was also studied. ... Zie: Summary

  2. Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

    Science.gov (United States)

    Hunter, Janel Darcy; Davis, Melissa Ann; Law, Jennifer Rachel

    2017-01-01

    The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.

  3. Emerging medication for the treatment of male hypogonadism.

    Science.gov (United States)

    Aydogdu, Aydogan; Swerdloff, Ronald S

    2016-09-01

    Male hypogonadism is characterized by inadequate production of Testosterone (T) (hypoandrogenism) and deficiencies in spermatogenesis. The main treatment of male hypogonadism is T replacement therapy (TRT), but for some of the patients, alternative drugs may be more suitable. The available literature of T and alternative treatments for male hypogonadism are discussed. Transdermal application of T gels are the most commonly used route of T administration. Some oral T formulations are either associated with hepatic toxicity (i.e. methyltestosterone) or short half-lives that require multiple doses per day (i.e. oral testosterone undecanoate). Short acting, injectable T formulations are also available. If the patient prefers not to use daily drugs or short acting injectable formulations, depot formulations such as injectable testosterone undecanoate (TU) may be a good alternative. If the patient has hypogonadotropic hypogonadism and desires fertility or if he is adolescent, instead of TRT, gonadotropins can be started to stimulate testicular growth and spermatogenesis. In obese patients or for the patients having high risks for TRT, off label aromatase inhibitors (AI) and clomiphene citrate (CC), may be considered to stimulate LH, FSH and T levels. In patients with high prostate disease risk, selective androgen receptor modulators may be an alternative treatment but these latter treatments have not had high level evidence.

  4. Human Immunodeficiency Virus Infection and Male Hypogonadism: A Review.

    Science.gov (United States)

    Kietsiriroje, Noppadol

    2015-10-01

    Hypogonadism is a common complication among HIV infected patients. The prevalence of hypogonadism is 30 to 50% in HIV infected men with wasting syndrome and 20 to 25% in those without wasting syndrome. HIV infection affects the entire hypothalamus-pituitary-gonadal axis via both direct and indirect effects, which are defined in four categories, 1) direct effect of HIV particles, 2) opportunistic infections, 3) HIV-related malignancy and its treatment, and 4) medications that are used for HIV infection or its opportunistic infection. The association between HIV infection, hypogonadism, and cardiovascular diseases has yet to be determined; however, there are data that HIV infection and its treatment, particularly protease inhibitors, worsened the metabolic profiles, which were surrogate markers of cardiovascular diseases. Considerably more attention should be paid to the diagnosis of hypogonadism in this group particularly because HIV infection increases both sex hormone-binding globulin and total testosterone level. Testosterone replacement shows benefits on mood, body composition, and seems to benefit the metabolic profile in HIV infected men with low body mass index.

  5. Bone benefits of testosterone replacement therapy in male hypogonadism.

    Science.gov (United States)

    Tirabassi, G; Biagioli, A; Balercia, G

    2014-06-01

    Osteoporosis is an asymptomatic, systemic bone disease characterized by low bone mass and microarchitectural deterioration of bone tissue, resulting in increased bone fragility. Such condition is often underdiagnosed and undertreated, especially in men, therefore considerably increasing the fracture risk. Of note, fracture-related morbidity and mortality is generally higher in men, partly due to greater frailty. On the other hand, male hypogonadism is defined as the failure of the testes to produce androgens, sperm, or both and it is often due to the ageing process. This disorder, in turn, causes many systemic disorders, and it is the condition mainly associated with male osteoporosis. Testosterone replacement therapy (TRT) is usually prescribed to restore optimal hormone levels, but conflicting data are available about the efficacy of TRT treatment on bone mineral density. In this review we extensively examined literature data about the usefulness of TRT in improving hypogonadism-associated low bone mineral density. Furthermore, we considered the complex relationship between male osteoporosis and hypogonadism, by specifically addressing the role of androgens in male bone physiology and the diagnostic approach to male osteoporosis and hypogonadism and also by dealing with some new related aspects such as the new endocrine pathways between bone and testis and the role of androgen receptor CAG polymorphism on bone density.

  6. Preserving fertility in the hypogonadal patient: an update

    Directory of Open Access Journals (Sweden)

    Ranjith Ramasamy

    2015-04-01

    Full Text Available An increasing number of young and middle-aged men are seeking treatment for symptoms related to deficient levels of androgens (hypogonadism including depression, loss of libido, erectile dysfunction, and fatigue. The increase in prevalence of testosterone supplementation in general and anabolic steroid-induced hypogonadism specifically among younger athletes is creating a population of young men who are uniquely impacted by the testicular end-organ negative consequences of exogenous steroid use. Exogenous testosterone therapy can alter the natural regulation of the hypothalamic-pituitary-gonadal axis leading to impaired spermatogenesis with azoospermia being a serious possible result, thus rendering the individual infertile. For men of reproductive age who suffer from hypogonadal symptoms, preservation of fertility is an important aspect of their treatment paradigm. Treatment with human chorionic gonadotropin (hCG has shown the ability not only to reverse azoospermia brought on by testosterone supplementation therapy but also to help maintain elevated intratesticular testosterone levels. In addition, selective estrogen receptor modulators, often used with hCG have been shown both to elevate total testosterone levels and to maintain spermatogenesis in hypogonadal men.

  7. Obesity, metabolic syndrome, male hypogonadism and cardiovascular risk

    Directory of Open Access Journals (Sweden)

    Giovanni Corona

    2013-04-01

    Full Text Available Background: A large body of evidences indicates that sexual dysfunction, and in particular erectile dysfunction (ED, may represent an early surrogate marker of different disease states such as diabetes mellitus, hypertension, metabolic syndrome (MetS and depression. Furthermore, it has been suggested that ED could also be considered the first sign of a forthcoming coronary heart disease (CHD and an efficient predictor of silent CHD in a diabetic population, independently of glycometabolic control and ED severity. Hypogonadism is frequently associated with MetS both in subjects with or without ED, insulin resistance being the putative pathogenetic link. In subjects with ED hypogonadism can exacerbate sexual dysfunction because of its typical symptoms, such as decreased sexual desire and mood disturbances. However, hypogonadism per se has been associated with an increased risk of cardiovascular and overall mortality. Aim of the study: In this review, a comprehensive literature search was carried out, in order to discuss the relationship between insulin resistance, ED, MetS and hypogonadism, focusing on their possible involvement in the development of cardiovascular diseases.

  8. Childhood growth in boys with congenital hypogonadotropic hypogonadism

    DEFF Research Database (Denmark)

    Varimo, Tero; Hero, Matti; Laitinen, Eeva-Maria

    2016-01-01

    BACKGROUND: We describe childhood growth patterns in a series of well-characterized patients with congenital hypogonadotropic hypogonadism (CHH) with special emphasis on genotype-phenotype correlation. METHODS: We retrospectively evaluated the growth charts of 36 males with CHH (27 from Finland...

  9. Adolescent Idiopathic Scoliosis

    Science.gov (United States)

    ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Common Questions & Glossary Resources ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Juvenile Idiopathic Scoliosis Diagnosed ...

  10. Adolescent Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Safak Ekinci

    2014-06-01

    Full Text Available Scoliosis is called idiopathic when no other underlying disease can be identified. The etiology of adolescent idiopathic scoliosis (AIS is still unknown despite many years of research effort. Theories on AIS's etiology have included mechanical, hormonal, metabolic, neuromuscular, growth, and genetic abnormalities. Skeletally immature patients with adolescent idiopathic scoliosis are at risk of curve progression. The adolescent onset of severe idiopathic scoliosis has traditionally been evaluated using standing posteroanterior radiographs of the full spine to assess lateral curvature with the Cobb method. Scoliosis in children of school age and above primarily occurs in girls. The therapeutic goal in children is to prevent progression. In children, scoliosis of 20 and deg; or more should be treated with a brace, and scoliosis of 45 and deg; or more with surgery. [Arch Clin Exp Surg 2014; 3(3.000: 174-182

  11. Understanding idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Markey, Keira A; Mollan, Susan P; Jensen, Rigmor H

    2016-01-01

    Idiopathic intracranial hypertension is a disorder characterised by raised intracranial pressure that predominantly affects young, obese women. Pathogenesis has not been fully elucidated, but several causal factors have been proposed. Symptoms can include headaches, visual loss, pulsatile tinnitus...

  12. Treatment of Hypogonadism: Current and Future Therapies [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Arthi Thirumalai

    2017-01-01

    Full Text Available The treatment of hypogonadism in men is of great interest to both patients and providers. There are a number of testosterone formulations currently available and several additional formulations under development. In addition, there are some lesser-used alternative therapies for the management of male hypogonadism, which may have advantages for certain patient groups. The future of hypogonadism therapy may lie in the development of selective androgen receptor modulators that allow the benefits of androgens whilst minimizing unwanted side effects.

  13. Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement Therapy

    OpenAIRE

    Prasanth N. Surampudi; Christina Wang; Ronald Swerdloff

    2012-01-01

    Hypogonadism in older men is a syndrome characterized by low serum testosterone levels and clinical symptoms often seen in hypogonadal men of younger age. These symptoms include decreased libido, erectile dysfunction, decreased vitality, decreased muscle mass, increased adiposity, depressed mood, osteopenia, and osteoporosis. Hypogonadism is a common disorder in aging men with a significant percentage of men over 60 years of age having serum testosterone levels below the lower limits of young...

  14. Treatment of Hypogonadism: Current and Future Therapies [version 1; referees: 2 approved

    OpenAIRE

    Arthi Thirumalai; Kathryn E. Berkseth; John K. Amory

    2017-01-01

    The treatment of hypogonadism in men is of great interest to both patients and providers. There are a number of testosterone formulations currently available and several additional formulations under development. In addition, there are some lesser-used alternative therapies for the management of male hypogonadism, which may have advantages for certain patient groups. The future of hypogonadism therapy may lie in the development of selective androgen receptor modulators that allow the benefits...

  15. A Case of Hypogonadotropic Hypogonadism Caused by Opioid Treatment for Nonmalignant Chronic Pain

    OpenAIRE

    Tabuchi, Yukiko; Yasuda, Tetsuyuki; Kaneto, Hideaki; Kitamura, Tetsuhiro; Kozawa, Junji; Otsuki, Michio; Imagawa, Akihisa; Nakae, Aya; Matsuda, Youichi; Uematsu, Hironobu; Mashimo, Takashi; Shibata, Masahiko; Shimomura, Iichiro

    2012-01-01

    We report a case of 42-year-old male patient with hypogonadotropic hypogonadism. He suffered from general fatigue and erectile dysfunction after the treatment with transdermal fentanyl for chronic pain by traffic injury. Endocrine examinations and hormone stimulating tests showed that he had hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI) showed no abnormal findings, and he had no past history of accounting for acquired hypogonadotropic hypogonadism. Therefore, his hypog...

  16. The safety of available treatments of male hypogonadism in organic and functional hypogonadism.

    Science.gov (United States)

    Corona, G; Rastrelli, G; Reisman, Y; Sforza, A; Maggi, M

    2018-03-01

    In the case of primary male hypogonadism (HG), only testosterone (T) replacement therapy (TRT) is possible whereas when the problem is secondary to a pituitary or hypothalamus alteration both T production and fertility can be, theoretically, restored. We here systematically reviewed and discussed the advantages and limits of medications formally approved for the treatment of HG. Areas covered: Data derived from available meta-analyses of placebo controlled randomized trials (RCTs) were considered and analyzed. Gonadotropins are well-toleratedand their use is mainly limited by higher costs and a more cumbersome treatment schedule than TRT. Available RCTs on TRT suggest that cardiovascular (CV) and venous thromboembolism risk is not a major issue and that prostate safety is guaranteed. The risk of increased hematocrit is mainly limited to the use of short terminjectable preparations. Expert opinion: In the last few years the concept of 'organic' irreversible HG and 'functional' or age- and comorbidity-related HG has been introduced. This definition is not evidence-based. The majority of RCTs enrolled patients with 'functional' HG. Considering the significant improvement in body composition, glucose metabolism and sexual activity, TRT should not be limited to 'organic' HG, but also offered for 'functional'.

  17. A Case of Hypogonadotropic Hypogonadism Caused by Opioid Treatment for Nonmalignant Chronic Pain

    Directory of Open Access Journals (Sweden)

    Yukiko Tabuchi

    2012-01-01

    Full Text Available We report a case of 42-year-old male patient with hypogonadotropic hypogonadism. He suffered from general fatigue and erectile dysfunction after the treatment with transdermal fentanyl for chronic pain by traffic injury. Endocrine examinations and hormone stimulating tests showed that he had hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI showed no abnormal findings, and he had no past history of accounting for acquired hypogonadotropic hypogonadism. Therefore, his hypogonadism was diagnosed to be caused by opioid treatment. Although opioid-induced endocrine dysfunctions are not widely recognized, this case suggests that we should consider the possibility of endocrine dysfunctions in patients with opioid treatment.

  18. Study clarifies associations between hypogonadism and health in aging men.

    Science.gov (United States)

    Amory, John K

    2012-11-01

    Tajar and colleagues present the associations between moderate and severe hypogonadism, symptoms of androgen deficiency and the prevelence of end-organ evidence of androgen deficency in 2966 older men in the European Male Aging Study. They find lower muscle mass, reduced bone mineral density, anemia, insulin resistence, metabolic syndrome and cardiovascular disease, with greater risks of these signs of androgen deficiency at lower serum testosterone concentrations.

  19. Iron overload induces hypogonadism in male mice via extrahypothalamic mechanisms.

    Science.gov (United States)

    Macchi, Chiara; Steffani, Liliana; Oleari, Roberto; Lettieri, Antonella; Valenti, Luca; Dongiovanni, Paola; Romero-Ruiz, Antonio; Tena-Sempere, Manuel; Cariboni, Anna; Magni, Paolo; Ruscica, Massimiliano

    2017-10-15

    Iron overload leads to multiple organ damage including endocrine organ dysfunctions. Hypogonadism is the most common non-diabetic endocrinopathy in primary and secondary iron overload syndromes. To explore the molecular determinants of iron overload-induced hypogonadism with specific focus on hypothalamic derangements. A dysmetabolic male murine model fed iron-enriched diet (IED) and cell-based models of gonadotropin-releasing hormone (GnRH) neurons were used. Mice fed IED showed severe hypogonadism with a significant reduction of serum levels of testosterone (-83%) and of luteinizing hormone (-86%), as well as reduced body weight gain, body fat and plasma leptin. IED mice had a significant increment in iron concentration in testes and in the pituitary. Even if iron challenge of in vitro neuronal models (GN-11 and GT1-7 GnRH cells) resulted in 10- and 5-fold iron content increments, respectively, no iron content changes were found in vivo in hypothalamus of IED mice. Conversely, mice placed on IED showed a significant increment in hypothalamic GnRH gene expression (+34%) and in the intensity of GnRH-neuron innervation of the median eminence (+1.5-fold); similar changes were found in the murine model HFE -/- , resembling human hemochromatosis. IED-fed adult male mice show severe impairment of hypothalamus-pituitary-gonadal axis without a relevant contribution of the hypothalamic compartment, which thus appears sufficiently protected from systemic iron overload. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Gonadal status and outcome of bariatric surgery in obese men

    NARCIS (Netherlands)

    Aarts, E.O.; Wageningen, B. van; Loves, S.C.; Janssen, I.; Berends, F.; Sweep, F.C.; Boer, H. de

    2014-01-01

    BACKGROUND: Obesity-related hypogonadotrophic hypogonadism (OrHH) occurs in over 40% of morbidly obese men. Obesity-related hypogonadotrophic hypogonadism may reduce the beneficial effects of bariatric surgery. OBJECTIVE: To assess the impact of OrHH on the outcome of bariatric surgery in men.

  1. Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

    Science.gov (United States)

    Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

    2010-09-01

    To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

  2. Hypercalcemia in idiopathic myelofibrosis

    DEFF Research Database (Denmark)

    Voss, A; Schmidt, K; Hasselbalch, H

    1992-01-01

    A case of idiopathic myelofibrosis (IMF) presenting with hypercalcemia and hypercalcitriolemia is reported. It is proposed that ectopic production of the active vitamin D metabolite related to ongoing clonal expansion in the bone marrow accounts for the hypercalcemic state. Consistently low level...

  3. Idiopathic scrotal elephantiasis.

    Science.gov (United States)

    Hornberger, Brad J; Elmore, James M; Roehrborn, Claus G

    2005-02-01

    Scrotal lymphedema (scrotal elephantiasis) is a condition that has historically been described in areas endemic to filariasis. We present a unique case of a 22-year-old man with idiopathic lymphedema isolated to the scrotum. After acquired causes of lymphedema were ruled out, the patient was treated with scrotectomy and scrotal reconstruction.

  4. Idiopathic central diabetes Insipidus.

    Science.gov (United States)

    Grace, Mary; Balachandran, Venu; Menon, Sooraj

    2011-10-01

    Idiopathic central diabetes insipidus (CDI) is a rare disorder characterized clinically by polyuria and polydipsia, and an abnormal urinary concentration without any identified etiology. We report a case of central diabetes insipidus in a 60-year-old lady in the absence of secondary causes like trauma, infection, and infiltrative disorders of brain.

  5. Idiopathic epiretinal membrane

    NARCIS (Netherlands)

    Bu, Shao-Chong; Kuijer, Roelof; Li, Xiao-Rong; Hooymans, Johanna M M; Los, Leonoor I

    2014-01-01

    Background: Idiopathic epiretinal membrane (iERM) is a fibrocellular membrane that proliferates on the inner surface of the retina at the macular area. Membrane contraction is an important sight-threatening event and is due to fibrotic remodeling. Methods: Analysis of the current literature

  6. Juvenile Idiopathic Arthritis

    Directory of Open Access Journals (Sweden)

    Kenan Barut

    2017-04-01

    Full Text Available Juvenile idiopathic arthritis is the most common chronic rheumatic disease of unknown aetiology in childhood and predominantly presents with peripheral arthritis. The disease is divided into several subgroups, according to demographic characteristics, clinical features, treatment modalities and disease prognosis. Systemic juvenile idiopathic arthritis, which is one of the most frequent disease subtypes, is characterized by recurrent fever and rash. Oligoarticular juvenile idiopathic arthritis, common among young female patients, is usually accompanied by anti-nuclear antibodie positivity and anterior uveitis. Seropositive polyarticular juvenile idiopathic arthritis, an analogue of adult rheumatoid arthritis, is seen in less than 10% of paediatric patients. Seronegative polyarticular juvenile idiopathic arthritis, an entity more specific for childhood, appears with widespread large- and small-joint involvement. Enthesitis-related arthritis is a separate disease subtype, characterized by enthesitis and asymmetric lower-extremity arthritis. This disease subtype represents the childhood form of adult spondyloarthropathies, with human leukocyte antigen-B27 positivity and uveitis but commonly without axial skeleton involvement. Juvenile psoriatic arthritis is characterized by a psoriatic rash, accompanied by arthritis, nail pitting and dactylitis. Disease complications can vary from growth retardation and osteoporosis secondary to treatment and disease activity, to life-threatening macrophage activation syndrome with multi-organ insufficiency. With the advent of new therapeutics over the past 15 years, there has been a marked improvement in juvenile idiopathic arthritis treatment and long-term outcome, without any sequelae. The treatment of juvenile idiopathic arthritis patients involves teamwork, including an experienced paediatric rheumatologist, an ophthalmologist, an orthopaedist, a paediatric psychiatrist and a physiotherapist. The primary goals

  7. Induction of puberty in the hypogonadal girl--practices and attitudes of pediatric endocrinologists in Europe

    DEFF Research Database (Denmark)

    Kiess, W; Conway, G; Ritzen, M

    2002-01-01

    The management of children and adolescents with hypogonadism and in particular the induction of puberty in the hypogonadal girl is subject to controversy. Therefore, under the auspices and through organization of the Drugs and Therapeutics Committee of the European Society of Paediatric Endocrino......The management of children and adolescents with hypogonadism and in particular the induction of puberty in the hypogonadal girl is subject to controversy. Therefore, under the auspices and through organization of the Drugs and Therapeutics Committee of the European Society of Paediatric...... of the results of the questionnaires and discussions of that session to further the discussion on and knowledge of current concepts of induction of puberty in the hypogonadal girl in Europe. It became clear from the data accumulated here that the start of treatment, the aims of therapy and the modalities of how...

  8. Genetics Home Reference: adolescent idiopathic scoliosis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Adolescent idiopathic scoliosis Adolescent idiopathic scoliosis Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Adolescent idiopathic scoliosis is an abnormal curvature of the ...

  9. Content Validity of the Hypogonadism Impact of Symptoms Questionnaire (HIS-Q): A Patient-Reported Outcome Measure to Evaluate Symptoms of Hypogonadism.

    Science.gov (United States)

    Gelhorn, Heather L; Vernon, Margaret K; Stewart, Katie D; Miller, Michael G; Brod, Meryl; Althof, Stanley E; DeRogatis, Leonard R; Dobs, Adrian; Seftel, Allen D; Revicki, Dennis A

    2016-04-01

    Hypogonadism, or low testosterone, is a common disorder. There are currently no patient-reported outcome (PRO) instruments designed to comprehensively evaluate the symptoms of hypogonadism and to detect changes in these symptoms in response to treatment. The purpose of this study was to develop a PRO instrument, the Hypogonadism Impact of Symptoms Questionnaire (HIS-Q) and to assess its content validity. A literature review, expert clinician input, and qualitative concept elicitation with 39 male hypogonadism patients (four focus groups: n = 25; individual interviews: n = 14; mean age 52.3 ± 14.3 years) from the USA were used to develop the draft HIS-Q. Subsequent cognitive interviews (n = 29; mean age 51.5 ± 15.4 years) were used to evaluate content validity. Emergent discussion with participants yielded symptoms within the sexual, physical, energy, sleep, cognition, and mood domains. Low libido and tiredness were most commonly reported. The initial version of the HIS-Q includes 53 items that were consistently understood by the participants, who found the instrument to be relevant to their experiences with hypogonadism and comprehensive in the content coverage of symptoms. The HIS-Q is a comprehensive PRO measure of hypogonadism symptom severity in males. Its design elements, including the response options and recall period, were suitable, and content validity was confirmed.

  10. Idiopathic gingival fibromatosis

    Directory of Open Access Journals (Sweden)

    Sujata Rath

    2011-01-01

    This article presents a case report of a 14-year-old female patient with idiopathic gingival fibromatosis in the maxillary region with radiographic feature of congenitally missing maxillary permanent left lateral incisor, maxillary left and right permanent canine, mandibular right second premolar, all third molars along with overretained primary maxillary left lateral incisor and primary mandibular second molar. The treatment rendered in this patient comprised of surgical excision of the hyperplasia under general anesthesia.

  11. Acute Idiopathic Scrotal Edema

    Directory of Open Access Journals (Sweden)

    Micheál Breen

    2013-01-01

    Full Text Available We report a case of acute idiopathic scrotal edema (AISE in a 4-year-old boy who presented with acute scrotal pain and erythema. The clinical features, ultrasound appearance, and natural history of this rare diagnosis are reviewed. In this report, we highlight the importance of good ultrasound technique in differentiating the etiology of the acute scrotum and demonstrate the color Doppler “Fountain Sign” that is highly suggestive of AISE.

  12. Idiopathic granulomatous mastitis

    International Nuclear Information System (INIS)

    Ozturk, E.; Akin, M.; Can, Mehmet F.; Ozrehan, I.; Yagci, G.; Tufan, T.; Kurt, B.

    2009-01-01

    Objective was to discuss the clinical and radiological features and treatment approaches in 14 patients diagnosed with idiopathic granulomatous mastitis (GM). We retrospectively evaluated the clinical features, radiological findings and treatment approaches in 14 patients with idiopathic GM in the General Surgery Department, Gulhane School of Medicine, Ankara, Turkey between April 2000 and June 2006. The mean age of the patients was 34.5 years (range 27-41 years). The complaints at admission were a mass in the breast in 7 (50%) patients, an abscess and a mass in 6 (42.8%) and a skin fisculain one (7.2%). Granulomatous mastitis was unilateral in all subjects (on the right in 5 patients and on the left in 9). All of the patients underwent ultrasonographic evaluation. Mammography was performed in 8 and magnetic resonance imaging in 5 patients. Seven patients (50%) were suspected to have breast carcinoma according radiological findings. We performed the large excision in 11, incisional biopsy plus abscess drainage in one, and incisional biopsy plus abscess drainage plus medical treatment (prednisolone, methotrexate) in 2 patients. Due to the development of abscess after 9 months, drainage and large excision were performed in one patient who received medical treatment. Idiopathic GM is a disease that generally affects young women of reproductive age and may be mistaken for breast carcinoma in clinical and radiological evaluations. The gold standard for the diagnosis is histopathologic evaluation. (author)

  13. Occurrence, patterns & predictors of hypogonadism in patients with HIV infection in India

    Science.gov (United States)

    Dutta, Deep; Sharma, Lokesh Kumar; Sharma, Neera; Gadpayle, Adesh K; Anand, Atul; Gaurav, Kumar; Gupta, Ankit; Poondla, Yashwanth; Kulshreshtha, Bindu

    2017-01-01

    Background & objectives: Data on hypogonadism among human immunodeficiency virus (HIV)-infected Indians are not available. This study was aimed to evaluate the occurrence, pattern and predictors of hypogonadism in HIV-infected Indians. Methods: Consecutive stable HIV-infected patients, 18-70 yr age, without any severe comorbid state, having at least one year follow up data at the antiretroviral therapy clinic, underwent clinical assessment and hormone assays. Results: From initially screened 527 patients, 359 patients (225 males; 134 females), having disease duration of 61.44±39.42 months, 88.58 per cent on highly active antiretroviral therapy (HAART), 40.67 per cent having tuberculosis history and 89.69 per cent with vitamin D insufficiency were analyzed. Testosterone males. Primary, hypogonadotropic hypogonadism (HypoH) and compensated hypogonadism were observed in 7.56, 31.56 and 12.44 per cent males, respectively. Males with hypogonadism were significantly older (P=0.009), and had higher opportunistic infections (Pmale hypogonadism. Age and CD4 count increment in first 6-12 months following HAART were the best predictors of POI. Interpretation & conclusions: Hypogonadism was observed to be a significant problem in HIV-infected men and women in India, affecting 39 and 29 per cent patients, respectively. HypoH was the most common form in males whereas ovarian failure being the most common cause in females. PMID:29067983

  14. The prevalence of Hypogonadism among diabetic and non-diabetic men in Jordan.

    Science.gov (United States)

    Al Hayek, Ayman A; Khawaja, Nahla M; Khader, Yousef S; Jaffal, Sahar K; Ajlouni, Kamel M

    2014-01-01

    Determine the prevalence of hypogonadism among diabetic and non-diabetic men in Jordan. A cross-sectional study of 1717 men (1089 participants with type 2 diabetes and 628 non-diabetic subjects). Both groups were inquired to answer the Androgen Deficiency for aging male (ADAM) questionnaire. Early morning Total testosterone, prolactin, sex hormone binding globulin, follicle stimulating hormone, leutinizing hormone, HbA1c and fasting blood sugar were measured. Hypogonadism was defined as total testosterone Hypogonadism among all study participants was 18.5%. The prevalence of Hypogonadism in diabetic and non-diabetic men was 24.3% and 8.3%, respectively. The mean (SD) total testosterone concentration of diabetic and non-diabetic men was 3.78 ng/ml (1.7) and 4.92 ng/ml (2.5), respectively (P- value Hypogonadism and symptomatic androgen deficiency were negatively and significantly related to diabetes, monthly income and age (P value Hypogonadism is a prevalent disorder among Jordanian diabetic population. Symptoms of androgen deficiency should be corroborated with testosterone level to establish a multidisciplinary approach for management of hypogonadism. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Pubertal induction in hypogonadism: Current approaches including use of gonadotrophins.

    Science.gov (United States)

    Zacharin, Margaret

    2015-06-01

    Primary disorders of the gonad or those secondary to abnormalities of the hypothalamic pituitary axis result in hypogonadism. The range of health problems of childhood and adolescence that affect this axis has increased, as most children now survive chronic illness, but many have persisting deficits in gonadal function as a result of their underlying condition or its treatment. An integrated approach to hormone replacement is needed to optimize adult hormonal and bone health, and to offer opportunities for fertility induction and preservation that were not considered possible in the past. Timing of presentation ranges from birth, with disorders of sexual development, through adolescent pubertal failure, to adult fertility problems. This review addresses diagnosis and management of hypogonadism and focuses on new management strategies to address current concerns with fertility preservation. These include Turner syndrome, and fertility presevation prior to childhood cancer treatment. New strategies for male hormone replacement therapy that may impinge upon future fertility are emphasized. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. Enclomiphene Citrate for the Treatment of Secondary Male Hypogonadism

    Science.gov (United States)

    Rodriguez, Katherine M.; Pastuszak, Alexander W.; Lipshultz, Larry I.

    2016-01-01

    Introduction Hypogonadism is a growing concern in an aging male population. Historically treated using exogenous testosterone, concerns about possible adverse effects of testosterone have led physicians to seek alternative treatment approaches. Areas Covered Enclomiphene citrate is the trans isomer of clomiphene citrate, a non-steroidal estrogen receptor antagonist that is FDA-approved for the treatment of ovarian dysfunction in women. Clomiphene citrate has also been used off-label for many years to treat secondary male hypogonadism, particularly in the setting of male infertility. Here we review the literature examining the efficacy and safety of enclomiphene citrate in the setting of androgen deficiency. Expert Opinion Initial results support the conclusion that enclomiphene citrate increases serum testosterone levels by raising luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, without negatively impacting semen parameters. The ability to treat testosterone deficiency in men while maintaining fertility supports a role for enclomiphene citrate in the treatment of men in whom testosterone therapy is not a suitable option. PMID:27337642

  17. Basic consensus document on late-onset hypogonadism.

    Science.gov (United States)

    Becerra Fernández, Antonio; Enríquez Acosta, Luis

    2008-01-01

    One of the most important elements in men's live is the ability to engage in normal sexual activity; loss of this activity has always been considered especially important. The relationship between sexual activity, as well as other masculine characteristics, and the testicles has been well known since ancient times and has been related to the slow decrease in testosterone secretion with advanced age. Male hypogonadism is one of the most frequent and under-diagnosed endocrine diseases. Several terms have been proposed to refer to clinical situations caused by the age-related decline in male gonadal function; currently, the most widely accepted term is late-onset hypogonadism (LOH). LOH consists of a clinical and biochemical syndrome associated with advanced age (in men), characterized by typical symptoms and reduced serum testosterone concentrations, which can affect multiple organs and systems and reduce quality of life. This syndrome can be treated and the alterations produced can be reversed. To achieve this, a diagnostic protocol that approaches the multiple factors related to the risks and benefits of treatment is required. Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.

  18. [Early-onset and late-onset male hypogonadotropic hypogonadism and osteoporosis].

    Science.gov (United States)

    Okada, Hiroshi; Shin, Takeshi; Kobori, Yoshitomo

    2016-07-01

    Hypogonadism is classified into two major clinical entities, namely early-onset hypogonadism and late-onset hypogonadism. The former is characterized by the malfunction of hypothalamo-pituitary-gonadal(testicular)axis or by the primary hypofunction of testes(e.g. Klinefelter's syndrome). The latter is summarized as LOH syndrome which is attributed to the dropped level of bioavailable testosterone. In these diseases testosterone is the key molecule which may cause various symptoms relating not only to physical health but also to mental or psychologic health. In this review issues concerning bone health in these disease are described.

  19. Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)

    Science.gov (United States)

    ... cause is determined and is referred to as “secondary” intracranial hypertension. What are the risk factors for idiopathic intracranial ... clotting disorders, anemia and malnutrition. Can idiopathic intracranial ... to be “secondary” which affects males and females equally. The second ...

  20. Idiopathic short stature

    Directory of Open Access Journals (Sweden)

    Vlaški Jovan

    2013-01-01

    Full Text Available Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment, which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients’ genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l, without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3 or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

  1. Idiopathic megarectum in children.

    Science.gov (United States)

    Godbole, P P; Pinfield, A; Stringer, M D

    2001-02-01

    There is scant information about the management of idiopathic megarectum in childhood. Children with idiopathic megarectum referred to a single institution between 1994 and 1998 were identified prospectively. Those with Hirschsprung's disease or an anorectal malformation were excluded. The remaining patient group, 22 boys and 7 girls, had a median age of 8.0 years (range 3.5-14.0 y). Median duration of symptoms prior to referral was 2.0 years (range 0.4-11 y). Chronic soiling was the dominant complaint in 28/29 (97%) cases. 23 children had received regular stimulant laxatives for periods ranging from 1 month to 11 years, and 9 children had been treated with regular enemas. The degree of megarectum assessed by both abdominal palpation and plain radiography was: grade 1 (below umbilical level) n=6; grade 2 (at umbilical level) n=15; and grade 3 (above umbilical level) n=8. Hirschsprung's disease was specifically excluded by rectal biopsy in all cases and no patient had evidence of spinal dysraphism. Three boys with massive megarectums and intractable symptoms were treated by a staged Duhamel sigmoid pull-through with excellent functional results. Fifteen patients (52%) were treated by a single manual evacuation under general anaesthesia followed by a daily Bisacodyl 5-10 mg suppository. After a median follow-up of 16 months, 13 continue to respond well with a daily bowel action and no soiling (4 of the 13 have discontinued treatment and remain well). The remaining 11 patients (38%) have continued conventional treatment with oral laxatives but with limited success. Idiopathic megarectum is poorly described in children. It is more common in boys and is often resistant to laxative therapy alone. After appropriate preparation, treatment with stimulant suppositories can be effective. Surgery has a valuable role in selected patients with a massive megarectum.

  2. Idiopathic granulomatous lobular mastitis.

    Science.gov (United States)

    Pereira, Frederick A; Mudgil, Adarsh V; Macias, Edgar S; Karsif, Karen

    2012-02-01

    Idiopathic granulomatous lobular mastitis (IGLM) is a rare breast condition with prominent skin findings. It is typically seen in young parous women. Painful breast masses, draining sinuses, scarring, and breast atrophy are the main clinical manifestations. IGLM can resemble a variety of other inflammatory and neoplastic processes of the breast. It is thought to result from obstruction and rupture of breast lobules. Extravasated breast secretions then induce an inflammatory reaction. Corynebacteria have also been implicated in the pathogenesis. Treatment is surgical, but systemic corticosteroids, methotrexate, and antibiotics also play a role. © 2012 The International Society of Dermatology.

  3. Idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne M; Jensen, Rigmor H

    2015-01-01

    AIMS: The aims of this article are to characterize the headache in idiopathic intracranial hypertension (IIH) and to field-test the ICHD diagnostic criteria for headache attributed to IIH. MATERIALS AND METHODS: We included 44 patients with new-onset IIH. Thirty-four patients with suspected but u...... tinnitus may suggest intracranial hypertension. Based on data from a well-defined IIH cohort, we propose a revision of the ICDH-3 beta diagnostic criteria with improved clinical applicability and increased sensitivity and specificity....

  4. Sex differences in visuospatial abilities persist during induced hypogonadism.

    Science.gov (United States)

    Guerrieri, Gioia M; Wakim, Paul G; Keenan, P A; Schenkel, Linda A; Berlin, Kate; Gibson, Carolyn J; Rubinow, David R; Schmidt, Peter J

    2016-01-29

    Despite well-established sex differences in the performance on tests of several cognitive domains (e.g., visuospatial ability), few studies in humans have evaluated if these sex differences are evident both in the presence of circulating sex hormones and during sex steroid hormonal suppression. Sex differences identified in the relative absence of circulating levels of estradiol and testosterone suggest that differences in brain structure or function exist independent of current hormonal environment and are more likely a reflection of differing developmental exposures and/or genetic substrates. To evaluate cognitive performance in healthy eugonadal men and women before and again during GnRH agonist-induced hypogonadism. Men (n=16) and women (n=15) without medical or psychiatric illness were matched for IQ. Cognitive tests were performed at baseline (when eugonadal) and after 6-8 weeks of GnRH agonist-induced gonadal suppression. The test batteries included measures of verbal and spatial memory, spatial ability, verbal fluency, motor speed/dexterity, and attention/concentration. Data were analyzed using repeated-measures models. During both eugonadism and hypogonadism, men performed significantly better than women on several measures of visuospatial performance including mental rotation, line orientation, Money Road Map, Porteus maze, and complex figure drawing. Although some test performances showed an effect of hormone treatment, the majority of these differences reflected an improved performance during hypogonadism compared with baseline (and probably reflected practice effects). The well-documented male advantage in visuospatial performance, which we observed during eugonadal conditions, was maintained in the context of short-term suppression of gonadal function in both men and women. These findings suggest that, in humans, sex differences in visuospatial performance are not merely dependent on differences in the current circulating sex steroid environment. Thus

  5. Effects of hypogonadism on bone metabolism in female adolescents and young adults.

    Science.gov (United States)

    Misra, Madhusmita

    2012-01-24

    Gonadal steroids, including androgens and oestrogens, play a critical part in bone metabolism, and conditions associated with a deficiency of gonadal steroids can reduce BMD in adults and impair bone accrual in adolescents. In addition, other associated hormone alterations, for example, insulin-like growth factor 1 deficiency or high cortisol levels, can further exacerbate the effect of hypogonadism on bone metabolism, as can factors such as calcium and vitamin D deficiency, low body weight and exercise status. This Review discusses the effects of different hypogonadal states on bone metabolism in female adolescents and young adults, with particular emphasis on conditions associated with low energy availability, such as anorexia nervosa and athletic amenorrhoea, in which many factors other than hypogonadism affect bone. In contrast to most hypogonadal conditions, in which replacement of gonadal steroids is sufficient to normalize bone accrual rates and BMD, gonadal steroid replacement may not be sufficient to normalize bone metabolism in these states of energy deficit.

  6. Selective androgen receptor modulators for the treatment of late onset male hypogonadism.

    Science.gov (United States)

    Coss, Christopher C; Jones, Amanda; Hancock, Michael L; Steiner, Mitchell S; Dalton, James T

    2014-01-01

    Several testosterone preparations are used in the treatment of hypogonadism in the ageing male. These therapies differ in their convenience, flexibility, regional availability and expense but share their pharmacokinetic basis of approval and dearth of long-term safety data. The brevity and relatively reduced cost of pharmacokinetic based registration trials provides little commercial incentive to develop improved novel therapies for the treatment of late onset male hypogonadism. Selective androgen receptor modulators (SARMs) have been shown to provide anabolic benefit in the absence of androgenic effects on prostate, hair and skin. Current clinical development for SARMs is focused on acute muscle wasting conditions with defi ned clinical endpoints of physical function and lean body mass. Similar regulatory clarity concerning clinical deficits in men with hypogonadism is required before the beneficial pharmacology and desirable pharmacokinetics of SARMs can be employed in the treatment of late onset male hypogonadism.

  7. Selective androgen receptor modulators for the treatment of late onset male hypogonadism

    Directory of Open Access Journals (Sweden)

    Christopher C Coss

    2014-04-01

    Full Text Available Several testosterone preparations are used in the treatment of hypogonadism in the ageing male. These therapies differ in their convenience, flexibility, regional availability and expense but share their pharmacokinetic basis of approval and dearth of long-term safety data. The brevity and relatively reduced cost of pharmacokinetic based registration trials provides little commercial incentive to develop improved novel therapies for the treatment of late onset male hypogonadism. Selective androgen receptor modulators (SARMs have been shown to provide anabolic benefit in the absence of androgenic effects on prostate, hair and skin. Current clinical development for SARMs is focused on acute muscle wasting conditions with defi ned clinical endpoints of physical function and lean body mass. Similar regulatory clarity concerning clinical deficits in men with hypogonadism is required before the beneficial pharmacology and desirable pharmacokinetics of SARMs can be employed in the treatment of late onset male hypogonadism.

  8. Selective androgen receptor modulators for the treatment of late onset male hypogonadism

    Science.gov (United States)

    Coss, Christopher C; Jones, Amanda; Hancock, Michael L; Steiner, Mitchell S; Dalton, James T

    2014-01-01

    Several testosterone preparations are used in the treatment of hypogonadism in the ageing male. These therapies differ in their convenience, flexibility, regional availability and expense but share their pharmacokinetic basis of approval and dearth of long-term safety data. The brevity and relatively reduced cost of pharmacokinetic based registration trials provides little commercial incentive to develop improved novel therapies for the treatment of late onset male hypogonadism. Selective androgen receptor modulators (SARMs) have been shown to provide anabolic benefit in the absence of androgenic effects on prostate, hair and skin. Current clinical development for SARMs is focused on acute muscle wasting conditions with defined clinical endpoints of physical function and lean body mass. Similar regulatory clarity concerning clinical deficits in men with hypogonadism is required before the beneficial pharmacology and desirable pharmacokinetics of SARMs can be employed in the treatment of late onset male hypogonadism. PMID:24407183

  9. Idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Xaubet, Antoni; Ancochea, Julio; Molina-Molina, María

    2017-02-23

    Idiopathic pulmonary fibrosis is a fibrosing interstitial pneumonia associated with the radiological and/or histological pattern of usual interstitial pneumonia. Its aetiology is unknown, but probably comprises the action of endogenous and exogenous micro-environmental factors in subjects with genetic predisposition. Its diagnosis is based on the presence of characteristic findings of high-resolution computed tomography scans and pulmonary biopsies in absence of interstitial lung diseases of other aetiologies. Its clinical evolution is variable, although the mean survival rate is 2-5 years as of its clinical presentation. Patients with idiopathic pulmonary fibrosis may present complications and comorbidities which modify the disease's clinical course and prognosis. In the mild-moderate disease, the treatment consists of the administration of anti-fibrotic drugs. In severe disease, the best therapeutic option is pulmonary transplantation. In this paper we review the diagnostic and therapeutic aspects of the disease. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  10. Case of Combination of Hyperprolactinemic Hypogonadism and Mosaic Turner Syndrome

    Directory of Open Access Journals (Sweden)

    V.S. Vernyhorodskyi

    2016-04-01

    Full Text Available After detail examination of 24-year-old female patient (cariotype — 46XX/45XO, sex chromatin — 11 %, serum prolactin level — more than 200 mIU/ml (normal level — less than 26,72, ovarian ultrasound, geneticist consultation, magnetic resonance imaging of the hypophysis, the сlinical diagnosis was established: pituitary microadenoma. Hyperprolactinemic hypogonadism. Mosaic Turner syndrome. Genital infantilism. Infertility of endocrine origin. First menstruation occurred in 3 months, and pregnancy — in 4 month after initiation of the treatment with alactin 0.5 mg twice a week, after that bromocriptine 2.5 mg once a day was administered. On the 39–40th week of pregnancy, the patient gave birth to a girl (via cesarean section, whose weight was 3.4 kg and height — 48 cm.

  11. Hypogonadism alters cecal and fecal microbiota in male mice.

    Science.gov (United States)

    Harada, Naoki; Hanaoka, Ryo; Hanada, Kazuki; Izawa, Takeshi; Inui, Hiroshi; Yamaji, Ryoichi

    2016-11-01

    Low testosterone levels increase the risk for cardiovascular disease in men and lead to shorter life spans. Our recent study showed that androgen deprivation via castration altered fecal microbiota and exacerbated risk factors for cardiovascular disease, including obesity, impaired fasting glucose, excess hepatic triglyceride accumulation, and thigh muscle weight loss only in high-fat diet (HFD)-fed male mice. However, when mice were administered antibiotics that disrupted the gut microbiota, castration did not increase cardiovascular risks or decrease the ratio of dried feces to food intake. Here, we show that changes in cecal microbiota (e.g., an increased Firmicutes/Bacteroidetes ratio and number of Lactobacillus species) were consistent with changes in feces and that there was a decreased cecal content secondary to castration in HFD mice. Castration increased rectal body temperature and plasma adiponectin, irrespective of diet. Changes in the gut microbiome may provide novel insight into hypogonadism-induced cardiovascular diseases.

  12. Male Hypogonadism and Osteoporosis: The Effects, Clinical Consequences, and Treatment of Testosterone Deficiency in Bone Health

    OpenAIRE

    Golds, Gary; Houdek, Devon; Arnason, Terra

    2017-01-01

    It is well recognized that bone loss accelerates in hypogonadal states, with female menopause being the classic example of sex hormones affecting the regulation of bone metabolism. Underrepresented is our knowledge of the clinical and metabolic consequences of overt male hypogonadism, as well as the more subtle age-related decline in testosterone on bone quality. While menopause and estrogen deficiency are well-known risk factors for osteoporosis in women, the effects of age-related testoster...

  13. An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

    OpenAIRE

    Prasad Katulanda; J. Rasika D. K. Rajapakse; Jayani Kariyawasam; Rohan Jayasekara; Vajira H. W. Dissanayake

    2012-01-01

    48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention defici...

  14. Hypogonadism and Male Obesity: Focus on Unresolved Questions.

    Science.gov (United States)

    Grossmann, Mathis

    2018-04-23

    Obesity, increasing in prevalence globally, is the clinical condition most strongly associated with lowered testosterone concentrations in men, and presents as one of the strongest predictors of receiving testosterone treatment. While low circulating total testosterone concentrations in modest obesity primarily reflect reduced concentrations of sex hormone binding globulin, more marked obesity can lead to genuine hypothalamic-pituitary-testicular axis (HPT) suppression. HPT axis suppression is likely mediated via pro-inflammatory cytokine and dysregulated leptin signalling and aggravated by associated comorbidities. Whether estradiol-mediated negative hypothalamic-pituitary feedback plays a pathogenic role requires further study. Although the obesity-hypogonadism relationship is bi-directional, the effects of obesity on testosterone concentrations are more substantial than the effects of testosterone on adiposity. In markedly obese men submitted to bariatric surgery, substantial weight loss is very effective in reactivating the HPT axis. In contrast, lifestyle measures are less effective in reducing weight and generally only associated with modest increases in circulating testosterone. In randomised controlled clinical trials (RCTs), testosterone treatment does not reduce body weight, but modestly reduces fat mass and increases muscle mass. Short-term studies have shown that testosterone treatment in carefully selected obese men may have modest benefits on symptoms of androgen deficiency and body composition even additive to diet alone. However, longer-term, larger RCTs designed for patient-important outcomes and potential risks are required. Until such trials are available, testosterone treatment cannot be routinely recommended for men with obesity-associated non-classical hypogonadism. Lifestyle measures or where indicated bariatric surgery to achieve weight loss, and optimisation of comorbidities remain first line. This article is protected by copyright. All

  15. Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement Therapy

    Directory of Open Access Journals (Sweden)

    Prasanth N. Surampudi

    2012-01-01

    Full Text Available Hypogonadism in older men is a syndrome characterized by low serum testosterone levels and clinical symptoms often seen in hypogonadal men of younger age. These symptoms include decreased libido, erectile dysfunction, decreased vitality, decreased muscle mass, increased adiposity, depressed mood, osteopenia, and osteoporosis. Hypogonadism is a common disorder in aging men with a significant percentage of men over 60 years of age having serum testosterone levels below the lower limits of young male adults. There are a variety of testosterone formulations available for treatment of hypogonadism. Data from many small studies indicate that testosterone therapy offers several potential benefits to older hypogonadal men. A large multicenter NIH supported double blind, placebo controlled study is ongoing, and this study should greatly enhance the information available on efficacy and side effects of treatment. While safety data is available across many age groups, there are still unresolved concerns associated with testosterone therapy. We have reviewed the diagnostic methods as well as benefits and risks of testosterone replacement therapy for hypogonadism in aging men.

  16. Guidelines for the Diagnosis and Treatment of testosterone deficiency (hypogonadism in male patients with diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Ivan I. Dedov

    2017-12-01

    Full Text Available Hypogonadism in men, defined as a reduction in serum testosterone in combination with characteristic symptoms and/or signs (described in detail later, is common in diabetes mellitus (DM. These recommendations do not cover the whole range of pathologies that cause the development of testosterone deficiency (hypogonadism, but focus on its clinical variants and characteristic for men with diabetes. The recommendations provide data on the prevalence of hypogonadism in diabetes, its etiology. In the section "diagnostics" the features of anamnesis of patients with hypogonadism with diabetes, the necessary methods of physical and laboratory examination are presented in detail. The risk factors and clinical consequences of hypogonadism are separately examined. In the section "choice of treatment methods", there are possible treatment options for such patients using various androgenic therapies, taking into account the needs of the man, maintaining his reproductive function and risk factors. Particular attention is paid to indications, contraindications and risk factors for androgen therapy in men with diabetes, especially in old age. With this in mind, principles for monitoring the treatment are developed. Based on a large number of studies, favorable effects of androgen replacement therapy in men with hypogonadism and diabetes have been demonstrated.

  17. Male Hypogonadism and Osteoporosis: The Effects, Clinical Consequences, and Treatment of Testosterone Deficiency in Bone Health

    Science.gov (United States)

    Houdek, Devon

    2017-01-01

    It is well recognized that bone loss accelerates in hypogonadal states, with female menopause being the classic example of sex hormones affecting the regulation of bone metabolism. Underrepresented is our knowledge of the clinical and metabolic consequences of overt male hypogonadism, as well as the more subtle age-related decline in testosterone on bone quality. While menopause and estrogen deficiency are well-known risk factors for osteoporosis in women, the effects of age-related testosterone decline in men on bone health are less well known. Much of our knowledge comes from observational studies and retrospective analysis on small groups of men with variable causes of primary or secondary hypogonadism and mild to overt testosterone deficiencies. This review aims to present the current knowledge of the consequences of adult male hypogonadism on bone metabolism. The direct and indirect effects of testosterone on bone cells will be explored as well as the important differences in male osteoporosis and assessment as compared to that in females. The clinical consequence of both primary and secondary hypogonadism, as well as testosterone decline in older males, on bone density and fracture risk in men will be summarized. Finally, the therapeutic options and their efficacy in male osteoporosis and hypogonadism will be discussed. PMID:28408926

  18. Male Hypogonadism and Osteoporosis: The Effects, Clinical Consequences, and Treatment of Testosterone Deficiency in Bone Health

    Directory of Open Access Journals (Sweden)

    Gary Golds

    2017-01-01

    Full Text Available It is well recognized that bone loss accelerates in hypogonadal states, with female menopause being the classic example of sex hormones affecting the regulation of bone metabolism. Underrepresented is our knowledge of the clinical and metabolic consequences of overt male hypogonadism, as well as the more subtle age-related decline in testosterone on bone quality. While menopause and estrogen deficiency are well-known risk factors for osteoporosis in women, the effects of age-related testosterone decline in men on bone health are less well known. Much of our knowledge comes from observational studies and retrospective analysis on small groups of men with variable causes of primary or secondary hypogonadism and mild to overt testosterone deficiencies. This review aims to present the current knowledge of the consequences of adult male hypogonadism on bone metabolism. The direct and indirect effects of testosterone on bone cells will be explored as well as the important differences in male osteoporosis and assessment as compared to that in females. The clinical consequence of both primary and secondary hypogonadism, as well as testosterone decline in older males, on bone density and fracture risk in men will be summarized. Finally, the therapeutic options and their efficacy in male osteoporosis and hypogonadism will be discussed.

  19. Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement Therapy

    Science.gov (United States)

    Surampudi, Prasanth N.; Wang, Christina; Swerdloff, Ronald

    2012-01-01

    Hypogonadism in older men is a syndrome characterized by low serum testosterone levels and clinical symptoms often seen in hypogonadal men of younger age. These symptoms include decreased libido, erectile dysfunction, decreased vitality, decreased muscle mass, increased adiposity, depressed mood, osteopenia, and osteoporosis. Hypogonadism is a common disorder in aging men with a significant percentage of men over 60 years of age having serum testosterone levels below the lower limits of young male adults. There are a variety of testosterone formulations available for treatment of hypogonadism. Data from many small studies indicate that testosterone therapy offers several potential benefits to older hypogonadal men. A large multicenter NIH supported double blind, placebo controlled study is ongoing, and this study should greatly enhance the information available on efficacy and side effects of treatment. While safety data is available across many age groups, there are still unresolved concerns associated with testosterone therapy. We have reviewed the diagnostic methods as well as benefits and risks of testosterone replacement therapy for hypogonadism in aging men. PMID:22505891

  20. Circulating endothelial cells as marker of endothelial damage in male hypogonadism.

    Science.gov (United States)

    Milardi, Domenico; Grande, Giuseppe; Giampietro, Antonella; Vendittelli, Francesca; Palumbo, Sara; Tartaglione, Linda; Marana, Riccardo; Pontecorvi, Alfredo; de Marinis, Laura; Zuppi, Cecilia; Capoluongo, Ettore

    2012-01-01

    Testosterone deficiency has become a frequently diagnosed condition in today's society affected by epidemic obesity, and is associated with cardiovascular risk. Recent studies have established the importance of altered vascular endothelium function in cardiovascular disease. The damage to the endothelium might also cause endothelial cell detachment, resulting in increased numbers of circulating endothelial cells (CEC) within the bloodstream. To evaluate whether hypogonadism could modify CEC count in peripheral bloodstream, we investigated peripheral blood CEC count using the CellSearch System, a semiautomatic method to accurately and reliably enumerate CECs, which are sorted based on a CD146(+), CD105(+), DAPI(+), CD45(-) phenotype, in a population of 20 patients with hypogonadism. The control group comprised 10 age- and sex-matched healthy participants. CEC count per milliliter was significantly increased in patients with hypogonadism vs the control group. In the group with hypogonadism, an inverse exponential correlation was present between testosterone levels and CEC count per milliliter. A direct linear correlation was present between waist circumference and CECs and between body mass index and CECs. The regression analysis showed that testosterone was the significant independent determinant of CECs. Our results underline that male hypogonadism is associated with endothelial dysfunction. The correlation between CEC and waist circumference underlines that visceral obesity may be synergically implicated in this regulation. Future studies are required to unveil the mechanisms involved in the pathogenesis of testosterone-induced endothelial disfunction, which may provide novel therapeutic targets to be incorporated in the management of hypogonadism.

  1. The Triglycerides and Glucose Index rather than HOMA-IR is more associated with Hypogonadism in Chinese men.

    Science.gov (United States)

    Zhang, Kun; Chen, Yi; Liu, Lijie; Lu, Meng; Cheng, Jing; Gao, Fengbin; Wang, Ningjian; Shen, Zhoujun; Lu, Yingli

    2017-11-20

    Previous studies have reported that insulin resistant and low testosterone are related. The triglyceride and glucose index (TyG) well mirrors insulin sensitivity. No study investigated the application of TyG in male hypogonadism. We aimed to explore whether TyG was associated with hypogonadism, and also evaluate the ability of TyG compared to HOMA-IR as a possible hypogonadism predictor. A total of 4299 male subjects were enrolled from 22 sites in East China. Hypogonadism was defined as total testosterone HOMA-IR (0.68, 95% CI 0.66,0.70). Thus, the TyG was significantly associated with a higher prevalence of hypogonadism in Chinese men. TyG had a better predictive power for hypogonadism than HOMA-IR.

  2. Idiopathic Normal Pressure Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Basant R. Nassar BS

    2016-04-01

    Full Text Available Idiopathic normal pressure hydrocephalus (iNPH is a potentially reversible neurodegenerative disease commonly characterized by a triad of dementia, gait, and urinary disturbance. Advancements in diagnosis and treatment have aided in properly identifying and improving symptoms in patients. However, a large proportion of iNPH patients remain either undiagnosed or misdiagnosed. Using PubMed search engine of keywords “normal pressure hydrocephalus,” “diagnosis,” “shunt treatment,” “biomarkers,” “gait disturbances,” “cognitive function,” “neuropsychology,” “imaging,” and “pathogenesis,” articles were obtained for this review. The majority of the articles were retrieved from the past 10 years. The purpose of this review article is to aid general practitioners in further understanding current findings on the pathogenesis, diagnosis, and treatment of iNPH.

  3. Idiopathic Bilateral Bloody Tearing

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    Emrullah Beyazyıldız

    2015-01-01

    Full Text Available Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon.

  4. Idiopathic thrombocytopenic purpura

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    L Kayal

    2014-01-01

    Full Text Available Idiopathic thrombocytopenic purpura (ITP is defined as a hematologic disorder, characterized by isolated thrombocytopenia without a clinically apparent cause. The major causes of accelerated platelet consumption include immune thrombocytopenia, decreased bone marrow production, and increased splenic sequestration. The clinical presentation may be acute with severe bleeding, or insidious with slow development with mild or no symptoms. The initial laboratory tests useful at the first visit to predict future diagnosis were erythrocyte count, leukocyte count, anti-glycoprotein IIb/IIIa antibodies, reticulated platelets, plasma thrombopoietin level. Treatment should be restricted to those patients with moderate or severe thrombocytopenia who are bleeding or at risk of bleeding. We present a case report on ITP with clinical presentation, diagnosis and management.

  5. Persistent idiopathic facial pain

    DEFF Research Database (Denmark)

    Maarbjerg, Stine; Wolfram, Frauke; Heinskou, Tone Bruvik

    2017-01-01

    Introduction: Persistent idiopathic facial pain (PIFP) is a poorly understood chronic orofacial pain disorder and a differential diagnosis to trigeminal neuralgia. To address the lack of systematic studies in PIFP we here report clinical characteristics and neuroimaging findings in PIFP. Methods...... pain 7 (13%), hypoesthesia 23 (48%), depression 16 (30%) and other chronic pain conditions 17 (32%) and a low prevalence of stabbing pain 21 (40%), touch-evoked pain 14 (26%) and remission periods 10 (19%). The odds ratio between neurovascular contact and the painful side was 1.4 (95% Cl 0.4–4.4, p = 0.......565) and the odds ratio between neurovascular contact with displacement of the trigeminal nerve and the painful side was 0.2 (95% Cl 0.0–2.1, p = 0.195). Conclusion: PIFP is separated from trigeminal neuralgia both with respect to the clinical characteristics and neuroimaging findings, as NVC was not associated...

  6. ADHD in idiopathic epilepsy

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    Marcos H. C. Duran

    2014-01-01

    Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  7. Atypical idiopathic inflammatory demyelinating lesions

    DEFF Research Database (Denmark)

    Wallner-Blazek, Mirja; Rovira, Alex; Fillipp, Massimo

    2013-01-01

    Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be class......Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can...... be classified according to previously suggested radiologic characteristics and how this classification relates to prognosis. Searching the databases of eight tertiary referral centres we identified 90 adult patients (61 women, 29 men; mean age 34 years) with ≥1 AIIDL. We collected their demographic, clinical...

  8. Idiopathic ventricular tachycardia and fibrillation.

    Science.gov (United States)

    Belhassen, B; Viskin, S

    1993-06-01

    Important data have recently been added to our understanding of sustained ventricular tachyarrhythmias occurring in the absence of demonstrable heart disease. Idiopathic ventricular tachycardia (VT) is usually of monomorphic configuration and can be classified according to its site of origin as either right monomorphic (70% of all idiopathic VTs) or left monomorphic VT. Several physiopathological types of monomorphic VT can be presently individualized, according to their mode of presentation, their relationship to adrenergic stress, or their response to various drugs. The long-term prognosis is usually good. Idiopathic polymorphic VT is a much rarer type of arrhythmia with a less favorable prognosis. Idiopathic ventricular fibrillation may represent an underestimated cause of sudden cardiac death in ostensibly healty patients. A high incidence of inducibility of sustained polymorphic VT with programmed ventricular stimulation has been found by our group, but not by others. Long-term prognosis on Class IA antiarrhythmic medications that are highly effective at electrophysiologic study appears excellent.

  9. Idiopathic pulmonary fibrosis: treatment update.

    LENUS (Irish Health Repository)

    O'Connell, Oisin J

    2011-11-01

    Idiopathic pulmonary fibrosis (IPF) is the most common of the idiopathic interstitial pneumonias. Despite multiple recent clinical trials, there is no strong evidence supporting a survival advantage for any agent in the management of patients with IPF. The limited effectiveness of current treatment regimes has led to a search for novel therapies including antifibrotic strategies. This article reviews the evidence supporting the treatments currently used in the management of IPF.

  10. A study to evaluate the prevalence of hypogonadism in Indian males with Type-2 diabetes mellitus

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    Pankaj Kumar Agarwal

    2017-01-01

    Full Text Available Background: A high prevalence of hypogonadism in men with Type-2 diabetes mellitus (T2DM has been reported worldwide. Objectives: To evaluate the prevalence of hypogonadism in Indian males with T2DM and assess the primary and secondary hypogonadism along with androgen deficiency. Materials and Methods: In this cross-sectional study, 900 men with T2DM were evaluated using androgen deficiency in aging male questionnaire. They were screened for demographic characteristics, gonadal hormone levels, lipid profile, and glycosylated hemoglobin. Results: The prevalence of hypogonadism in T2DM patients was found to be 20.7% (186 out of 900. Hypogonadism was of testicular origin (primary in 48/186 (25.8% patients, of pituitary or hypothalamic origin (secondary in 14/186 (7.53%, and remaining 124/186 (66.67% patients were found to have low testosterone with the inappropriate normal level of luteinizing hormone and Follicle-stimulating hormone. 451/900 (50.1% patients were only symptomatic but had normal testosterone levels. Further 263 patients out 900 were asymptomatic, of which 51/900 (5.7% patients had low levels of testosterone and 212/900 (23.5% patients had normal testosterone level without symptoms. There were no deaths or other serious adverse events except mild pyrexia which was not related to the study. Conclusion: Hypogonadism diagnosis, at times, might not be validated with the help of androgen deficiency questionnaire or symptoms only. Given the large number of patients of T2DM in India, the incidence of hypogonadism is more in diabetic patients as compared to the general population. Hence, implementation of screening programs in diabetic patients is necessary to understand and detect individuals with low serum total testosterone at any early stage and to supplement testosterone accordingly.

  11. Male and female hypogonadism are highly prevalent in South Africans with Addison's disease.

    Science.gov (United States)

    Ross, I L; Levitt, N S; Blom, D J; Haarburger, D

    2014-09-01

    Hypogonadism may complicate Addison's disease (primary hypoadrenalism), but prevalence and metabolic sequelae of hypogonadism in Addison's disease are poorly described. We recruited patients from the South African Addison's disease national registry who received stable replacement doses of hydrocortisone and had no acute illness. Male biochemical testosterone deficiency was defined as an early morning basal testosterone10 or 12 IU/l). Testosterone deficiency did not correlate with age, disease duration or hydrocortisone dose. Untreated male hypogonadal subjects had a higher (mean ± standard deviation) BMI compared to eugonadal subjects 29.2 ± 4.9 kg/m(2) vs. 24.7 ± 3.4 kg/m(2) (p=0.01) and a higher median (interquartile range) high-sensitive-CRP 6.4 (2.5-14.0) mg/l vs. 1.45 (0.6-2.8) mg/l (p=0.002). There were no differences between the 2 groups in lipids, lipoproteins and fasting glucose. The median (interquartile range) DHEAS was lower in the hypogonadal 0.31 (0.27-0.37) μmol/l, compared with the eugonadal group 0.75 (0.50-1.51) μmol/l (p=0.005). POF was documented in 11% of female patients. Male testosterone deficiency was highly prevalent in this cohort and was primarily due to secondary hypogonadism. Only BMI and hs-CRP were increased in untreated male hypogonadal subjects. Male and female hypogonadism appears to be a common complication of Addison's disease and may contribute to its morbidity. © Georg Thieme Verlag KG Stuttgart · New York.

  12. Systematic literature review of the risk factors, comorbidities, and consequences of hypogonadism in men.

    Science.gov (United States)

    Zarotsky, V; Huang, M-Y; Carman, W; Morgentaler, A; Singhal, P K; Coffin, D; Jones, T H

    2014-11-01

    The objective of this review was to summarize the literature on the risk factors, comorbidities, and consequences of male hypogonadism, which is defined as a syndrome complex that includes biochemical confirmation of low testosterone (T) and the consistent symptoms and signs associated with low T. A systematic literature search was performed in PubMed/MEDLINE, EMBASE, Cochrane Library for articles published in the last 10 years on risk factors, comorbidities, and consequences of male hypogonadism. Of the 53 relevant studies identified, nine examined potential risk factors, 14 examined potential comorbidities, and 30 examined potential consequences of male hypogonadism. Based on studies conducted in Asia, Australia, Europe, and North & South America, the important factors that predicted and correlated with hypogonadism were advanced age, obesity, a diagnosis of metabolic syndrome (MetS), and a poor general health status. Diabetes mellitus was correlated with hypogonadism in most studies, but was not established as a risk factor. Although diseases, such as coronary heart disease, hypertension, stroke, and peripheral arterial disease did not predict hypogonadism, they did correlate with incident low T. The data reviewed on potential consequences suggest that low T levels may be linked to earlier all-cause and cardiovascular related mortality among men. This literature review suggests that men with certain factors, such as advanced age, obesity, MetS, and poor general health, are more likely to have and develop hypogonadism. Low levels of T may have important long-term negative health consequences. © 2014 American Society of Andrology and European Academy of Andrology.

  13. Clinical Characteristics, Health Care Utilization and Costs Among Men with Primary or Secondary Hypogonadism in a US Commercially Insured Population.

    Science.gov (United States)

    Grabner, Michael; Bodhani, Amit; Khandelwal, Nikhil; Palli, Swetha; Bonine, Nicole; Khera, Mohit

    2017-01-01

    Hypogonadism is broadly associated with increases in chronic comorbid conditions and health care costs. Little is known about the specific impact of primary and secondary hypogonadism on health care costs. To characterize the health care cost and utilization burden of primary and secondary hypogonadism in a population of US men with commercial insurance. Newly diagnosed patients with International Classification of Diseases, Ninth Revision, Clinical Modification codes associated with specific medical conditions known to have a high prevalence of testosterone deficiency (ie, relating to primary or secondary hypogonadism) or who had fills for testosterone replacement therapy from January 1, 2007 through April 30, 2013 were identified in administrative claims data from the HealthCore Integrated Research Database. A cohort of patients without hypogonadism was matched on demographics and comorbidities. The matched hypogonadism and non-hypogonadism cohorts (n = 5,777 in each cohort) were compared during a 12-month follow-up period. Direct health care expenditures and utilization were assessed for all causes and for hypogonadism-related claims. Costs included out-of-pocket patient expenditures and those paid by the insurer. Hypogonadism and matched non-hypogonadism cohorts were similar in demographics (mean age = 50 years) and diagnosed comorbid conditions in the 12 months preceding the index date. In the year after the index date, mean all-cause expenditures for patients with hypogonadism increased by 62% (from $5,425 to $8,813) compared with 25% for the matched controls (from $4,786 to $5,992; P groups). Approximately 16% of total mean costs ($1,377), primarily outpatient and pharmacy costs, were identifiable as related to hypogonadism. These data from a population of US men with commercial insurance coverage showed a greater resource use burden for patients with primary and secondary hypogonadism compared with similar patients without hypogonadism. Additional

  14. Assessment of Hypogonadism in Men With Type 2 Diabetes: A Cross-Sectional Study From Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Ayman Abdullah Al Hayek

    2017-05-01

    Full Text Available Background/objectives: A high incidence of hypogonadism in men with type 2 diabetes (T2D has been globally reported. This study aimed to determining the frequency of hypogonadism and related risk factors among men with T2D in a single-site hospital in Saudi Arabia. Design and methods: A cross-sectional study was performed on 157 men with T2D (between 30 and 70 years of age. Using a prestructured questionnaire, the demographic features of these patients were gathered and their medical records were referred to gather information regarding the duration of the diabetes, smoking habits, and the presence of retinopathy, neuropathy, and nephropathy. Besides these, the biochemical parameters, total testosterone (TT, free testosterone, sex hormone–binding globulin, follicle-stimulating hormone, luteinizing hormone, prolactin, serum lipids, and glycosylated hemoglobin were also recorded. All the patients submitted the fully completed Androgen Deficiency in Aging Male (ADAM questionnaire. The combination of symptoms (positive ADAM score plus a TT level ⩽8 nmol/L constituted the condition of hypogonadism. Results: The total frequency of hypogonadism was 22.9% (36/157. Of the 157 total patients, 123 (78.3% were shown to be ADAM positive, and of these, 90 (73.2% exhibited decreased libido, 116 (94.3% had weak erections, and 99 (80.5% reported more than 3 symptoms of ADAM. Of these hypogonadic patients, 22.2% (n = 8 revealed primary hypogonadism, whereas 77.8% (n = 28 showed secondary hypogonadism. From the univariate analysis conducted, significant relationship was observed between treatment type, body mass index (BMI, and hypogonadism. The regression analysis showed BMI acting an independent risk factor of hypogonadism. Conclusions: Saudi men with T2D revealed a high incidence of hypogonadism. Body mass index was identified as an independent risk factor for hypogonadism.

  15. Assessment of Hypogonadism in Men With Type 2 Diabetes: A Cross-Sectional Study From Saudi Arabia

    Science.gov (United States)

    Al Hayek, Ayman Abdullah; Robert, Asirvatham Alwin; Alshammari, Ghazi; Hakami, Husain; Al Dawish, Mohamed Abdulaziz

    2017-01-01

    BACKGROUND/OBJECTIVES A high incidence of hypogonadism in men with type 2 diabetes (T2D) has been globally reported. This study aimed to determining the frequency of hypogonadism and related risk factors among men with T2D in a single-site hospital in Saudi Arabia. DESIGN AND METHODS A cross-sectional study was performed on 157 men with T2D (between 30 and 70 years of age). Using a prestructured questionnaire, the demographic features of these patients were gathered and their medical records were referred to gather information regarding the duration of the diabetes, smoking habits, and the presence of retinopathy, neuropathy, and nephropathy. Besides these, the biochemical parameters, total testosterone (TT), free testosterone, sex hormone–binding globulin, follicle-stimulating hormone, luteinizing hormone, prolactin, serum lipids, and glycosylated hemoglobin were also recorded. All the patients submitted the fully completed Androgen Deficiency in Aging Male (ADAM) questionnaire. The combination of symptoms (positive ADAM score) plus a TT level ⩽8 nmol/L constituted the condition of hypogonadism. RESULTS The total frequency of hypogonadism was 22.9% (36/157). Of the 157 total patients, 123 (78.3%) were shown to be ADAM positive, and of these, 90 (73.2%) exhibited decreased libido, 116 (94.3%) had weak erections, and 99 (80.5%) reported more than 3 symptoms of ADAM. Of these hypogonadic patients, 22.2% (n = 8) revealed primary hypogonadism, whereas 77.8% (n = 28) showed secondary hypogonadism. From the univariate analysis conducted, significant relationship was observed between treatment type, body mass index (BMI), and hypogonadism. The regression analysis showed BMI acting an independent risk factor of hypogonadism. CONCLUSIONS Saudi men with T2D revealed a high incidence of hypogonadism. Body mass index was identified as an independent risk factor for hypogonadism. PMID:28579862

  16. Idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Noble Paul W

    2008-03-01

    Full Text Available Abstract Idiopathic pulmonary fibrosis (IPF is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease which affects approximately 5 million persons worldwide. The prevalence is estimated to be slightly greater in men (20.2/100,000 than in women (13.2/100,000. The mean age at presentation is 66 years. IPF initially manifests with symptoms of exercise-induced breathless and dry coughing. Auscultation of the lungs reveals early inspiratory crackles, predominantly located in the lower posterior lung zones upon physical exam. Clubbing is found in approximately 50% of IPF patients. Cor pulmonale develops in association with end-stage disease. In that case, classic signs of right heart failure may be present. Etiology remains incompletely understood. Some environmental factors may be associated with IPF (cigarette smoking, exposure to silica and livestock. IPF is recognized on high-resolution computed tomography by peripheral, subpleural lower lobe reticular opacities in association with subpleural honeycomb changes. IPF is associated with a pathological lesion known as usual interstitial pneumonia (UIP. The UIP pattern consists of normal lung alternating with patches of dense fibrosis, taking the form of collagen sheets. The diagnosis of IPF requires correlation of the clinical setting with radiographic images and a lung biopsy. In the absence of lung biopsy, the diagnosis of IPF can be made by defined clinical criteria that were published in guidelines endorsed by several professional societies. Differential diagnosis includes other idiopathic interstitial pneumonia, connective tissue diseases (systemic sclerosis, polymyositis, rheumatoid arthritis, forme fruste of autoimmune disorders, chronic hypersensitivity pneumonitis and other environmental (sometimes occupational exposures. IPF is typically progressive and leads to significant

  17. Phase II drugs currently being investigated for the treatment of hypogonadism.

    Science.gov (United States)

    Udedibia, Emeka; Kaminetsky, Jed

    2014-12-01

    Hypogonadism is the most common endocrine disorder, which affects men of all age groups. Recent shifts in public awareness, increased screening and recognition of symptoms and updated diagnostic criteria have led to an increase in men diagnosed as hypogonadal, including middle-aged and older men who previously would have been considered eugonadal. The increase in testosterone replacement therapy (TRT) has paralleled an increase in advancements of treatment options. Although current therapies are highly efficacious for many men, there remains a need for newer therapies that are more cost-effective, preserve ease of use and administration, mitigate undesirable effects and closely mimic physiological levels of testosterone. In this review, the authors discuss current TRTs and therapies in development for the treatment of hypogonadism. The focus is on therapies under Phase II investigation or those who have recently completed Phase II study. With several new therapies in development, the authors expect advancements in achieving treatment benchmarks that meet the needs of the individual symptomatic hypogonadal male. Increased public awareness of hypogonadism and TRT has led to a welcomed expansion in the choice of TRT options. These include new delivery systems, formulations, routes of administration and non-testosterone modalities.

  18. A practical guide to male hypogonadism in the primary care setting

    Science.gov (United States)

    Dandona, P; Rosenberg, M T

    2010-01-01

    There is a high prevalence of hypogonadism in the older adult male population and the proportion of older men in the population is projected to rise in the future. As hypogonadism increases with age and is significantly associated with various comorbidities such as obesity, type 2 diabetes, hypertension, osteoporosis and metabolic syndrome, the physician is increasingly likely to have to treat hypogonadism in the clinic. The main symptoms of hypogonadism are reduced libido/erectile dysfunction, reduced muscle mass and strength, increased adiposity, osteoporosis/low bone mass, depressed mood and fatigue. Diagnosis of the condition requires the presence of low serum testosterone levels and the presence of hypogonadal symptoms. There are a number of formulations available for testosterone therapy including intramuscular injections, transdermal patches, transdermal gels, buccal patches and subcutaneous pellets. These are efficacious in establishing eugonadal testosterone levels in the blood and relieving symptoms. Restoration of testosterone levels to the normal range improves libido, sexual function, and mood; reduces fat body mass; increases lean body mass; and improves bone mineral density. Testosterone treatment is contraindicated in subjects with prostate cancer or benign prostate hyperplasia and risks of treatment are perceived to be high by many physicians. These risks, however, are often exaggerated and should not outweigh the benefits of testosterone treatment. PMID:20518947

  19. Spreading the Clinical Window for Diagnosing Fetal-Onset Hypogonadism in Boys

    Science.gov (United States)

    Grinspon, Romina P.; Loreti, Nazareth; Braslavsky, Débora; Valeri, Clara; Schteingart, Helena; Ballerini, María Gabriela; Bedecarrás, Patricia; Ambao, Verónica; Gottlieb, Silvia; Ropelato, María Gabriela; Bergadá, Ignacio; Campo, Stella M.; Rey, Rodolfo A.

    2014-01-01

    In early fetal development, the testis secretes – independent of pituitary gonadotropins – androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic–pituitary axis gains control of testicular hormone secretion. Follicle-stimulating hormone (FSH) controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas luteinizing hormone (LH) regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset, whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic–pituitary–gonadal axis in male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3–6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic–pituitary–testicular axis in boys suspected of fetal-onset hypogonadism. PMID:24847309

  20. Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys

    Directory of Open Access Journals (Sweden)

    Rodolfo eRey

    2014-05-01

    Full Text Available In early fetal development, the testis secretes –independently of pituitary gonadotropins– androgens and anti-Müllerian hormone (AMH which are essential for male sex differentiation. In the second half of fetal life, the hypothalamic-pituitary axis gains control of testicular hormone secretion. FSH controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas LH regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic-pituitary-gonadal axis in the male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3-6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic-pituitary-testicular axis in boys suspected of fetal-onset hypogonadism.

  1. Hypogonadism in a male-to-female transsexual with super obesity.

    Science.gov (United States)

    Ayanian, S; Irwig, M S

    2013-08-01

    The global obesity epidemic is having a profound impact on the health of populations. From a reproductive standpoint, obesity has been associated with infertility and hypogonadism. We present the case of a 29-year-old male-to-female transsexual with super obesity (body mass index >50) who was found to have profound hypogonadism with total and free testosterone levels in the normal female reference range. There is virtually no literature on the hormonal sequelae of obesity in transsexual people. The patient was prescribed an aromatase inhibitor, letrozole 2.5 mg twice daily for 2 weeks, to determine the role of oestrogen in the hypogonadism. The aromatase inhibitor reduced the serum oestradiol concentration from 125 to 6.9 pm. There were dramatic corresponding rises in total testosterone (2.8 to 10.7 nm), luteinising hormone (4.1 to 20.5 mIU ml(-1) ) and follicle stimulating hormone (1.8 to 15.3 mIU ml(-1) ). This diagnostic test demonstrated the important role of oestrogen in mediating the hypogonadism. After the testing, the patient was started on oestrogen therapy after a careful discussion of the benefits versus risks of oestrogen therapy. We anticipate that similar cases of hypogonadism in male-to-female transsexuals will likely become more common in an era of increased obesity rates. © 2012 Blackwell Verlag GmbH.

  2. Varicocele is associated with hypogonadism and impaired erectile function: a prospective comparative study.

    Science.gov (United States)

    Ji, B; Jin, X-B

    2017-08-01

    We conducted this prospective comparative study to examine the hypothesis that varicocele was associated with hypogonadism and impaired erectile function as reflected in International Index of Erectile Function-5 (IIEF-5) scores as well as nocturnal penile tumescence and rigidity (NPTR) parameters. From December 2014 to December 2015, a total of 130 males with varicocele complaining of infertility or scrotal discomfort and 130 age-matched healthy males chosen from volunteer healthy hospital staff as controls were recruited in this study. Serum testosterone (TT) levels and IIEF-5 scores as well as NPTR parameters were evaluated and compared between varicocele and control subjects. All participants were further grouped into hypogonadism based on the cut-off value 300 ng/dL. A total of 45 of 130 patients were identified as hypogonadism, while it was not found in control subjects. A multivariate logistic regression with likelihood ratio test revealed that TT levels as well as grade III and II varicocele posed significant indicators for hypogonadism occurrence (chi-square of likelihood ratio = 12.40, df = 3, p hypogonadism was confirmed in this study and an impaired erectile function correlated with TT levels and infertility duration was also observed. © 2016 Blackwell Verlag GmbH.

  3. Drug therapy for chronic idiopathic axonal polyneuropathy

    NARCIS (Netherlands)

    Vrancken, A. F. J. E.; van Schaik, I. N.; Hughes, R. A. C.; Notermans, N. C.

    2004-01-01

    BACKGROUND: Chronic idiopathic axonal polyneuropathy is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, it reduces quality of life. OBJECTIVES: To assess whether drug therapy for chronic idiopathic

  4. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-04-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  5. Treatment of hypogonadotropic male hypogonadism: Case-based scenarios

    Science.gov (United States)

    Crosnoe-Shipley, Lindsey E; Elkelany, Osama O; Rahnema, Cyrus D; Kim, Edward D

    2015-01-01

    The aim of this study is to review four case-based scenarios regarding the treatment of symptomatic hypogonadism in men. The article is designed as a review of published literature. We conducted a PubMed literature search for the time period of 1989-2014, concentrating on 26 studies investigating the efficacy of various therapeutic options on semen analysis, pregnancy outcomes, time to recovery of spermatogenesis, as well as serum and intratesticular testosterone levels. Our results demonstrated that exogenous testosterone suppresses intratesticular testosterone production, which is an absolute prerequisite for normal spermatogenesis. Cessation of exogenous testosterone should be recommended for men desiring to maintain their fertility. Therapies that protect the testis involve human chorionic gonadotropin (hCG) therapy or selective estrogen receptor modulators (SERMs), but may also include low dose hCG with exogenous testosterone. Off-label use of SERMs, such as clomiphene citrate, are effective for maintaining testosterone production long-term and offer the convenience of representing a safe, oral therapy. At present, routine use of aromatase inhibitors is not recommended based on a lack of long-term data. We concluded that exogenous testosterone supplementation decreases sperm production. It was determined that clomiphene citrate is a safe and effective therapy for men who desire to maintain fertility. Although less frequently used in the general population, hCG therapy with or without testosterone supplementation represents an alternative treatment. PMID:25949938

  6. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-01-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  7. Hypogonadism and erectile dysfunction associated with soy product consumption.

    Science.gov (United States)

    Siepmann, Timo; Roofeh, Joseph; Kiefer, Florian W; Edelson, David G

    2011-01-01

    Previous research has focused on the beneficial effects of soy and its active ingredients, isoflavones. For instance, soy consumption has been associated with lower cardiovascular and breast cancer risks. However, the number of reports demonstrating adverse effects of isoflavones due to their estrogenlike properties has increased. We present the case of a 19-y-old type 1 diabetic but otherwise healthy man with sudden onset of loss of libido and erectile dysfunction after the ingestion of large quantities of soy-based products in a vegan-style diet. Blood levels of free and total testosterone and dehydroepiandrosterone (DHEA) were taken at the initial presentation for examination and continuously monitored up to 2 y after discontinuation of the vegan diet. Blood concentrations of free and total testosterone were initially decreased, whereas DHEA was increased. These parameters normalized within 1 y after cessation of the vegan diet. Normalization of testosterone and DHEA levels was paralleled by a constant improvement of symptoms; full sexual function was regained 1 y after cessation of the vegan diet. This case indicates that soy product consumption is related to hypogonadism and erectile dysfunction. To the best of our knowledge, this is the first report of a combination of decreased free testosterone and increased DHEA blood concentrations after consuming a soy-rich diet. Hence, this case emphasizes the impact of isoflavones in the regulation of sex hormones and associated physical alterations. Copyright © 2011 Elsevier Inc. All rights reserved.

  8. Thyrotoxicosis presenting as hypogonadism: a case of central hyperthyroidism.

    Science.gov (United States)

    Childress, R Dale; Qureshi, M Nauman; Kasparova, Meri; Oktaei, Hooman; Williams-Cleaves, Beverly; Solomon, Solomon S

    2004-11-01

    Herein, we present a case of central thyrotoxicosis with well-documented serial therapeutic interventions. Thyroid-stimulating hormone (TSH)-secreting pituitary tumors represent a rare cause of hyperthyroidism. It is being diagnosed more frequently with the third-generation TSH assay. Many conditions can produce normal or elevated TSH levels in combination with elevated thyroid hormone levels. The differential diagnosis includes resistance to thyroid hormone (RTH, Refetoff's syndrome), assay interference from anti-T4/T3 and heterophile antibodies, elevated or altered binding proteins, drugs affecting peripheral metabolism, and noncompliance with thyroid replacement therapy. In contrast to RTH, our patient presented had high alpha-subunit-to-TSH molar ratio, failed TSH response to thyrotropin-releasing hormone stimulation, and a large pituitary mass. Normal or high TSH in the presence of elevated T4 or T3 is a fairly common clinical scenario with many etiologic possibilities. This TSH-producing adenoma represents an unusual initial clinical presentation, as hypogonadism appeared before features of thyrotoxicosis were appreciated. This case represents the most modern therapeutic approach to the management of this rare disease. Our patient has done well on octreotide with control of thyrotoxicosis and an additional 30% shrinkage of his tumor mass.

  9. Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.

    Science.gov (United States)

    Xu, C; Lang-Muritano, M; Phan-Hug, F; Dwyer, A A; Sykiotis, G P; Cassatella, D; Acierno, J; Mohammadi, M; Pitteloud, N

    2017-08-01

    Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by gonadotropin-releasing hormone deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Hormonal testing at age 2.5 months showed low testosterone (0.3 nmol/L) and undetectable gonadotropins (luteinizing hormone and follicle-stimulating hormone both <0.5 U/L), suggestive of CHH. Genetic testing identified a de novo, heterozygous mutation in fibroblast growth factor receptor 1 (FGFR1 p.L630P). L630 resides on the ATP binding cleft of the FGFR1 tyrosine kinase domain, and L630P is predicted to cause a complete loss of receptor function. Cell-based assays confirmed that L630P abolishes FGF8 signaling activity. Identification of a loss-of-function de novo FGFR1 mutation in this patient confirms the diagnosis of CHH, allowing for a timely hormonal treatment to induce pubertal development. Therefore, genetic testing can complement clinical and hormonal assessment for a timely diagnosis of CHH in childhood. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Bilateral male breast cancer with male potential hypogonadism

    Directory of Open Access Journals (Sweden)

    Kurokawa Yasushi

    2007-06-01

    Full Text Available Abstract Background Male breast cancer is a comparatively rare disease, and simultaneous bilateral male breast cancer is considered to be an extremely rare event. Risk factors are said to be genetic factors and hormonal abnormalities due to obesity or testicular diseases. Case presentation The patient was a 47-year-old Japanese male. His family had no history of female breast cancer. This patient also had hypospadias and hormonal examination indicated the presence of primary testicular potential hypogonadism, and these hormonal abnormalities seemed to be present since childhood or the fetal period. The bilateral breast cancer developed in this man at a comparatively young age, and histopathological studies of multiple sections showed that there was almost no normal epithelial cell in the ducts, while the ducts were almost completely filled with breast cancer cells. Conclusion It is thought that male breast cancer is caused by an imbalance between estrogen and testosterone. We cannot rule out the possibility that the breast cancer developed due to the effect of the slight elevation of estrogen over a long period of time, but the actual causative factors in this patient were unable to be definitively identified. In the future, we hope to further elucidate the causes of male breast cancer.

  11. CAG repeat testing of androgen receptor polymorphism: is this necessary for the best clinical management of hypogonadism?

    Science.gov (United States)

    Francomano, Davide; Greco, Emanuela A; Lenzi, Andrea; Aversa, Antonio

    2013-10-01

    It is controversial whether or not testing the length of the androgen receptor polymorphism in clinical practice is useful for correct diagnosis and treatment of hypogonadism. To describe the molecular and clinical implications of testing the length of the androgen receptor polymorphism for treatment of hypogonadism in both male and female subjects. A systematic Medline search was conducted using several terms related to and including the terms "androgen receptor," "CAG-repeat polymorphism," "male hypogonadism," "female hypogonadism," and "neurodegenerative disease." Clinical evidence that demonstrates the importance of CAG repeat number investigation in male and female hypogonadism. A thorough review of the clinical utility of CAG repeat polymorphism investigation in men and women with hypogonadism is presented. The role of AR CAG repeat number investigation in hypogonadism (male and female) is not yet established in the clinical practice. In both sexes, a role during clinical management of hormonal replacement therapies may be hypothesized, but the CAG repeat number's relationship with the presence or absence of hypogonadal symptoms remains unclear. Pharmacogenomic investigations of the AR polymorphism may be a future option to tailor testosterone titration individually and to better identify subjects as potentially more or less responsive to treatments; also, investigation may be important to individually predict beneficial and side effects in special subpopulations, specifically, obese men and postmenopausal women. © 2013 International Society for Sexual Medicine.

  12. Idiopathic inflammatory myositis.

    Science.gov (United States)

    Tieu, Joanna; Lundberg, Ingrid E; Limaye, Vidya

    2016-02-01

    Knowledge on idiopathic inflammatory myopathy (IIM) has evolved with the identification of myositis-associated and myositis-specific antibodies, development of histopathological classification and the recognition of how these correlate with clinical phenotype and response to therapy. In this paper, we outline key advances in diagnosis and histopathology, including the more recent identification of antibodies associated with immune-mediated necrotising myopathy (IMNM) and inclusion body myositis (IBM). Ongoing longitudinal observational cohorts allow further classification of these patients with IIM, their predicted clinical course and response to specific therapies. Registries have been developed worldwide for this purpose. A challenging aspect in IIM, a multisystem disease with multiple clinical subtypes, has been defining disease status and clinically relevant improvement. Tools for assessing activity and damage are now recognised to be important in determining disease activity and guiding therapeutic decision-making. The International Myositis Assessment and Clinical Studies (IMACS) group has developed such tools for use in research and clinical settings. There is limited evidence for specific treatment strategies in IIM. With significant development in the understanding of IIM and improved classification, longitudinal observational cohorts and trials using validated outcome measures are necessary, to provide important information for evidence-based care in the clinical setting. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  13. Idiopathic (primary achalasia

    Directory of Open Access Journals (Sweden)

    Vaezi Michael F

    2007-09-01

    Full Text Available Abstract Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES relaxation in response to deglutition. It is a rare disease with an annual incidence of approximately 1/100,000 and a prevalence rate of 1/10,000. The disease can occur at any age, with a similar rate in men and women, but is usually diagnosed between 25 and 60 years. It is characterized predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. Weight loss (usually between 5 to 10 kg is present in most but not in all patients. Heartburn occurs in 27%–42% of achalasia patients. Etiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. The diagnosis is based on history of the disease, radiography (barium esophagogram, and esophageal motility testing (esophageal manometry. Endoscopic examination is important to rule out malignancy as the cause of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents aimed at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Although it cannot be permanently cured, excellent palliation is available in over 90% of patients.

  14. Idiopathic (primary) achalasia

    Science.gov (United States)

    Farrokhi, Farnoosh; Vaezi, Michael F

    2007-01-01

    Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease with an annual incidence of approximately 1/100,000 and a prevalence rate of 1/10,000. The disease can occur at any age, with a similar rate in men and women, but is usually diagnosed between 25 and 60 years. It is characterized predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. Weight loss (usually between 5 to 10 kg) is present in most but not in all patients. Heartburn occurs in 27%–42% of achalasia patients. Etiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. The diagnosis is based on history of the disease, radiography (barium esophagogram), and esophageal motility testing (esophageal manometry). Endoscopic examination is important to rule out malignancy as the cause of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aimed at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Although it cannot be permanently cured, excellent palliation is available in over 90% of patients. PMID:17894899

  15. Idiopathic Retroperitoneal Hematoma

    Directory of Open Access Journals (Sweden)

    Tomoyuki Abe

    2010-09-01

    Full Text Available A 34-year-old female presented with sudden onset of severe abdominal pain in a flank distribution. A large mass was palpable in the right upper quadrant on physical examination. Abdominal contrast-enhanced computed tomography showed a well-defined, right-sided, retroperitoneal cystic lesion located between the abdominal aorta and the inferior vena cava (IVC. The tumor size was 55 × 58 mm, and it compressed the gallbladder and the duodenum. Upper gastrointestinal radiography revealed a stricture of the second portion of the duodenum by the tumor. T2-weighted magnetic resonance imaging showed that the whole part was hyperintense with hypointense rims, but the inner was partially hypointense. Based on the radiological findings, the preoperative differential diagnosis included retroperitoneal teratoma, Schwannoma, abscess, and primary retroperitoneal tumor. On laparotomy, the tumor was located in the right retroperitoneal cavity. Kocher maneuver and medial visceral rotation, which consists of medial reflection of the upper part of right colon and duodenum by incising their lateral peritoneal attachments, were performed. Although a slight adhesion to the IVC was detected, the tumor was removed safely. Thin-section histopathology examination detected neither tumor tissues nor any tissues such as adrenal gland, ovarian tissue, or endometrial implants. The final pathological diagnosis was idiopathic retroperitoneal hematoma; the origin of the bleeding was unclear. The patient was discharged without any complication 5 days after the operation.

  16. Hypogonadism as a new comorbidity in male patient's selection for bariatric surgery: towards an extended concept of metabolic surgery?

    Science.gov (United States)

    Lucchese, M; Maggi, M

    2013-12-01

    Hypogonadism and subfertility can be frequently associated to obesity. These endocrine alterations may have consequences in the health and quality of life of obese men since they may result in impaired fertility and poor sexual life. As many clinical reports suggest, weight loss can ameliorate hypogonadism and, more generally, alterations in sex hormones. This effect is evident even when weight loss is induced by bariatric surgery. The evidence that hypogonadism in morbidly obese patients can regress after bariatric surgery should lead us to consider it as a modifiable comorbidity associated to obesity. This would have as a consequence that obese male patients with symptomatic hypogonadism could be candidates for bariatric surgery even with a BMI hypogonadal males, should be encouraged.

  17. Early postnatal treatment of hypogonadotropic hypogonadism with recombinant human FSH and LH

    DEFF Research Database (Denmark)

    Main, Katharina M; Schmidt, Ida M; Toppari, Jorma

    2002-01-01

    BACKGROUND: Patients with hypogonadotropic hypogonadism may be diagnosed shortly after birth because of micropenis and cryptorchidism, combined with subnormal LH and FSH concentrations during the postnatal period. OBJECTIVE: To investigate whether treating these patients with gonadotropins postna...... observed. CONCLUSIONS: Gonadotropin treatment in an infant with hypogonadotropic hypogonadism succeeded in inducing an increase in inhibin B and testicular growth.......BACKGROUND: Patients with hypogonadotropic hypogonadism may be diagnosed shortly after birth because of micropenis and cryptorchidism, combined with subnormal LH and FSH concentrations during the postnatal period. OBJECTIVE: To investigate whether treating these patients with gonadotropins...... the normal range (0.05-0.17 IU/l and 79-112 pg/ml respectively). METHODS: From 7.9 to 13.7 months of age, the patient was treated with recombinant human LH and FSH in doses of 20 and 21.3 IU s.c. twice weekly respectively. RESULTS: During treatment concentrations of LH, FSH, inhibin B and estradiol increased...

  18. Aetiology of idiopathic granulomatous mastitis.

    Science.gov (United States)

    Altintoprak, Fatih; Kivilcim, Taner; Ozkan, Orhan Veli

    2014-12-16

    Idiopathic granulomatous mastitis is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The most common clinical presentation is an unilateral, discrete breast mass, nipple retraction and even a sinus formation often associated with an inflammation of the overlying skin. The etiology of idiopathic granulomatous mastitis is still obscure. Its treatment remains controversial. The cause may be the autoimmune process, infection, a chemical reaction associated with oral contraceptive pills, or even lactation. Various factors, including hormonal imbalance, autoimmunity, unknown microbiological agents, smoking and α 1-antitrypsin deficiency have been suggested to play a role in disease aetiology. In this review, causing factors in the aetiology of idiopathic granulomatous mastitis are reviewed in detail.

  19. Switch to restoration therapy in a testosterone treated central hypogonadism with erythrocytosis.

    Science.gov (United States)

    Cangiano, B; Cacciatore, C; Persani, L; Bonomi, M

    2017-01-01

    We describe a case of severe erythrocytosis caused by testosterone replacement therapy in a 66-year-old man affected with hypogonadotropic hypogonadism (HH) determining osteoporosis, resolved by switching to restoration therapy with clomiphene citrate. The patient complained fatigue, loss of libido and defective erections and a spontaneous vertebral fracture despite bisphosphonate therapy and vitamin D supplementation. The examinations proved isolated HH and he was therefore treated with testosterone gel with regression of specific manifestations but elevated hemoglobin and hematocrit values. Therefore, it was decided to switch to a restoration therapy with clomiphene citrate 25 mg/die, which resulted in the resolution of symptoms without evident side effects. In a couple of months, the patient showed normalization of testosterone levels and increment of testicular volume. Since secondary hypogonadism is the consequence of an insufficient stimulation of the gonads by hypothalamic-pituitary axis, therapeutic approaches aimed to restore endogenous testosterone production should be considered in alternative to testosterone replacement, particularly if side effects intervene. Among these strategies, clomiphene citrate seems to have a high efficacy and safety profile also in the elderly with isolated HH and no evident pituitary lesion. Hypogonadism should always be assessed in patients with severe loss in BMD and undergo appropriate medical treatment.In hypogonadotropic hypogonadism, more approaches are available other than testosterone replacement therapy alone.In patients with severe late-onset central hypogonadism presenting with erythrocytosis even at low doses of replacement therapy, restoration therapy with clomiphene could prove to be an effective solution, particularly in patients with a reversible disruption of GNRH/gonadotropin functions.Clomiphene citrate increases gonadotropin levels and testicular volume and should therefore be considered in hypogonadal

  20. Syphilis mimicking idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne; Wegener, Marianne; Jensen, Rigmor

    2011-01-01

    Idiopathic intracranial hypertension (IIH) is a condition of yet unknown aetiology affecting predominantly obese females of childbearing age. IIH is a diagnosis of exclusion as raised cerebrospinal fluid pressure may occur secondary to numerous other medical conditions. An atypical phenotype...... or an atypical disease course should alert the physician to reevaluate a presumed IIH-diagnosis. The authors report a case of a 32-year-old non-obese male with intracranial hypertension, secondary to a syphilitic central nervous system infection, initially misdiagnosed as being idiopathic. Upon relevant...

  1. Remission of type 2 diabetes in a hypogonadal man under long-term testosterone therapy

    Directory of Open Access Journals (Sweden)

    Ahmad Haider

    2017-09-01

    Full Text Available In daily practice, clinicians are often confronted with obese type 2 diabetes mellitus (T2DM patients for whom the treatment plan fails and who show an inadequate glycemic control and/or no sustainable weight loss. Untreated hypogonadism can be the reason for such treatment failure. This case describes the profound impact testosterone therapy can have on a male hypogonadal patient with metabolic syndrome, resulting in a substantial and sustained loss of body weight, pronounced improvement of all critical laboratory values and finally complete remission of diabetes.

  2. Pharmacologic Therapy in Men's Health: Hypogonadism, Erectile Dysfunction, and Benign Prostatic Hyperplasia.

    Science.gov (United States)

    Berkseth, Kathryn E; Thirumalai, Arthi; Amory, John K

    2016-07-01

    This article reviews current pharmacologic treatment options for 3 common men's health concerns: hypogonadism, erectile dysfunction (ED), and benign prostatic hyperplasia (BPH). Specific topics addressed include: management of male hypogonadism using testosterone replacement therapy, use of oral phosphodiesterase inhibitors as first-line therapy for men with ED and the utility of intraurethral and intrapenile alprostadil injections for patients who do not respond to oral medications, and the role of alpha1-adrenergic antagonists, 5-alpha-reductase inhibitors, anticholinergic agents, and herbal therapies in the management of BPH. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

    Directory of Open Access Journals (Sweden)

    Prasad Katulanda

    2012-01-01

    Full Text Available 48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

  4. The strange case of a patient affected by acromegaly with osteoporomalacia without hypogonadism

    Directory of Open Access Journals (Sweden)

    S. Caprio

    2011-09-01

    Full Text Available Acromegaly is a rare disease that, in the majority of cases, is due to the presence of a benign growth hormone (GH- producing tumor of the pituitary. Growth hormone has profound effects on linear bone growth, bone metabolism, and bone mass. In acromegaly, the skeletal effects of chronic GH excess have been mainly addressed by evaluating bone mineral density (BMD. Most data were obtained in patients with active acromegaly, and apparently high or normal BMD was observed in the absence of hypogonadism. The Autors describe a case of patient affected by acromegaly without hypogonadism with serious osteoporosis and biological signs of osteomalacia.

  5. Occurrence of testicular microlithiasis in androgen insensitive hypogonadal mice

    Directory of Open Access Journals (Sweden)

    De Gendt Karl

    2009-08-01

    Full Text Available Abstract Background Testicular microliths are calcifications found within the seminiferous tubules. In humans, testicular microlithiasis (TM has an unknown etiology but may be significantly associated with testicular germ cell tumors. Factors inducing microlith development may also, therefore, act as susceptibility factors for malignant testicular conditions. Studies to identify the mechanisms of microlith development have been hampered by the lack of suitable animal models for TM. Methods This was an observational study of the testicular phenotype of different mouse models. The mouse models were: cryptorchid mice, mice lacking androgen receptors (ARs on the Sertoli cells (SCARKO, mice with a ubiquitous loss of androgen ARs (ARKO, hypogonadal (hpg mice which lack circulating gonadotrophins, and hpg mice crossed with SCARKO (hpg.SCARKO and ARKO (hpg.ARKO mice. Results Microscopic TM was seen in 94% of hpg.ARKO mice (n = 16 and the mean number of microliths per testis was 81 +/- 54. Occasional small microliths were seen in 36% (n = 11 of hpg testes (mean 2 +/- 0.5 per testis and 30% (n = 10 of hpg.SCARKO testes (mean 8 +/- 6 per testis. No microliths were seen in cryptorchid, ARKO or SCARKO mice. There was no significant effect of FSH or androgen on TM in hpg.ARKO mice. Conclusion We have identified a mouse model of TM and show that lack of endocrine stimulation is a cause of TM. Importantly, this model will provide a means with which to identify the mechanisms of TM development and the underlying changes in protein and gene expression.

  6. Testosterone depot injection in male hypogonadism: a critical appraisal

    Directory of Open Access Journals (Sweden)

    Aksam A Yassin

    2008-01-01

    Full Text Available Aksam A Yassin1, Mohamed Haffejee21Clinic of Urology/Andrology, Segeberger Kliniken, Norderstedt-Hamburg, Germany and Department of Urology, Gulf Medical College School of Medicine, Ajman-UAE 2Urology Division at the University of Witwaterstrand & Johannesburg Hospital, Johannesburg, South AfricaAbstract: Testosterone compounds have been available for almost 70 years, but the pharmaceutical formulations have been less than ideal. Traditionally, injectable testosterone esters have been used for treatment, but they generate supranormal testosterone levels shortly after the 2- to 3-weekly injection interval and then testosterone levels decline very rapidly, becoming subnormal in the days before the next injection. The rapid fluctuations in plasma testosterone are subjectively experienced as disagreeable. Testosterone undecanoate is a new injectable testosterone preparation with a considerably better pharmacokinetic profile. After 2 initial injections with a 6-week interval, the following intervals between two injections are almost always 12-weeks, amounting eventually to a total of 4 injections per year. Plasma testosterone levels with this preparation are nearly always in the range of normal men, so are its metabolic products estradiol and dihydrotestosterone. The “roller coaster” effects of traditional parenteral testosterone injections are not apparent. It reverses the effects of hypogonadism on bone and muscle and metabolic parameters and on sexual functions. Its safety profile is excellent due to the continuous normalcy of plasma testosterone levels. No polycythemia has been observed, and no adverse effects on lipid profiles. Prostate safety parameters are well within reference limits. There was no impairment of uroflow. Testosterone undecanoate is a valuable contribution to the treatment options of androgen deficiency.Keywords: testosterone treatment, testosterone undecanoate, pharmacokinetic profile, clinical efficacy, side effects

  7. Idiopathic epileptic syndromes and cognition.

    Science.gov (United States)

    Hommet, Caroline; Sauerwein, Hannelore C; De Toffol, Bertrand; Lassonde, Maryse

    2006-01-01

    Epilepsy is frequently associated with cognitive impairments which result from various interacting factors. The present paper deals with the contribution of neuropsychology to the characterization of the type of epilepsy and the possible mechanisms underlying idiopathic epileptic syndromes. The non-lesional, so-called idiopathic epilepsies, constitute an interesting model for assessing the relationship between epileptiform EEG discharges and cognition. Among the idiopathic generalized epilepsies, disorders of social integration and personality have been frequently reported in juvenile myoclonic epilepsy (JME). Since similar disturbances are observed in frontal-lobe-lesioned patients, impairments in other frontal lobe functions (e.g. executive functions) might be expected in JME. This gives rise to speculation about the possible underlying pathophysiological mechanisms in JME. With regard to partial idiopathic epilepsies, benign childhood epilepsy with centrotemporal spikes (BCECTS) may provide a useful model for the study of the relationship between epileptiform EEG discharges in the peri-sylvian region and language functions. Furthermore, the description of mild cognitive dysfunctions in BCECTS, and their persistence into adulthood, can provide information about compensatory mechanisms and may allow for the generation of remedial strategies. Thus, 'lesional' neuropsychology has given way to 'dynamic' neuropsychology based on specific postulates. By using the cognitive profile to specify the mechanism underlying the behavioral disturbances observed in different types of epilepsy, neuropsychology may eventually contribute to a revision of the present classification of epileptic syndromes. In addition, the neuropsychological data may help predict the extent and limits of functional recovery and cerebral plasticity.

  8. Antioxidant therapy in idiopathic oligoasthenoteratozoospermia

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    Ahmad Majzoub

    2017-01-01

    Conclusion: Additional randomized controlled studies are required to confirm the efficacy and safety of antioxidant supplementation in the medical treatment of idiopathic male infertility as well as the dosage required to improve semen parameters, fertilization rates, and pregnancy outcomes in iOAT.

  9. Guidelines for the diagnosis and treatment of testosterone deficiency (hypogonadism in male patients with diabetes mellitus (Draft

    Directory of Open Access Journals (Sweden)

    Galina Afanas'evna Melnichenko

    2017-06-01

    Full Text Available Hypogonadism in male patients is defined as a decrease in the serum testosterone level; it is associated with specific symptoms and/or signs (see the detailed description below. It is a common complication in diabetes mellitus. The guidelines do not review all disorders leading to the development of hypogonadism but focus on options for the treatment of hypogonadism, which is generally observed in male patients with diabetes. In the literature, data on the prevalence of hypogonadism in patients with diabetes are available. In the section on diagnostics, the medical history of patients with hypogonadism and diabetes, including the necessary methods for physical and laboratory inspection. Risk factors for and the clinical consequences of hypogonadism are separately considered. In the section on treatment options, variations in treatment using various androgenic therapeutic agents based on patients’ requirements, conservation of their reproductive function, and their risk factors are provided. Special attention is given to indications of, contraindications of and risk factors for androgenic therapy in male patients with diabetes, particularly those in their advanced age. The principles of the clinical monitoring are developed. The favourable effects of androgenic therapy for hypogonadism in male patients with diabetes are shown.

  10. Wasting syndrome with deep bradycardia as presenting manifestation of long-standing severe male hypogonadotropic hypogonadism: a case series.

    Science.gov (United States)

    Passeri, Elena; Bonomi, Marco; Dangelo, Francesco; Persani, Luca; Corbetta, Sabrina

    2014-09-27

    Physiological functioning of the testes is important for cardiac health besides for virilisation, physical strength, behavior and reproduction; moreover, hypogonadism has been demonstrated as a significant risk marker of increased all-cause and cardiovascular mortality. We reported two cases of long-standing hypogonadotropic hypogonadism presenting with wasting, bradycardia and heart failure. The two patients were admitted to emergency department for deep weakness, unresponsive anemia and severe bradycardia, requiring in one case the implanting of a monocameral pace-maker for treatment of heart failure. No previous cardiologic disorders were known and cardiac ischemia was ruled out in both patients. The first patient presented congenital hypogonadotropic hypogonadism combined with mild central hypothyroidism and growth hormone deficiency occurred in the peripubertal age, while the second one was diagnosed with isolated adult-onset severe central hypogonadism. Testosterone deficiency was the main feature in both patients as physical examination revealed clinical stigmata of hypogonadism and testosterone replacement induced a dramatic improvement of general condition. Genetic analysis of genes involved in hypogonadotropic hypogonadism failed to identify alterations. Long-standing hypogonadism in males can be associated with life threatening body alterations including severe bradycardia and heart failure.

  11. [Idiopathic facial paralysis in children].

    Science.gov (United States)

    Achour, I; Chakroun, A; Ayedi, S; Ben Rhaiem, Z; Mnejja, M; Charfeddine, I; Hammami, B; Ghorbel, A

    2015-05-01

    Idiopathic facial palsy is the most common cause of facial nerve palsy in children. Controversy exists regarding treatment options. The objectives of this study were to review the epidemiological and clinical characteristics as well as the outcome of idiopathic facial palsy in children to suggest appropriate treatment. A retrospective study was conducted on children with a diagnosis of idiopathic facial palsy from 2007 to 2012. A total of 37 cases (13 males, 24 females) with a mean age of 13.9 years were included in this analysis. The mean duration between onset of Bell's palsy and consultation was 3 days. Of these patients, 78.3% had moderately severe (grade IV) or severe paralysis (grade V on the House and Brackmann grading). Twenty-seven patients were treated in an outpatient context, three patients were hospitalized, and seven patients were treated as outpatients and subsequently hospitalized. All patients received corticosteroids. Eight of them also received antiviral treatment. The complete recovery rate was 94.6% (35/37). The duration of complete recovery was 7.4 weeks. Children with idiopathic facial palsy have a very good prognosis. The complete recovery rate exceeds 90%. However, controversy exists regarding treatment options. High-quality studies have been conducted on adult populations. Medical treatment based on corticosteroids alone or combined with antiviral treatment is certainly effective in improving facial function outcomes in adults. In children, the recommendation for prescription of steroids and antiviral drugs based on adult treatment appears to be justified. Randomized controlled trials in the pediatric population are recommended to define a strategy for management of idiopathic facial paralysis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  12. Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.

    Science.gov (United States)

    Rubio-Cabezas, Oscar; Gómez, José Luis; Gleisner, Andrea; Hattersley, Andrew T; Codner, Ethel

    2016-10-01

    Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism.

  13. A Perspective on Middle-Aged and Older Men With Functional Hypogonadism: Focus on Holistic Management.

    Science.gov (United States)

    Grossmann, Mathis; Matsumoto, Alvin M

    2017-03-01

    Middle-aged and older men (≥50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic-pituitary-testicular axis pathology but have functional hypogonadism that is potentially reversible. Literature review from 1970 to October 2016. Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone. Also, androgen deficiency-like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. Unfortunately, lifestyle interventions remain difficult and may be insufficient even if successful. Testosterone therapy should be considered primarily for men who have significant clinical features of androgen deficiency and unequivocally low testosterone levels. Testosterone should be initiated either concomitantly with a trial of lifestyle measures, or after such a trial fails, after a tailored diagnostic work-up, exclusion of contraindications, and appropriate counseling. There is modest evidence that functional hypogonadism responds to lifestyle measures and optimization of comorbidities. If achievable, these interventions may have demonstrable health benefits beyond the potential for increasing testosterone levels. Therefore, treatment of underlying causes of functional hypogonadism and of symptoms should be used either as an initial or adjunctive approach to testosterone therapy.

  14. Endocrine Society of Australia position statement on male hypogonadism (part 2): treatment and therapeutic considerations.

    Science.gov (United States)

    Yeap, Bu B; Grossmann, Mathis; McLachlan, Robert I; Handelsman, David J; Wittert, Gary A; Conway, Ann J; Stuckey, Bronwyn Ga; Lording, Douglas W; Allan, Carolyn A; Zajac, Jeffrey D; Burger, Henry G

    2016-09-05

    Part 1 of this position statement dealt with the assessment of male hypogonadism, including the indications for testosterone therapy. This article, Part 2, focuses on treatment and therapeutic considerations for male hypogonadism and identifies key questions for future research. Key points and recommendations are:Excess cardiovascular events have been reported in some but not all studies of older men without pathological hypogonadism who were given testosterone treatment. Additional studies are needed to clarify whether testosterone therapy influences cardiovascular risk.Testosterone is the native hormone that should be replaced in men being treated for pathological hypogonadism. Convenient and cost-effective treatment modalities include depot intramuscular injection and transdermal administration (gel, cream or liquid formulations).Monitoring of testosterone therapy is recommended for efficacy and safety, focusing on ameliorating symptoms, restoring virilisation, avoiding polycythaemia and maintaining or improving bone mineral density.Treatment aims to relieve an individual's symptoms and signs of androgen deficiency by administering standard doses and maintaining circulating testosterone levels within the reference interval for eugonadal men.Evaluation for cardiovascular disease and prostate cancer risks should be undertaken as appropriate for eugonadal men of similar age. Nevertheless, when there is a reasonable possibility of substantive pre-existing prostate disease, digital rectal examination and prostate-specific antigen testing should be performed before commencing testosterone treatment.Changes in management as result of the position statement: Treatment aims to relieve symptoms and signs of androgen deficiency, using convenient and effective formulations of testosterone. Therapy should be monitored for efficacy and safety.

  15. High prevalence of hypogonadotropic hypogonadism in men referred for obesity treatment.

    NARCIS (Netherlands)

    Hofstra, J.M.; Loves, S.; Wageningen, B. van; Ruinemans-Koerts, J.; Jansen, I.; Boer, H. de

    2008-01-01

    BACKGROUND: Obesity can be associated with biochemical evidence of isolated hypogonadotropic hypogonadism (IHH) in men. Prevalence and severity of IHH in obese men are not exactly known. OBJECTIVE: To assess the prevalence of IHH in obese men. DESIGN AND SUBJECTS: Cross-sectional study of 160 obese

  16. Hypogonadism and man’s infertility at patients with indirect inguinal hernia after hernioplasty

    Directory of Open Access Journals (Sweden)

    I. S. Sobennikov

    2014-11-01

    Full Text Available The article estimates hydrologic status and fertility prognosis of 35 year-old reproductive age men with unilateral inguinal hernioplasty in past history from the system syndrome-based approach perspective to the etiology and pathogenesis of indirect inguinal hernia and hypogonadism.

  17. Hypogonadism and man’s infertility at patients with indirect inguinal hernia after hernioplasty

    Directory of Open Access Journals (Sweden)

    I. S. Sobennikov

    2012-01-01

    Full Text Available The article estimates hydrologic status and fertility prognosis of 35 year-old reproductive age men with unilateral inguinal hernioplasty in past history from the system syndrome-based approach perspective to the etiology and pathogenesis of indirect inguinal hernia and hypogonadism.

  18. The Evaluation of Fibroblast Growth Factor 23 Levels in Hypogonadotropic Hypogonadism

    Directory of Open Access Journals (Sweden)

    Hakan Demirci

    2016-01-01

    Full Text Available Aim: Our aim in this study was to investigate serum FGF-23 levels and its relationship with PTH, Ca and P in male patients with hypogonadotropic hypogonadism. Material and Method: Thirty-one male patients with hypogonadotropic hypogonadism and twenty healthy controls were enrolled in the study. The periferic venous blood samples of all the subjects involved in the study were taken for routine laboratory tests and serum testosteron, FSH, LH, PTH, P and Ca levels analysis. The serum samples were collected and stored at deep-freezer for serum FGF-23 level analysis. Results: It was observed that there was increase in serum P levels and there was decrease in PTH levels in patients with hypogonadotropic hypogonadism when compared with control group, however there was no difference in Ca and FGF-23 levels. It was determined that there were statistically significant difference between FGF-23 with P levels and PTH with Ca levels in correlation analysis. Discussion: The previous clinical studies have shown that there were bone metabolism disorders, secondary osteoporosis, changes in serum P and PTH levels in male patients with hypogonadotropic hypogonadism. In this study, we have observed that there is no correlation between all of those changes and one of the major regulators serum P, FGF-23.

  19. Occurrence, patterns & predictors of hypogonadism in patients with HIV infection in India

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2017-01-01

    Interpretation & conclusions: Hypogonadism was observed to be a significant problem in HIV-infected men and women in India, affecting 39 and 29 per cent patients, respectively. HypoH was the most common form in males whereas ovarian failure being the most common cause in females.

  20. Risk Factors for Hypogonadism in Male Patients with Type 2 Diabetes

    Science.gov (United States)

    Zheng, Rendong; Cao, Lin; Cao, Wen; Chu, Xiaoqiu; Hu, Yongxin; Zhang, Huifeng; Xu, Juan; Sun, Hongping; Bao, Weiping; Liu, Kemian; Liu, Chao

    2016-01-01

    Background. Male hypogonadism is an endocrine disease characterized by low levels of serum testosterone and is closely related to the development of diabetes. The purpose of the present study was to observe the risk factors for hypogonadism in male patients with type 2 diabetes. Methods. A total of 213 patients with type 2 diabetes were enrolled and divided into a low total testosterone (TT) group (=75) and a normal TT group (=138). The patients' blood glucose, blood lipids, serum insulin, and sex hormones were measured. The correlations between the patients' metabolic index and sex hormone levels were analyzed. Results. Compared with the normal TT group, body mass index (BMI), fasting insulin (FINS), and HOMA insulin resistance index (HOMA-IR) levels were significantly higher, but the luteinizing hormone (LH) levels were significantly lower in the low TT group (p hypogonadism. BMI, metabolic syndrome (MS), HOMA-IR, and LH are independent risk factors for hypogonadism in male patients with type 2 diabetes. PMID:27006953

  1. Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    Ken Takeshima

    2018-01-01

    Full Text Available Myotonic dystrophy type 1 (DM1 is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic–pituitary–adrenal (HPA axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis. In the present case, diabetes mellitus was characterized by severe insulin resistance with hyperinsulinemia. Glycemic control improved after modification of insulin sensitizers, such as metformin and pioglitazone. Hypogonadism was treated with testosterone replacement therapy. Notably, body composition analysis revealed increase in muscle mass and decrease in fat mass in our patient. This implies that manifestations of hypogonadism could be hidden by symptoms of myotonic dystrophy. Our patient had no symptoms associated with adrenal deficiency, so adrenal dysfunction was carefully followed up without hydrocortisone replacement therapy. In this report, we highlight the necessity for evaluation and treatment of multiple endocrinopathies in patients with DM1.

  2. Diabetes Mellitus-Associated Functional Hypercortisolism Impairs Sexual Function in Male Late-Onset Hypogonadism.

    Science.gov (United States)

    Tirabassi, G; Corona, G; Lamonica, G R; Lenzi, A; Maggi, M; Balercia, G

    2016-01-01

    Functional hypercortisolism is generated by conditions able to chronically activate hypothalamic-pituitary-adrenal axis and has been proven to have a negative role in several complications. However, no study has evaluated the possible influence of diabetes mellitus-associated functional hypercortisolism on male hypogonadism and sexual function. We aimed to identify any association of hypothalamic-pituitary-adrenal axis dysregulation measures with testosterone and sexual function in men simultaneously affected by diabetes mellitus and late-onset hypogonadism. Fifteen diabetes mellitus and late-onset hypogonadism subjects suffering from functional hypercortisolism and fifteen diabetes mellitus and late-onset hypogonadism subjects who were free of functional hypercortisolism were retrospectively reviewed. Clinical, hormonal, and sexual parameters were considered. Hypercortisolemic subjects showed higher values of body mass index, waist, and glycated hemoglobin and lower ones of testosterone compared to normocortisolemic ones. All sexual parameters, except for orgasmic function, were significantly worse in hypercortisolemic than in normocortisolemic subjects. Hypercortisolemic patients showed higher values of cortisol after dexamethasone and urinary free cortisol as well as a lesser ACTH response after corticotropin releasing hormone test (ACTH area under curve) compared to normocortisolemic ones. No significant association was found at Poisson regression analysis between hormonal and sexual variables in normocortisolemic patients. In hypercortisolemic subjects, negative and significant associations of cortisol response after corticotropin releasing hormone (cortisol area under curve) with erectile function (β: -0.0008; p: 0.015) and total international index of erectile function score (β: -0.0006; p: 0.001) were evident. This study suggests for the first time the impairing influence of the dysregulated hypothalamic-pituitary-adrenal axis on sexual function in

  3. Correlates and prevalence of hypogonadism in patients with early- and late-onset type 2 diabetes.

    Science.gov (United States)

    Li, Y; Zhang, M; Liu, X; Cui, W; Rampersad, S; Li, F; Lin, Z; Yang, P; Li, H; Sheng, C; Cheng, X; Qu, S

    2017-07-01

    This study aims to compare the prevalence of hypogonadism between male patients with early-onset type 2 diabetes mellitus (T2DM) and late-onset type 2 diabetes. A total of 122 male patients with early-onset T2DM (diagnosis age ≤40 years) and 100 male patients with late-onset T2DM (diagnosis age >40 years) were recruited from our in-patient department between 1 January 2013 and 28 December 2015. Serum FSH, LH, testosterone, lipid profile, uric acid, HbA1c, and beta-cell function were determined in blood samples. The diagnosis of hypogonadism was based on the levels of LH, FSH, and total testosterone. The mean onset age was 29.86 ± 6.31 and 54.47 ± 9.97 years old in the early-onset group and late-onset group, respectively. Compared with late-onset T2DM, those with early-onset T2DM had a higher proportion of new-onset diabetes, were more likely to be obese, and had worse glycemic control, lipid control, and lower sex hormone-binding globulin (SHBG). The prevalence of hypogonadism was much higher in the early-onset group than in the late-onset group (48.0% vs. 26.7%, p hypogonadism in the early-onset group and late-onset group were 44.3% and 25.0%, respectively (p hypogonadism was higher in the patients with early-onset T2DM than that of late-onset T2DM. This prevalence might be attributable to greater obesity, worse lipid control, and lower SHBG levels in those patients. © 2017 American Society of Andrology and European Academy of Andrology.

  4. Epidemiology of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Ley B

    2013-11-01

    Full Text Available Brett Ley, Harold R Collard Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Francisco, San Francisco, California, USA Abstract: Idiopathic pulmonary fibrosis is a chronic fibrotic lung disease of unknown cause that occurs in adults and has a poor prognosis. Its epidemiology has been difficult to study because of its rarity and evolution in diagnostic and coding practices. Though uncommon, it is likely underappreciated both in terms of its occurrence (ie, incidence, prevalence and public health impact (ie, health care costs and resource utilization. Incidence and mortality appear to be on the rise, and prevalence is expected to increase with the aging population. Potential risk factors include occupational and environmental exposures, tobacco smoking, gastroesophageal reflux, and genetic factors. An accurate understanding of its epidemiology is important, especially as novel therapies are emerging. Keywords: idiopathic pulmonary fibrosis, epidemiology, incidence, prevalence, mortality, risk factors

  5. A case of idiopathic portalhypertension

    International Nuclear Information System (INIS)

    Serizawa, Ken; Yajima, Yoshiaki; Onodera, Hiroyoshi; Hirata, Toru; Sugawara, Hiroshi

    1982-01-01

    A 40-year-old man was referred to our clinic for esophageal varices. Histological examination of the liver biopsy samples revealed no sign of liver cirrhosis. Celiac angiography and ultrasound showed no obstruction of portal vein. A diagnosis of idiopathic portalhypertension was established. Splenomegaly and collateral circulation from spleen to left retroperitoneum were shown on CT scan and confirmed by surgical operation. CT scan following operation showed no collateral circulation. (author)

  6. Syphilis mimicking idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne; Wegener, Marianne; Jensen, Rigmor

    2011-01-01

    Idiopathic intracranial hypertension (IIH) is a condition of yet unknown aetiology affecting predominantly obese females of childbearing age. IIH is a diagnosis of exclusion as raised cerebrospinal fluid pressure may occur secondary to numerous other medical conditions. An atypical phenotype or a...... antibiotic treatment, signs and symptoms of elevated intracranial pressure resolved completely. Syphilis is a rare, but very important, differential diagnosis that in this case was clinically indistinguishable from IIH....

  7. Intestinal Volvulus in Idiopathic Steatorrhea

    Science.gov (United States)

    Warner, H. A.; Kinnear, D. G.; Cameron, D. G.

    1963-01-01

    Volvulus of the intestine has recently been observed in three patients with idiopathic steatorrhea in relapse. Two patients gave a history of intermittent abdominal pain, distension and obstipation. Radiographic studies during these attacks revealed obstruction at the level of the sigmoid colon. Reduction under proctoscopic control was achieved in one instance, spontaneous resolution occurring in the other. The third patient presented as a surgical emergency and underwent operative reduction of a small intestinal volvulus. Persistence of diarrhea and weight loss postoperatively led to further investigation and a diagnosis of idiopathic steatorrhea. In all cases, treatment resulted in clinical remission with a coincident disappearance of obstructive intestinal symptoms. The pathogenesis of volvulus in sprue is poorly understood. Atonicity and dilatation of the bowel and stretching of the mesentery likely represent important factors. The symptoms of recurrent abdominal pain and distension in idiopathic steatorrhea necessitate an increased awareness of intestinal volvulus as a complication of this disease. ImagesFig. 1Fig. 2Fig. 3Figs. 4 and 5Fig. 6 PMID:13998948

  8. Hypogonadism in patients with chronic obstructive pulmonary disease: relationship with airflow limitation, muscle weakness and systemic inflammation

    Directory of Open Access Journals (Sweden)

    Rasha Galal Daabis

    2016-03-01

    Conclusion: Hypogonadism is highly prevalent in clinically stable COPD patients and is particularly related to the severity of the airway obstruction. Systemic inflammation is present in stable COPD patients and its intensity is related to the severity of the underlying disease and it predisposes to skeletal muscle weakness and exercise intolerance. However, we failed to find a significant association between hypogonadism and muscle weakness or systemic inflammation.

  9. Genetics Home Reference: idiopathic pulmonary fibrosis

    Science.gov (United States)

    ... these health problems has idiopathic pulmonary fibrosis . Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms. In people with idiopathic pulmonary fibrosis , scarring of the lungs increases over time until the lungs can no longer ...

  10. Induction of puberty in the hypogonadal girl--practices and attitudes of pediatric endocrinologists in Europe

    DEFF Research Database (Denmark)

    Kiess, W; Conway, G; Ritzen, M

    2002-01-01

    of the results of the questionnaires and discussions of that session to further the discussion on and knowledge of current concepts of induction of puberty in the hypogonadal girl in Europe. It became clear from the data accumulated here that the start of treatment, the aims of therapy and the modalities of how...... to treat the hypogonadal girl vary amongst pediatric endocrinologists in Europe. For example, a chronological age > or =11 years was considered appropriate for the start of estrogen therapy by 40.4% (out of 188 answers), while 47.8 and 7.5% felt that a chronological age > or =13 and > or =15 years...... respectively was appropriate. In respect to the form and route of estrogen administration, the audience was asked for their common estrogen replacement practice: 31.9% used oral 17beta-estradiol treatment, while 10% would prescribe 17beta-estradiol transdermal patches. Another 12.2% would recommend conjugated...

  11. Osteopenia and bone fractures in a man with anorexia nervosa and hypogonadism

    International Nuclear Information System (INIS)

    Rigotti, N.A.; Neer, R.M.; Jameson, L.

    1986-01-01

    Women with anorexia nervosa have reduced skeletal mass. Both anorexia and osteopenia are less common in men. We describe a 22-year-old man with anorexia nervosa and severe osteopenia involving both cortical and trabecular bone who developed a pelvic fracture and multiple vertebral compression fractures. He was found to have secondary hypogonadotropic hypogonadism that was reversible with weight gain. This case illustrates the need to consider osteopenia as a potential complication of anorexia nervosa in males as well as females

  12. Osteopenia and bone fractures in a man with anorexia nervosa and hypogonadism

    Energy Technology Data Exchange (ETDEWEB)

    Rigotti, N.A.; Neer, R.M.; Jameson, L.

    1986-07-18

    Women with anorexia nervosa have reduced skeletal mass. Both anorexia and osteopenia are less common in men. We describe a 22-year-old man with anorexia nervosa and severe osteopenia involving both cortical and trabecular bone who developed a pelvic fracture and multiple vertebral compression fractures. He was found to have secondary hypogonadotropic hypogonadism that was reversible with weight gain. This case illustrates the need to consider osteopenia as a potential complication of anorexia nervosa in males as well as females.

  13. A Perspective on Middle-Aged and Older Men With Functional Hypogonadism: Focus on Holistic Management

    Science.gov (United States)

    Matsumoto, Alvin M.

    2017-01-01

    Abstract Context: Middle-aged and older men (≥50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic–pituitary–testicular axis pathology but have functional hypogonadism that is potentially reversible. Evidence Acquisition: Literature review from 1970 to October 2016. Evidence Synthesis: Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone. Also, androgen deficiency–like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. Unfortunately, lifestyle interventions remain difficult and may be insufficient even if successful. Testosterone therapy should be considered primarily for men who have significant clinical features of androgen deficiency and unequivocally low testosterone levels. Testosterone should be initiated either concomitantly with a trial of lifestyle measures, or after such a trial fails, after a tailored diagnostic work-up, exclusion of contraindications, and appropriate counseling. Conclusions: There is modest evidence that functional hypogonadism responds to lifestyle measures and optimization of comorbidities. If achievable, these interventions may have demonstrable health benefits beyond the potential for increasing testosterone levels. Therefore, treatment of underlying causes of functional hypogonadism and of symptoms should be used either as an initial or adjunctive approach to testosterone therapy. PMID:28359097

  14. Idiopathic pulmonary fibrosis: evolving concepts.

    Science.gov (United States)

    Ryu, Jay H; Moua, Teng; Daniels, Craig E; Hartman, Thomas E; Yi, Eunhee S; Utz, James P; Limper, Andrew H

    2014-08-01

    Idiopathic pulmonary fibrosis (IPF) occurs predominantly in middle-aged and older adults and accounts for 20% to 30% of interstitial lung diseases. It is usually progressive, resulting in respiratory failure and death. Diagnostic criteria for IPF have evolved over the years, and IPF is currently defined as a disease characterized by the histopathologic pattern of usual interstitial pneumonia occurring in the absence of an identifiable cause of lung injury. Understanding of the pathogenesis of IPF has shifted away from chronic inflammation and toward dysregulated fibroproliferative repair in response to alveolar epithelial injury. Idiopathic pulmonary fibrosis is likely a heterogeneous disorder caused by various interactions between genetic components and environmental exposures. High-resolution computed tomography can be diagnostic in the presence of typical findings such as bilateral reticular opacities associated with traction bronchiectasis/bronchiolectasis in a predominantly basal and subpleural distribution, along with subpleural honeycombing. In other circumstances, a surgical lung biopsy may be needed. The clinical course of IPF can be unpredictable and may be punctuated by acute deteriorations (acute exacerbation). Although progress continues in unraveling the mechanisms of IPF, effective therapy has remained elusive. Thus, clinicians and patients need to reach informed decisions regarding management options including lung transplant. The findings in this review were based on a literature search of PubMed using the search terms idiopathic pulmonary fibrosis and usual interstitial pneumonia, limited to human studies in the English language published from January 1, 2000, through December 31, 2013, and supplemented by key references published before the year 2000. Copyright © 2014 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  15. Motivation sphere features of patients with psychoendocrine syndrome on the background of hypogonadism

    Directory of Open Access Journals (Sweden)

    V.V. Ischuk,

    2017-08-01

    Full Text Available Background. Psychoneuroendocrinology is the clinical study of hormone fluctuations and their relationship to human behavior. It may be viewed from the perspective of psychiatry, where in certain mood disorders, there are associated neuroendocrine or hormonal changes affecting the brain. It may also be viewed from the perspective of endocrinology, where certain endocrine disorders can be associated with psychiatric illness. This complex blend of psychiatry, neurology and endocrinology is needed to comprehensively understand and treat psychiatric illnesses. The purpose of work was to determine particular motivational-volitional features of patients with psychoendocrine syndrome on the background of hypogonadism in 100 patients in Ukrainian Scientific-Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of Ministry of Health of Ukraine. Materials and methods. Patients were examined using the Buss — Durkee test (Buss — Durkee Hostility Inventory, A.H. Buss, A. Durkee, 1957, BDHI and Plutchik impulsivity scale (Impulsiveness Scale, R. Plutchik, H. M. van Praag, 1989, IS. Results. The study defined a clinical-psychopathological structure of impulsivity in patients with psychoendocrine syndrome on the background of hypogonadism. In patients with moderate compensation hormonal status evasion-vicarious and disprosective correlates of impulsive behaviors prevail. In the decompensation state thymic labile and disretentive correlates prevail. Conclusions. It was found statistically significant predominance of the intensity of aggressive reaction forms among patients with hypogonadism in decompensated state (mediated by the phenomena of aggression, irritability, negativism, resentment, verbal aggression and guilt.

  16. Hypogonadism and subnormal total testosterone levels in men with type 2 diabetes mellitus

    International Nuclear Information System (INIS)

    Ogbera, O.A.; Sonny, C.; Olufemi, F.; Wale, A.

    2011-01-01

    Objective: To determine the frequency of testosterone deficiency syndrome (TDS) in men with type 2 diabetes mellitus (DM). Study Design: A cross-sectional study. Place and Duration of Study: The Gbagada General Hospital, Gbagada Lagos, Nigeria, from December 2009 to May 2010. Methodology: A total of 203 men with type 2 DM aged 30-86 years were evaluated for TDS by a combination of positive ADAM (androgen deficiency in the ageing male) scores and subnormal total testosterone levels. Mild testosterone deficiency referred to total testosterone (TT) levels of 8-12 nmol/L with symptoms of hypogonadism and severe testosterone deficiency referred to TT levels < 8 nmol/L with or without hypogonadal symptoms. Results: Mild and severe TDS were present in 18.3% and 17% respectively of the study subjects. Commonly occurring clinical parameters of the TDS were erectile dysfunction and loss of libido, which were documented in 63% and 60% respectively in the study subjects. The majority of clinical features of the TDS were comparable in men with and without the TDS. Conclusion: About a third of men with type 2 DM had the TDS. The majority of the symptoms of hypogonadism are largely non-specific and their occurrence is comparable in men with and without low testosterone levels; thus, underscoring the need to have testosterone levels determined in men presenting with such symptoms. (author)

  17. Multi-Institutional Survey of Medical Treatment for Late-Onset Hypogonadism in Japan.

    Science.gov (United States)

    Taniguchi, Hisanori; Matsuda, Tadashi

    2017-03-01

    The adequate criteria for late-onset hypogonadism (LOH) diagnosis, including serum testosterone levels, type (total or free testosterone) and duration of androgen replacement therapy, and evaluations of treatment effectiveness remain controversial. To evaluate the current status of medical treatment for LOH in Japan, the first nationwide survey were performed. A total of 35 questionnaires answered by urologists in high-volume facilities were analyzed. The median numbers of patients with hypogonadism-related symptoms per month were 10. Aging Male Symptom Score, International Index of Erectile Function, and International Prostate Symptom Score questionnaires were widely used for questionnaires. The diagnostic criteria for LOH varied. Among the patients who presented with hypogonadism-related symptoms, the mean proportion of patients undergoing treatment for LOH was 62.3%. In Japan, LOH was treated not only with testosterone enanthate injections or testosterone ointment but also with Kampo medicine. In many facilities, LOH treatment effectiveness was assessed after a 3-month period. Efficacy was assessed in different ways. Treatment effectiveness rate ranged from 30% to 80%. The duration of LOH treatment was not fixed and was established individually by both the patient and treating physician. This study showed that the real clinical practices for LOH are very diverse, and a general consensus is needed.

  18. Clomiphene citrate and testosterone gel replacement therapy for male hypogonadism: efficacy and treatment cost.

    Science.gov (United States)

    Taylor, Frederick; Levine, Laurence

    2010-01-01

    The efficacy of oral clomiphene citrate (CC) in the treatment of male hypogonadism and male infertility (MI) with low serum testosterone and normal gonadotropin levels has been reported. The aim of this article is to evaluate CC and testosterone gel replacement therapy (TGRT) with regard to biochemical and clinical efficacy and cost. The main outcome measures were change in serum testosterone with CC and TGRT therapy, and change in the androgen deficiency in aging male (ADAM) questionnaire scores with CC therapy. Men receiving CC or TGRT with either Androgel 1% or Testim 1% for hypogonadism (defined as testosterone treatment initiation and semi-annually thereafter. Retrospective data collection was performed via chart review. Subjective follow up of patients receiving CC was performed via telephone interview using the ADAM questionnaire. A hundred and four men (65 CC and 39 TGRT) were identified who began CC (50 mg every other day) or TGRT (5 g). Average age (years) was 42(CC) vs. 57 (TGRT). Average follow up was 23 months (CC, range 8-40 months) vs. 46 months (TGRT, range 6-149 months). Average posttreatment testosterone was 573 ng/dL in the CC group and 553 ng/dL in the TGRT group (P value treatment option for men with hypogonadism, demonstrating biochemical and clinical efficacy with few side effects and lower cost as compared with TGRT.

  19. Late onset hypogonadism of men is not equivalent to the menopause.

    Science.gov (United States)

    Saad, Farid; Gooren, Louis J

    2014-09-01

    Some men between the ages 45 and 60 years develop complaints and symptoms reminiscent of menopausal complaints in women. So, parallels were sought between the changes in female and male endocrinology during that period of life. Indeed, men do show a decline of serum testosterone from age 40 to 50 years onwards but it is a slow decline of 1-2% per year and over time it may amount to hypogonadism. The mechanism of a decline in serum testosterone in men does not resemble the menopause; it is partially an aging neuroendocrine system with a less efficient testosterone production but equally or more important, the result of inhibition of testosterone production by metabolic factors in relation to visceral obesity. These effects are in part reversible with weight loss. A hypogonadal state in aging men has deleterious effects. Mortality of all causes is highest in men with low testosterone impacting on their metabolic state leading to diabetes mellitus, cardiovascular disease, osteoporosis, and sexual dysfunction. Normalization of testosterone in aging hypogonadal men has a beneficial effect on the above pathologies. The fear that testosterone treatment of elderly men would lead to prostate disease has not been substantiated in studies. So, while men do not have a 'menopause', testosterone deficiency in old age deserves serious attention. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  20. Natural course of hypogonadism diagnosed during hospitalization in aged male patients.

    Science.gov (United States)

    Iglesias, P; Prado, F; Muñoz, A; Guerrero, M T; Macías, M C; Ridruejo, E; Tajada, P; García-Arévalo, C; Díez, J J

    2015-04-01

    Our aim was to assess short-term natural course of hypogonadism diagnosed during hospitalization for acute disease in aged male patients after discharge. A group of 43 hypogonadal males, aged 86.7±5.7 year, was studied. Serum concentrations of testosterone (T) and gonadotropins (follicle-stimulating hormone, FSH, and luteinizing hormone, LH) were measured in every patient both at admission and one month after discharge. Mean serum T at entry was 115.4±48.0 ng/dl. Hypogonadism was hyper-, hypo-, and normogonadotropic in 20 (46.5%), 20 (46.5%), and 3 (7.0%) patients, respectively. One month after discharge serum T concentrations increased significantly (230.9±135.6 ng/dl, phypogonadism (n=16, 32.7%; 82.8±51.6 ng/dl, phypogonadism discovered during hospitalization spontaneously normalize their serum T concentrations one month after discharge. Serum gonadotropin concentrations also increased after discharge. Serum T levels at admission was an independent predictor for the normalization of serum T concentrations.

  1. How to recognize late-onset hypogonadism in men with sexual dysfunction

    Science.gov (United States)

    Corona, Giovanni; Rastrelli, Giulia; Vignozzi, Linda; Mannucci, Edoardo; Maggi, Mario

    2012-01-01

    Late-onset hypogonadism (LOH) has been considered the most common form of male hypogonadism with a prevalence of approximately 1 in 100 men. Diagnosis of LOH should be made in symptomatic men with unequivocally low serum testosterone (T) levels. However, its clinical presentation is often insidious and difficult to recognize because it is characterized by nonspecific symptoms that make differential diagnosis with physiological ageing problematic. Sexual dysfunction is the most important determinant for medical consultation and the most specific symptom associated with low T. We therefore analysed a consecutive series of 1734 subjects who attended our unit for sexual dysfunction to investigate the associations between low T (different thresholds), sexual parameters, medical history data (delayed puberty, pituitary disease or cryptorchidism) and their physical exam results. Metabolic parameters, in particular waist circumference, display the greatest accuracy in detecting low T. We found that only the association of several symptoms and signs could significantly raise the clinical suspicion of low T. Structured inventories, which cluster together symptoms and signs of hypogonadism, can help clinicians suspect androgen deficiency. In particular, structured interviews, such as ANDROTEST, have been demonstrated to have a greater accuracy when compared to self reported questionnaires in detecting low T levels. PMID:22286862

  2. Idiopathic thrombocytopenic purpura during pregnancy

    Directory of Open Access Journals (Sweden)

    Tânia Regina Padovani

    2012-04-01

    Full Text Available ABSTRACT This essay is based on a medical case of idiopathic thrombocytopenic purpura (ITP during pregnancy. The cause of ITP is unknown, who suffer from this disorder, generate antibodies that destroy thrombocytes from their blood. ITP affects women of childbearing age and is associated to maternal and fetal complications. The management of a pregnant patient is difficult and requires the combined care of an obstetrician, a hematologist, and a neonatologist. The main therapeutic options for ITP in pregnant women include glucocorticoids and intravenous immunoglobulin. Splenectomy may be (performed in refractory cases. There is no concerning the management and treatment of pregnant women.

  3. Wind turbines and idiopathic symptoms

    DEFF Research Database (Denmark)

    Blanes-Vidal, Victoria; Schwartz, Joel

    2016-01-01

    Whether or not wind turbines pose a risk to human health is a matter of heated debate. Personal reactions to other environmental exposures occurring in the same settings as wind turbines may be responsible of the reported symptoms. However, these have not been accounted for in previous studies. We...... investigated whether there is an association between residential proximity to wind turbines and idiopathic symptoms, after controlling for personal reactions to other environmental co-exposures. We assessed wind turbine exposures in 454 residences as the distance to the closest wind turbine (Dw) and number...... of wind turbines

  4. Idiopathic hypertrophic subaortic stenosis. I

    International Nuclear Information System (INIS)

    Kvam, G.

    1980-01-01

    Biplane left ventricular cineangiographies in 4 patients with typical obstructive idiopathic hypertrophic subaortic stenosis (IHSS) and in control patients with normal left ventricles were analysed. In the protruding hypertrophic muscular interventricular septum of IHSS a markedly reduced shortening occurs in either direction during the systolic contraction. It does not bend towards the right ventricle. It is suggested that the septum of IHSS acts as a suspender during the systolic contraction, thereby accounting for the fast stroke volume ejection and the high ejection fraction of IHSS. (Auth.)

  5. Endocrine Society of Australia position statement on male hypogonadism (part 1): assessment and indications for testosterone therapy.

    Science.gov (United States)

    Yeap, Bu B; Grossmann, Mathis; McLachlan, Robert I; Handelsman, David J; Wittert, Gary A; Conway, Ann J; Stuckey, Bronwyn Ga; Lording, Douglas W; Allan, Carolyn A; Zajac, Jeffrey D; Burger, Henry G

    2016-08-15

    This article, Part 1 of the Endocrine Society of Australia's position statement on male hypogonadism, focuses on assessment of male hypogonadism, including the indications for testosterone therapy. (Part 2 will deal with treatment and therapeutic considerations.) Key points and recommendations are:Pathological hypogonadism arises due to diseases of the hypothalamus or pituitary gland (hypogonadotropic hypogonadism) or testes (hypergonadotropic hypogonadism). It is a clinical diagnosis with a pathological basis, confirmed by hormone assays.Hormonal assessment is based on measurement of circulating testosterone, luteinising hormone (LH) and follicle-stimulating hormone (FSH) concentrations. Measurement of sex hormone-binding globulin levels can be informative, but use of calculated free testosterone is not recommended for clinical decision making.Testosterone replacement therapy is warranted in men with pathological hypogonadism, regardless of age.Currently, there are limited data from high-quality randomised controlled trials with clinically meaningful outcomes to justify testosterone treatment in older men, usually with chronic disease, who have low circulating testosterone levels but without hypothalamic, pituitary or testicular disease.Obesity, metabolic syndrome and type 2 diabetes are associated with lowering of circulating testosterone level, but without elevation of LH and FSH levels. Whether these are non-specific consequences of non-reproductive disorders or a correctable deficiency state is unknown, but clear evidence for efficacy and safety of testosterone therapy in this setting is lacking.Glucocorticoid and opioid use is associated with possibly reversible reductions in circulating testosterone level, without elevation of LH and FSH levels. Where continuation of glucocorticoid or opioid therapy is necessary, review by an endocrinologist may be warranted.Changes in management as result of the position statement: Men with pathological hypogonadism should

  6. Atherosclerosis in Juvenile Idiopathic Arthritis

    Directory of Open Access Journals (Sweden)

    Ewa Jednacz

    2012-01-01

    Full Text Available Atherosclerosis is a chronic inflammatory disease of the arteries. Clinical consequences of the atherosclerotic process occur in the adult population, however atherosclerotic process begins in childhood. The classic risk factors for atherosclerosis include obesity, dyslipidaemia, age, gender or family history. In recent years, attention has been drawn to the similarity between atherosclerotic inflammatory processes and inflammatory changes in the course of systemic connective tissue disease, in particular systemic lupus etythematosus (SLE or rheumatoid arthritis (RA. There is also observed the similarity of the pathogenetic background of development of atherosclerosis and juvenile idiopathic arthritis (JIA. Elevated levels of pro-inflammatory cytokines are observed in the course of juvenile idiopathic arthritis. Also homocysteine concentrations, which may play a significant role in the development of atherosclerotic lesions, are observed higher in patients with JIA. Some studies revealed higher carotid intima-media thickness (IMT index values in children with JIA. In view of the fact that atherosclerotic process begins as early as in childhood, the introduction of appropriate preventive measures in children is a matter of utmost importance.

  7. A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

    Science.gov (United States)

    Nimri, Revital; Lebenthal, Yael; Lazar, Liora; Chevrier, Lucie; Phillip, Moshe; Bar, Meytal; Hernandez-Mora, Eva; de Roux, Nicolas; Gat-Yablonski, Galia

    2011-03-01

    The G protein-coupled receptor 54 (GPR54), the kisspeptin receptor, is essential for stimulation of GnRH secretion and induction of puberty. Recently loss-of-function mutations of the GPR54 have been implicated as a cause of isolated idiopathic hypogonadotropic hypogonadism (IHH). The objective of the study was to identify the genetic cause of IHH in a consanguineous pedigree and to characterize the phenotypic features from infancy through early adulthood. In six patients with normosmic IHH belonging to two families of Israeli Muslim-Arab origin highly related to one another, DNA was analyzed for mutations in the GnRHR and GPR54 genes, with functional analysis of the mutation found. The five males underwent comprehensive endocrine evaluation and were under longitudinal follow-up; the one female presented in early adulthood. A new homozygous mutation (c.T815C) in GPR54 leading to a phenylalanine substitution by serine (p.F272S) was detected in all patients. Functional analysis showed an almost complete inhibition of kisspeptin-induced GPR54 signaling and a dramatic decrease of the mutated receptor expression at the cell surface. The males exhibited the same clinical features from infancy to adulthood, characterized by cryptorchidism, a relatively short penis, and no spontaneous pubertal development. The female patient presented at 18 yr with impuberism and primary amenorrhea. Repeated stimulation tests demonstrated complete gonadotropin deficiency throughout follow-up. A novel loss-of-function mutation (p.F272S) in the GPR54 gene is associated with familial normosmic IHH. Underdeveloped external genitalia and impuberism point to the major role of GPR54 in the activation of the gonadotropic axis from intrauterine life to adulthood.

  8. Mutational Analysis of TAC3 and TACR3 Genes in Patients with Idiopathic Central Pubertal Disorders

    Science.gov (United States)

    Tusset, Cintia; Noel, Sekoni D.; Trarbach, Ericka B.; Silveira, Letícia F. G.; Jorge, Alexander A. L.; Brito, Vinicius N.; Cukier, Priscila; Seminara, Stephanie B.; de Mendonça, Berenice B.; Kaiser, Ursula B.; Latronico, Ana Claudia

    2013-01-01

    Aim To investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders. Patients and Methods Two hundred and thirty seven patients were studied: 114 with central precocious puberty (CPP), 73 with normosmic isolated hypogonadotropic hypogonadism (IHH) and 50 with constitutional delay of growth and puberty (CDGP). The control group consisted of 150 Brazilian individuals with normal pubertal development. Genomic DNA was extracted from peripheral blood and the entire coding region of both TAC3 and TACR3 genes were amplified and automatically sequenced. Results We identified one variant (p.A63P) in NKB and four variants, p.G18D, p.L58L (c.172C>T), p.W275* and p.A449S in NK3R, which were absent in the control group. The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP. The known p.G18D, p.L58L and p.W275* variants were identified in three unrelated males with normosmic IHH. Conclusion Rare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype. PMID:23329188

  9. [Physiotherapy for juvenile idiopathic arthritis].

    Science.gov (United States)

    Spamer, M; Georgi, M; Häfner, R; Händel, H; König, M; Haas, J-P

    2012-07-01

    Control of disease activity and recovery of function are major issues in the treatment of children and adolescents suffering from juvenile idiopathic arthritis (JIA). Functional therapies including physiotherapy are important components in the multidisciplinary teamwork and each phase of the disease requires different strategies. While in the active phase of the disease pain alleviation is the main focus, the inactive phase requires strategies for improving motility and function. During remission the aim is to regain general fitness by sports activities. These phase adapted strategies must be individually designed and usually require a combination of different measures including physiotherapy, occupational therapy, massage as well as other physical procedures and sport therapy. There are only few controlled studies investigating the effectiveness of physical therapies in JIA and many strategies are derived from long-standing experience. New results from physiology and sport sciences have contributed to the development in recent years. This report summarizes the basics and main strategies of physical therapy in JIA.

  10. Cough in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Mirjam J.G. van Manen

    2016-09-01

    Full Text Available Many patients with idiopathic pulmonary fibrosis (IPF complain of chronic refractory cough. Chronic cough is a distressing and disabling symptom with a major impact on quality of life. During recent years, progress has been made in gaining insight into the pathogenesis of cough in IPF, which is most probably “multifactorial” and influenced by mechanical, biochemical and neurosensory changes, with an important role for comorbidities as well. Clinical trials of cough treatment in IPF are emerging, and cough is increasingly included as a secondary end-point in trials assessing new compounds for IPF. It is important that such studies include adequate end-points to assess cough both objectively and subjectively. This article summarises the latest insights into chronic cough in IPF. It describes the different theories regarding the pathophysiology of cough, reviews the different methods to assess cough and deals with recent and future developments in the treatment of cough in IPF.

  11. Pathogenesis of Idiopathic Pulmonary Fibrosis

    Science.gov (United States)

    Wolters, Paul J.; Collard, Harold R.; Jones, Kirk D.

    2014-01-01

    Idiopathic pulmonary fibrosis (IPF) is a fibrosing interstitial lung disease associated with aging that is characterized by the histopathological pattern of usual interstitial pneumonia. Although an understanding of the pathogenesis of IPF is incomplete, recent advances delineating specific clinical and pathologic features of IPF have led to better definition of the molecular pathways that are pathologically activated in the disease. In this review we highlight several of these advances, with a focus on genetic predisposition to IPF and how genetic changes, which occur primarily in epithelial cells, lead to activation of profibrotic pathways in epithelial cells. We then discuss the pathologic changes within IPF fibroblasts and the extracellular matrix, and we conclude with a summary of how these profibrotic pathways may be interrelated. PMID:24050627

  12. Idiopathic Inflammatory Myopathies: An update

    Directory of Open Access Journals (Sweden)

    Bulent KURT

    2016-06-01

    Full Text Available Idiopathic inflammatory myopathies (IIM are a heterogeneous group of disease with complex clinical features. It has been sub-classified as: (1 Dermatomyositis, (2 Polymyositis, and (3 Inclusion body myositis (IBM. Nowadays, there are some studies in literature suggest necrotizing autoimmune myopathy and immune-mediated necrotizing myopathy should also be added to this group of disease. There is a debate in the diagnosis of IIMs and up until now, about 12 criteria systems have been proposed. Some of the criteria systems have been used widely such as Griggs et al.'s proposal for IBM. Clinical findings, autoantibodies, enzymes, electrophysiological, and muscle biopsy findings are diagnostic tools. Because of diseases' complexity, none of the findings are diagnostic alone. In this study, we discussed the diagnostic criteria of IMMs and described detailed morphological features. [J Interdiscipl Histopathol 2016; 4(2.000: 41-45

  13. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... disease to fight microbial invaders and facilitate tissue repair. Normally, the body stops the inflammatory response after healing is complete to prevent damage to its own cells and tissues. In people with juvenile idiopathic arthritis , the inflammatory ...

  14. Fahr's syndrome - Idiopathic Bilateral Striopallidodentate Calcinosis ...

    African Journals Online (AJOL)

    Log in or Register to get access to full text downloads. ... Fehr's disease, also known as Idiopathic Calcification of the Basal Ganglia (ICBG) or ... ferrocalcinosis (and many others), is a rare sporadic or familial neurological disorder whose ...

  15. Genetics Home Reference: idiopathic inflammatory myopathy

    Science.gov (United States)

    ... stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can ... and development? More about Mutations and Health Inheritance Pattern Most cases of idiopathic inflammatory myopathy are sporadic, ...

  16. Family history of idiopathic REM behavior disorder

    DEFF Research Database (Denmark)

    Dauvilliers, Yves; Postuma, Ronald B; Ferini-Strambi, Luigi

    2013-01-01

    To compare the frequency of proxy-reported REM sleep behavior disorder (RBD) among relatives of patients with polysomnogram-diagnosed idiopathic RBD (iRBD) in comparison to controls using a large multicenter clinic-based cohort.......To compare the frequency of proxy-reported REM sleep behavior disorder (RBD) among relatives of patients with polysomnogram-diagnosed idiopathic RBD (iRBD) in comparison to controls using a large multicenter clinic-based cohort....

  17. Effects of short-term testosterone replacement on areal bone mineral density and bone turnover in young hypogonadal males

    Directory of Open Access Journals (Sweden)

    Prasun Deb

    2012-01-01

    Full Text Available Context: Effect of parenteral testosterone esters administration on bone-mineral density (BMD and bone turnover in young age onset male hypogonadism is not studied in Indian subjects. Aims: To prospectively study the effect of short-term (6 months replacement therapy with parenteral testosterone enanthate-propionate combination on BMD and bone turnover markers in hypogonadal adult patients. Settings and Design: Prospective, tertiary care academic center. Materials and Methods: Thirteen young, otherwise healthy hypogonadal males (age 25.5 ± 4.9 yrs, serum testosterone 2.56 ± 4.29 nmol/l were subjected to BMD measurements (DXA and estimation of urinary Crosslaps™ and serum osteocalcin at baseline. Twelve healthy age and BMI-matched males served as controls for BMD measurements. The hypogonadal patients were administered parenteral testosterone esters (as mixed enanthate and propionate 250 mg i.m. every 2-3 weeks, and prospectively followed for 6 months. BMD and bone markers were studied at the end of 6 months. Statistical Analysis Used: Mann-Whitney nonparametric test, paired t-test and Pearson′s test of two-tail significance. Results: At baseline, BMD was significantly lower in hypogonadal males as compared to that in controls. With testosterone replacement, there was significant improvement in BMD, both at trabecular and cortical sites, There was a decline in bone turnover with treatment (Ur Crosslaps™:creatinine ratio: pretreatment 72.8 ± 40.4, post-treatment 35.5 ± 23.8 μg/mmol, P = 0.098; serum osteocalcin: pre-treatment 41.0 ± 16.8, post-treatment 31.7 ± 2.1 ng/ml, P = 0.393. Conclusions: Short-term parenteral testosterone replacement significantly improves BMD at the hip, lumbar spine and forearm in hypogonadal young males.

  18. Hypogonadism in testicular cancer patients is associated with risk factors of cardiovascular disease and the metabolic syndrome.

    Science.gov (United States)

    Bogefors, C; Isaksson, S; Bobjer, J; Kitlinski, M; Leijonhufvud, I; Link, K; Giwercman, A

    2017-07-01

    More than 95% of testicular cancer are cured but they are at increased long-term risk of cardiovascular disease. The risk of cardiovascular disease and treatment intensity was reported, but it is unknown whether this effect of cancer therapy is direct or indirect, mediated through androgen deficiency. Our aim was, therefore, to evaluate whether testicular cancer patients have increased the prevalence of risk factors of cardiovascular disease and if these risk factors are associated with hypogonadism and/or the cancer treatment given. In 92 testicular cancer patients (mean 9.2 years follow-up) and age-matched controls, blood samples were analysed for lipids, total testosterone, luteinizing hormone (LH), glucose and insulin. An estimate of insulin resistance, HOMAir was calculated. Hypogonadism was defined as total testosterone  10 IU/L and/or androgen replacement. In testicular cancer men with hypogonadism, compared with eugonadal patients, higher insulin (mean difference: 3.10 mIU/L; p = 0.002) and HOMAir (mean difference: 0.792; p = 0.007) were detected. Hypogonadism group presented with increased risk (OR = 4.4; p = 0.01) of metabolic syndrome. Most associations between the treatment given and the metabolic parameters became statistically non-significant after adjustment for hypogonadism. In conclusion, testicular cancer patients with signs of hypogonadism presented with significantly increased risk of metabolic syndrome and investigation of endocrine and metabolic parameters is warranted in these patients. © 2017 American Society of Andrology and European Academy of Andrology.

  19. Androgen replacement therapy in late-onset hypogonadism: current concepts and controversies - a mini-review.

    Science.gov (United States)

    Mäkinen, Juuso I; Huhtaniemi, Ilpo

    2011-01-01

    Normal testicular function is essential for the maintenance of male physical strength and behaviour irrespective of age. A new term of late-onset hypogonadism (LOH) has been coined for the condition of decreased testosterone (T) and hypogonadal symptoms in ageing men. The most important testicular hormone, T, is responsible for the gender-specific androgenic-anabolic effects in men. Testicular T production remains stable until around the age of 40 years after which it declines by 1-2% annually. Despite this age-related decline, serum T levels in most older men remain within the reference range of younger men. The decreasing androgen levels are paralleled by well-defined objective biological and nonspecific subjective signs and symptoms of ageing. Because these symptoms are similar to those observed in young men with documented hypogonadism, androgen replacement therapy (ART) has been considered a logical way to treat them. A thorough review of the existing literature was performed to evaluate the current concepts and controversies related to ageing men and ART. Although it is intuitively logical that the symptoms of LOH are due to the ageing-related deficiency of T, and that they can be reversed by ART, the evidence for this is still variable and often weak. In particular, evidence-based information about long-term benefits and risks of ART in ageing men is largely missing. Despite widespread use, evidence-based proof for the objective benefits and side effects of ART of elderly men is still scanty, and such treatments should be considered experimental. Copyright © 2010 S. Karger AG, Basel.

  20. [Hypogonadism and the quality of life in male patients with type-2 diabetes mellitus].

    Science.gov (United States)

    Zhang, Lu-Yao; He, Wei; Wan, Jian-Xin; Yin, Qi-Qi; Cheng, Zhen; Chen, Guan-Ming; Ji, Wen; Li, Hai; Li, Yan-Bing; Liao, Zhi-Hong

    2016-12-01

    To compare the level of testosterone between type-2 diabetes mellitus (T2DM) patients and healthy controls and to investigate the status of hypogonadism and the influence of hypopgonadism on the quality of life. We collected serum total testosterone (TT), free testosterone (FT), sex hormone-binding globulin (SHBG), and other clinical data from 166 T2DM patients aged over 30 years and 186 age-matched healthy controls. We investigated the quality of life (QoL) of the two groups of subjects using the questionnaires of Androgen Deficiency in Aging Males (ADAM), Aging Male Symptoms (AMS), 36-Item Short-Form Health Survey (SF-36), and Special Quality of Life for Diabetes Mellitus (DSQL). The level of calculated FT (cFT) was remarkably lower in the T2DM patients than in the healthy controls (Pmales with hypogonadism showed significant differences from those without in age, height, systolic blood pressure, and creatinine (Phypogonadism was 51.81% in the T2DM patients, 31.58% in the 30-39 yr group, 32.50% in the 40-49 yr group, 50% in the 50-59 yr group, 69.23% in the 60-69 yr group, and 77.27% in the ≥70 yr group, elevated by 77.4% with the increase of 10 years of age (OR = 1.774, Phypogonadism. Age is a main risk factor of hypogonadism. Severer testosterone deficiency symptoms are associated with lower scores of QoL in T2DM males.

  1. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

    Science.gov (United States)

    Bonomi, Marco; Vezzoli, Valeria; Krausz, Csilla; Guizzardi, Fabiana; Vezzani, Silvia; Simoni, Manuela; Bassi, Ivan; Duminuco, Paolo; Di Iorgi, Natascia; Giavoli, Claudia; Pizzocaro, Alessandro; Russo, Gianni; Moro, Mirella; Fatti, Letizia; Ferlin, Alberto; Mazzanti, Laura; Zatelli, Maria Chiara; Cannavò, Salvo; Isidori, Andrea M; Pincelli, Angela Ida; Prodam, Flavia; Mancini, Antonio; Limone, Paolo; Tanda, Maria Laura; Gaudino, Rossella; Salerno, Mariacarolina; Francesca, Pregnolato; Maghnie, Mohamad; Maggi, Mario; Persani, Luca

    2018-01-01

    Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present although information on their frequency are scanty, particularly according to the age of presentation. Observational cohort study carried out between January 2008 and June 2016 within a national network of academic or general hospitals. We performed a detailed phenotyping of 503 IHH patients with: (1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; (2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects. Cohort was divided on IHH onset (PPO, pre-pubertal onset or AO, adult onset) and olfactory function: PPO-nIHH ( n  = 275), KS ( n  = 184), AO-nIHH ( n  = 36) and AO-doIHH (AO-IHH with defective olfaction, n  = 8). 90% of patients were classified as PPO and 10% as AO. Typical midline and olfactory defects, bimanual synkinesis and familiarity for pubertal delay were also found among the AO-IHH. Mean age at diagnosis was significantly earlier and more frequently associated with congenital hypogonadism stigmata in patients with Kallmann's syndrome (KS). Synkinesis, renal and male genital tract anomalies were enriched in KS. Overweight/obesity are significantly associated with AO-IHH rather than PPO-IHH. Patients with KS are more prone to develop a severe and complex phenotype than nIHH. The presence of typical extra-gonadal defects and familiarity for PPO-IHH among the AO-IHH patients indicates a common predisposition with variable clinical expression. Overall, these findings improve the understanding of IHH and may have a positive impact on the management of patients and their families. © 2018 European Society of Endocrinology.

  2. Idiopathic Ophthalmodynia and Idiopathic Rhinalgia: A Prospective Series of 16 New Cases.

    Science.gov (United States)

    Pareja, Juan A; Montojo, Teresa; Guerrero, Ángel L; Álvarez, Mónica; Porta-Etessam, Jesús; Cuadrado, María L

    2015-01-01

    Idiopathic ophthalmodynia and idiopathic rhinalgia were described a few years ago. These conditions seem specific pain syndromes with a distinctive location in the eye or in the nose. We aimed to present a new prospective series in order to verify the consistency of these syndromes. We performed a descriptive study of all patients referred to our regional neurologic clinics from 2010 to 2014 because of facial pain exclusively felt in the eye or in the nose fulfilling the proposed diagnostic criteria for idiopathic ophthalmodynia and idiopathic rhinalgia. There were 9 patients with idiopathic ophthalmodynia and 7 patients with idiopathic rhinalgia, with a clear female preponderance, and a mean age at onset in the fifth decade. The pain was usually moderate and the temporal pattern was generally chronic. Only one patient reported accompaniments (hypersensitivity to the light and to the flow of air in the symptomatic eye). Preventive treatment with amitriptyline, pregabalin, or gabapentin was partially or totally effective. The clinical features of this new series parallels those of the original description, thus indicating that both idiopathic ophthalmodynia and idiopathic rhinalgia have clear-cut clinical pictures with excellent consistency both inter- and intra-individually. © 2015 American Headache Society.

  3. Former Abusers of Anabolic Androgenic Steroids Exhibit Decreased Testosterone Levels and Hypogonadal Symptoms Years after Cessation

    DEFF Research Database (Denmark)

    Rasmussen, Jon Jarløv; Selmer, Christian; Østergren, Peter Busch

    2016-01-01

    training. Reproductive hormones (FSH, LH, testosterone, inhibin B and anti-Müllerian hormone (AMH)) were measured using morning blood samples. Symptoms of hypogonadism (depressive symptoms, fatigue, decreased libido and erectile dysfunction) were recorded systematically. RESULTS: Former AAS abusers...... exhibited significantly lower median (25th -75th percentiles) total and free testosterone levels than control participants (total testosterone: 14.4 (11.9-17.7) nmol/l vs. 18.8 (16.6-22.0) nmol/l) (P testosterone levels below...... the lower reference limit (12.1 nmol/l) whereas no control participants exhibited testosterone below this limit (P

  4. Idiopathic Gingival Fibromatosis: Case Report and Its Management

    Directory of Open Access Journals (Sweden)

    Prashant P. Jaju

    2009-01-01

    Full Text Available Idiopathic gingival fibromatosis is a rare condition. We present a case of idiopathic gingival fibromatosis with its multidisciplinary approach of management. The clinical, radiographic, and histopathological features have been described in detail.

  5. Juvenile idiopathic arthritis – an update on its diagnosis and ...

    African Journals Online (AJOL)

    2015-12-03

    Dec 3, 2015 ... Juvenile idiopathic arthritis (JIA) is the most common form of chronic arthritis in children and the most ... A swollen knee and uveitis in a young girl, for instance, is ..... Methotrexate for treating juvenile idiopathic arthritis.

  6. Switch to restoration therapy in a testosterone treated central hypogonadism with erythrocytosis

    Directory of Open Access Journals (Sweden)

    B Cangiano

    2017-07-01

    Full Text Available We describe a case of severe erythrocytosis caused by testosterone replacement therapy in a 66-year-old man affected with hypogonadotropic hypogonadism (HH determining osteoporosis, resolved by switching to restoration therapy with clomiphene citrate. The patient complained fatigue, loss of libido and defective erections and a spontaneous vertebral fracture despite bisphosphonate therapy and vitamin D supplementation. The examinations proved isolated HH and he was therefore treated with testosterone gel with regression of specific manifestations but elevated hemoglobin and hematocrit values. Therefore, it was decided to switch to a restoration therapy with clomiphene citrate 25 mg/die, which resulted in the resolution of symptoms without evident side effects. In a couple of months, the patient showed normalization of testosterone levels and increment of testicular volume. Since secondary hypogonadism is the consequence of an insufficient stimulation of the gonads by hypothalamic–pituitary axis, therapeutic approaches aimed to restore endogenous testosterone production should be considered in alternative to testosterone replacement, particularly if side effects intervene. Among these strategies, clomiphene citrate seems to have a high efficacy and safety profile also in the elderly with isolated HH and no evident pituitary lesion.

  7. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

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    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  8. Mesenchymal stem cells from human umbilical cord ameliorate testicular dysfunction in a male rat hypogonadism model

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    Zhi-Yuan Zhang

    2017-01-01

    Full Text Available Androgen deficiency is a physical disorder that not only affects adults but can also jeopardize children′s health. Because there are many disadvantages to using traditional androgen replacement therapy, we have herein attempted to explore the use of human umbilical cord mesenchymal stem cells for the treatment of androgen deficiency. We transplanted CM-Dil-labeled human umbilical cord mesenchymal stem cells into the testes of an ethane dimethanesulfonate (EDS-induced male rat hypogonadism model. Twenty-one days after transplantation, we found that blood testosterone levels in the therapy group were higher than that of the control group (P = 0.037, and using immunohistochemistry and flow cytometry, we observed that some of the CM-Dil-labeled cells expressed Leydig cell markers for cytochrome P450, family 11, subfamily A, polypeptide 1, and 3-β-hydroxysteroid dehydrogenase. We then recovered these cells and observed that they were still able to proliferate in vitro. The present study shows that mesenchymal stem cells from human umbilical cord may constitute a promising therapeutic modality for the treatment of male hypogonadism patients.

  9. Targeted Disruption of ALK Reveals a Potential Role in Hypogonadotropic Hypogonadism.

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    Barbara Witek

    Full Text Available Mice lacking ALK activity have previously been reported to exhibit subtle behavioral phenotypes. In this study of ALK of loss of function mice we present data supporting a role for ALK in hypogonadotropic hypogonadism in male mice. We observed lower level of serum testosterone at P40 in ALK knock-out males, accompanied by mild disorganization of seminiferous tubules exhibiting decreased numbers of GATA4 expressing cells. These observations highlight a role for ALK in testis function and are further supported by experiments in which chemical inhibition of ALK activity with the ALK TKI crizotinib was employed. Oral administration of crizotinib resulted in a decrease of serum testosterone levels in adult wild type male mice, which reverted to normal levels after cessation of treatment. Analysis of GnRH expression in neurons of the hypothalamus revealed a significant decrease in the number of GnRH positive neurons in ALK knock-out mice at P40 when compared with control littermates. Thus, ALK appears to be involved in hypogonadotropic hypogonadism by regulating the timing of pubertal onset and testis function at the upper levels of the hypothalamic-pituitary gonadal axis.

  10. Prolonged Hypogonadism in Males Following Withdrawal from Anabolic-Androgenic Steroids: an Underrecognized Problem

    Science.gov (United States)

    Kanayama, Gen; Hudson, James I.; DeLuca, James; Isaacs, Stephanie; Baggish, Aaron; Weiner, Rory; Bhasin, Shalender; Pope, Harrison G.

    2015-01-01

    Aims To assess the frequency and severity of hypogonadal symptoms in male long-term anabolic-androgenic steroid (AAS) misusers who have discontinued AAS use. Design Cross-sectional, naturalistic. Setting Outpatient facility. Participants Twenty-four male former long-term AAS users and 36 non-AAS-using weightlifters, recruited by advertisement in Massachusetts, USA. Five of the former users were currently receiving treatment with physiologic testosterone replacement, leaving 19 untreated users for the numerical comparisons below. Measurements The Structured Clinical Interview for DSM-IV, questions regarding history of AAS use, physical examination, serum hormone determinations, and the International Index of Erectile Function (IIEF). Findings Compared with the 36 non-AAS-using weightlifters, the 19 untreated former AAS users displayed significantly smaller testicular volumes (estimated difference [95% confidence interval (CI)]: 2.3 [0.1, 4.5] ml; p = 0.042) and lower serum testosterone levels (estimated difference: 131 [25, 227] dL; p = 0.009), with five users showing testosterone levels below 200 ng/dL despite abstinence from AAS for 3–26 months. Untreated former users also displayed significantly lower scores on the IIEF Sexual Desire subscale (estimated difference: 2.4 [1.3, 3.5] points on a 10-point scale; p treatment. Conclusions Among long-term anabolic-androgenic steroid misusers, anabolic-androgenic steroid-withdrawal hypogonadism appears to be common, frequently prolonged, and associated with substantial morbidity. PMID:25598171

  11. Targeted Disruption of ALK Reveals a Potential Role in Hypogonadotropic Hypogonadism

    Science.gov (United States)

    Nord, Christoffer; Ahlgren, Ulf; Eriksson, Maria; Vernersson-Lindahl, Emma; Helland, Åslaug; Alexeyev, Oleg A.; Hallberg, Bengt; Palmer, Ruth H.

    2015-01-01

    Mice lacking ALK activity have previously been reported to exhibit subtle behavioral phenotypes. In this study of ALK of loss of function mice we present data supporting a role for ALK in hypogonadotropic hypogonadism in male mice. We observed lower level of serum testosterone at P40 in ALK knock-out males, accompanied by mild disorganization of seminiferous tubules exhibiting decreased numbers of GATA4 expressing cells. These observations highlight a role for ALK in testis function and are further supported by experiments in which chemical inhibition of ALK activity with the ALK TKI crizotinib was employed. Oral administration of crizotinib resulted in a decrease of serum testosterone levels in adult wild type male mice, which reverted to normal levels after cessation of treatment. Analysis of GnRH expression in neurons of the hypothalamus revealed a significant decrease in the number of GnRH positive neurons in ALK knock-out mice at P40 when compared with control littermates. Thus, ALK appears to be involved in hypogonadotropic hypogonadism by regulating the timing of pubertal onset and testis function at the upper levels of the hypothalamic-pituitary gonadal axis. PMID:25955180

  12. Pneumothorax and idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Iwasawa, Tae; Ogura, Takashi; Takahashi, Hiroshi; Asakura, Akira; Gotoh, Toshiyuki; Yazawa, Takuya; Inoue, Tomio

    2010-01-01

    We evaluated the relation between the severity of idiopathic pulmonary fibrosis (IPF) and the incidence of pneumothorax on computed tomography (CT) images. In this retrospective study, we evaluated the presence of pneumothorax in 56 consecutive patients who died of IPF from the initial CT to death. We quantitatively analyzed a total of 207 CT images and measured the volume of the normal pattern (N-pattern) and each lesion pattern on the initial CT and their serial changes. The effects of pneumothorax and clinical and CT features on survival were evaluated using Cox regression analysis. Pneumothorax occurred in 17 of 56 patients. Comparison of the pneumothorax (+) and (-) groups showed the initial vital capacity (VC) was lower (P=0.005) and the follow-up period was shorter (P=0.03) in the former group. The decrease in the N-pattern volume in the pneumothorax (+) group was significantly faster than in the pneumothorax (-) group (P=0.013). Cox regression analyses identified a rapid decrease in N-pattern volume (P=0.008) and a rapid decrease in VC (P=0.002), but not pneumothorax, as significant predictors of poor survival. Pneumothorax in IPF patients is associated with lower VC and rapid deterioration of CT findings. The findings suggest that pneumothorax is a complication of advanced IPF. (author)

  13. Idiopathic aneurysm of pulmonary artery

    Energy Technology Data Exchange (ETDEWEB)

    Pacheco, Julio B. Cota; Pimentel, Patricia N.; Knust, Beatriz S., E-mail: jcota@uol.com.br [Clinica de Cardiologia Cota Pacheco, Mogi das Cruzes, SP (Brazil)

    2015-07-15

    Because it is a very rare isolated lesion, we decided to present this case of idiopathic pulmonary artery aneurysm (IPAA) and review the cases published in the literature in order to correlate our clinical and imaging findings, as well as management based on patient data. IPAA was first described in a case of autopsy by Bristowe in 1860 and later in 1947 by Deterling and Claggett, whose prevalence was lower than eight to one hundred thousand. Although the use of diagnostic imaging methods has been applied in a very large population in recent decades, this lesion has been most often described in postmortem examinations. Therefore, it is important to be aware of possible clinical symptoms, at times non-specific, as well as the signs on imaging studies. In this study, therefore, the report of a case of an asymptomatic patient whose diagnosis was done through color Doppler echocardiography in a routine test in 2012, later confirmed by simple chest computed tomography (chest CT) and cardiac catheterization as IPAA and its branches. We discussed the literature available and the possibilities for treatment and the use of color Doppler echocardiography as an initial diagnostic tool for such a rare and intriguing disease. (author)

  14. Prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo-related ischemic stroke in a young adult.

    Science.gov (United States)

    Varoglu, Asuman Orhan; Kocatürk, Idris; Tatar, Abdulgani

    2010-06-01

    Cerebral infarction is a rare neurological situation in young adults, usually caused by genetic factors. We report here a case of multiple cerebral infarctions with prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo as a first case report. A 17-year-old female adolescent was admitted to our clinic due to a change in mental status. The patient's neurological examination revealed loss of consciousness and the presence of tetraparesia. Generalized vitiligo was also detected. Magnetic resonance imaging (MRI) and diffusion-weighted investigations (DWIs) showed acute ischemic stroke in the bilateral cerebellum, pons and left occipital regions. Heterozygote prothrombin G20210A mutation was found upon genetic examination. She had never had a menstrual cycle. Laboratory data revealed that the level of luteinizing hormone (LH) was 0.5 mIU/mL (1.1-11.6) and follicle-stimulating hormone (FSH) was 1.7 mIU/mL (2.8-11.3). Therefore, she was diagnosed with hypogonadotropic hypogonadism. The causes of ischemic stroke are heterozygote prothrombin G20210A mutation, generalized vitiligo, and hypogonadotropic hypogonadism. After treatment, the patient's neurological deficit partially improved and she was discharged. In order to identify the etiology of ischemic stroke, we suggest physicians take into account heterozygote prothrombin G20210A mutation and endocrine abnormalities, especially hypogonadotropic hypogonadism and generalized vitiligo.

  15. Testosterone replacement alters the cell size in visceral fat but not in subcutaneous fat in hypogonadal aged male rats as a late-onset hypogonadism animal model

    Directory of Open Access Journals (Sweden)

    Abdelhamed A

    2015-03-01

    Full Text Available Amr Abdelhamed,1,2 Shin-ichi Hisasue,1 Masato Shirai,3 Kazuhito Matsushita,1 Yoshiaki Wakumoto,1 Akira Tsujimura,1 Taiji Tsukamoto,4 Shigeo Horie1 1Department of Urology, Juntendo University, Graduate School of Medicine, Tokyo, Japan; 2Department of Dermatology, Venereology and Andrology, Sohag University, Graduate School of Medicine, Sohag, Egypt; 3Department of Urology, Juntendo University Urayasu Hospital, Urayasu, Japan; 4Department of Urology, School of Medicine, Sapporo Medical University, Sapporo, Japan Background: Patients with late-onset hypogonadism (LOH benefit from testosterone replacement by improvement in the parameters of the metabolic syndrome, but fat cell morphology in these patients is still unclear. This study aims to determine the effect of testosterone replacement on the morphology of fat cells in subcutaneous and visceral adipose tissue and on erectile function in hypogonadal aged male rats as a model of LOH. Methods: Ten male Sprague-Dawley rats aged 20–22 months were randomly allocated to two groups, ie, aged male controls (control group, n=5 and aged males treated with testosterone replacement therapy (TRT group, n=5. Testosterone enanthate 25 mg was injected subcutaneously every 2 weeks for 6 weeks. At 6 weeks, the intracavernous pressure (ICP and mean arterial blood pressure (MAP ratio was assessed. Visceral and subcutaneous adipose tissue specimens were collected and analyzed using Image-J software. Results: Body weight at 2, 4, and 6 weeks after TRT was 800.0±35.4 g, 767.5±46.3 g, and 780±40.4 g, respectively (not statistically significant. The ICP/MAP ratio was 0.341±0.015 in the TRT group and 0.274±0.049 in the control group (not statistically significant. The median subcutaneous fat cell size was 4.85×103 (range 0.85–12.53×103 µm2 in the control group and 4.93×103 (range 6.42–19.7×103 µm2 in the TRT group (not statistically significant. In contrast, median visceral fat cell size was significantly

  16. Total fertilization failure and idiopathic subfertility

    Directory of Open Access Journals (Sweden)

    Goverde Angelique J

    2009-01-01

    Full Text Available Abstract Background To gain more insight in whether failure of intrauterine insemination (IUI treatment in patients with idiopathic subfertility could be related to diminished fertilization, the aim of this study is to compare the fertilization of an initial IVF procedure after six cycles of IUI and the fertilization of an initial IVF procedure without preceding IUI cycles in couples with idiopathic subfertility. Methods We performed a complimentary analysis of a randomized controlled trial, in which the number of total fertilization failure (TFF in the first IVF procedure after unsuccessful IUI was compared to those of IVF without preceding IUI in patients with idiopathic subfertility. These patients participated in a previous study that assessed the cost effectiveness of IUI versus IVF in idiopathic subfertility and were randomized to either IUI or IVF treatment. Results 45 patients underwent IVF after 6 cycles of unsuccessful IUI and 58 patients underwent IVF immediately without preceding IUI. In 7 patients the IVF treatment was cancelled before ovum pick. In the IVF after unsuccessful IUI group TFF was seen in 2 of the 39 patients (5% versus 7 of the 56 patients (13% in the immediate IVF group. After correction for confounding factors the TFF rate was not significantly different between the two groups (p = 0.08, OR 7.4; 95% CI: 0.5–14.9. Conclusion Our data showed that TFF and the fertilization rate in the first IVF treatment were not significantly different between couples with idiopathic subfertility undergoing IVF after failure of IUI versus those couples undergoing IVF immediately without prior IUI treatment. Apparently, impaired fertilization does not play a significant role in the success rate of IUI in patients with idiopathic subfertility.

  17. Management strategies for idiopathic urethritis.

    Science.gov (United States)

    Henderson, L; Farrelly, P; Dickson, A P; Goyal, A

    2016-02-01

    Williams and Mikhael (1971) described idiopathic urethritis (IU) as a self-limiting condition that affects boys aged 5-15 years, with symptoms of urethrorrhagia, dysuria and haematuria. However, a proportion of boys will remain symptomatic for several years, and may develop urethral stricture (Poch et al., 2007; Palagiri et al., 2003). There is no universally effective treatment for IU, although various strategies have been employed. To review the presentation and long-term outcomes of boys with IU, and present the efficacy of management strategies that have been utilised. A retrospective review was performed of all boys with IU. It was based on clinical and cystoscopic findings for presentation, medical history, management and clinical progress. Fifty-four boys were included, with a median age of 11 years (range 5-15 years) at presentation. The median duration of symptoms was 18 months (range 2-132 months). The median follow-up was 18.5 months (range 1-120 months). Seven (13.0%) boys had early urethral stricture at initial cystourethroscopy, and one (1.9%) developed stricture during follow-up. Thirty-six boys (66.7%) had previous circumcision and four (7.4%) had meatal stenosis. Eight (14.8%) had previous hypospadias repair. Whilst 50% of boys with IU do not require any specific treatment, those with severe/unremitting symptoms may benefit from a trial of urethral steroids or short-term urethral catheterisation. The mechanisms of benefit from these modalities are unclear and they require further evaluation. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  18. Idiopathic thoracic transdural intravertebral spinal cord herniation

    Directory of Open Access Journals (Sweden)

    Mazda K Turel

    2017-01-01

    Full Text Available Idiopathic spinal cord herniation is a rare and often missed cause of thoracic myelopathy. The clinical presentation and radiological appearance is inconsistent and commonly confused with a dorsal arachnoid cyst and often is a misdiagnosed entity. While ventral spinal cord herniation through a dural defect has been previously described, intravertebral herniation is a distinct entity and extremely rare. We present the case of a 70-year old man with idiopathic thoracic transdural intravertebral spinal cord herniation and discuss the clinico-radiological presentation, pathophysiology and operative management along with a review the literature of this unusual entity.

  19. MOSH Syndrome (Male Obesity Secondary Hypogonadism): Clinical Assessment and Possible Therapeutic Approaches.

    Science.gov (United States)

    De Lorenzo, Antonino; Noce, Annalisa; Moriconi, Eleonora; Rampello, Tiziana; Marrone, Giulia; Di Daniele, Nicola; Rovella, Valentina

    2018-04-12

    Male obesity secondary hypogonadism (MOSH) impairs fertility, sexual function, bone mineralization, fat metabolism, cognitive function, deteriorates muscle mass and alters body composition. The aim of this pilot study was to evaluate the effect of dietary intervention and physical activity on the MOSH patient's hormonal profile after a 10% weight loss compared to baseline. Fourteen male patients were enrolled. Hormonal, lipid, glycemic profiles and body composition were determined at baseline and after a 10% weight loss. Aging Male Symptoms Scale (AMS) and Yale Food Addiction Scale (YFAS) were administered to patients in order to investigate hypogonadal symptoms and food addiction. Compared to baseline, a significant increase of Total Testosterone (TT) (300.2 ± 79.5 ng/dL vs. 408.3 ± 125.9 ng/dL, p = 0.002, 95% CI 26.8; 167.7) and a reduction of 17-Beta Estradiol level (48.3 ± 14.9 pg/mL vs. 39.2 ± 15.2 pg/mL, p = 0.049, 95% CI 3.1; 0.0) were observed. Total Fat Mass (FM) percentage, android and gynoid fat mass percentage (39.2 ± 6.4% vs. 36.2 ± 5.8%, p = 0.0001, 95% CI 22.5; 62.3; 51.5 ± 6.8% vs. 47.6 ± 6.8%, p = 0.001, 95% CI 0.6; 1.8, vs. 39.2 ± 6.2% vs. 36.5 ± 6.3% p = 0.0001, 95% CI 0.9; 2.0 respectively) were significantly decreased after nutritional intervention. In addition, total Fat Free Mass (FFM) in kg was significantly reduced after 10% weight loss (62.3 ± 2.8 kg vs. 60.3 ± 7.7 kg, p = 0.002, 95% CI 45.0; 93.0). Lifestyle changes, specifically dietotherapy and physical activity, induce positive effects on hypogonadism due to obesity.

  20. Growth hormone deficiency and central hypogonadism in retired professional football players

    Directory of Open Access Journals (Sweden)

    Gábor László Kovács

    2016-12-01

    Full Text Available Purpose: The aim of this cross-sectional study was to evaluate the possible impact of multiple mild head traumas sustained during a long-term football career on the presence of central hypogonadism and growth hormone (GH deficiency. Methods: Twenty-seven retired, former professional male football players were investigated. All subjects were assessed for serum levels of insulin-like growth factor (IGF-1, luteinizing hormone (LH and total testosterone (TT. Quality of life was quantified using the Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA questionnaire. Results: Subjects had a median age of 48.0 (42.0 – 53.0 years and a median football career of 29.0 years (22.0 – 32.0. One subject had central hypogonadism and none had growth hormone deficiency. Nine subjects reported sport-related head injuries. We found a negative correlation between sport-related head injuries and serum LH (p = -0.459, P = 0.016. Subjects with a history of sport-related head injury had a median LH of 3.3 U/L (2.7 – 3.6, while those without a history of sport-related head injury had a median LH of 4.1 (U/L (3.6 – 5.7, P = 0.017. However, there were no differences in other hormones between the two groups. Moreover, we did not find any correlation between the duration of the player’s career nor their field position with hormone profiles or QoL-AGHDA. Conclusion: Although retired footfall players with a history of sport-related head injury had lower LH levels, we did not find strong evidence of an increased prevalence of central hypogonadism or GH deficiency in these patients. Our results suggest that a long-term football career, which includes headings and repetitive mild head traumas, does not damage the most vulnerable anterior pituitary cells.

  1. Is testosterone replacement therapy in males with hypogonadism cost-effective? An analysis in Sweden.

    Science.gov (United States)

    Arver, Stefan; Luong, Ba; Fraschke, Anina; Ghatnekar, Ola; Stanisic, Sanja; Gultyev, Dmitry; Müller, Elvira

    2014-01-01

    Testosterone replacement therapy (TRT) has been recommended for the treatment of primary and secondary hypogonadism. However, long-term implications of TRT have not been investigated extensively. The aim of this analysis was to evaluate health outcomes and costs associated with life-long TRT in patients suffering from Klinefelter syndrome and late-onset hypogonadism (LOH). A Markov model was developed to assess cost-effectiveness of testosterone undecanoate (TU) depot injection treatment compared with no treatment. Health outcomes and associated costs were modeled in monthly cycles per patient individually along a lifetime horizon. Modeled health outcomes included development of type 2 diabetes, depression, cardiovascular and cerebrovascular complications, and fractures. Analysis was performed for the Swedish health-care setting from health-care payer's and societal perspective. One-way sensitivity analyses evaluated the robustness of results. The main outcome measures were quality-adjusted life-years (QALYs) and total cost in TU depot injection treatment and no treatment cohorts. In addition, outcomes were also expressed as incremental cost per QALY gained for TU depot injection therapy compared with no treatment (incremental cost-effectiveness ratio [ICER]). TU depot injection compared to no-treatment yielded a gain of 1.67 QALYs at an incremental cost of 28,176 EUR (37,192 USD) in the Klinefelter population. The ICER was 16,884 EUR (22,287 USD) per QALY gained. Outcomes in LOH population estimated benefits of TRT at 19,719 EUR (26,029 USD) per QALY gained. Results showed to be considerably robust when tested in sensitivity analyses. Variation of relative risk to develop type 2 diabetes had the highest impact on long-term outcomes in both patient groups. This analysis suggests that lifelong TU depot injection therapy of patients with hypogonadism is a cost-effective treatment in Sweden. Hence, it can support clinicians in decision making when considering

  2. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

    Science.gov (United States)

    Stark, Zornitza; Storen, Rebecca; Bennetts, Bruce; Savarirayan, Ravi; Jamieson, Robyn V

    2011-07-01

    Isolated hypogonadotropic hypogonadism (IHH) is a genetically heterogeneous condition in which patients frequently require assisted reproduction to achieve fertility. In patients with IHH who are otherwise well, no particular increased risk of congenital anomalies in the resultant offspring has been highlighted. Heterozygous mutations in SOX2 are the commonest single-gene cause of anophthalmia/microphthalmia (A/M) and sometimes result in pituitary abnormalities. We report a family with a novel frameshift mutation in the SOX2 transactivation domain, p.Gly280AlafsX91, resulting in bilateral anophthalmia and subtle endocrinological abnormalities in a male sibling, and unilateral microphthalmia in a female sibling. The mutation is present in their mother who has IHH, but has no eye disorders or other anomalies. She underwent assisted reproduction to achieve fertility. This report has important implications for the evaluation of patients with IHH, particularly in the setting of planned infertility treatment.

  3. Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

    Science.gov (United States)

    Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

    2016-12-01

    Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  4. Outcomes of androgen replacement therapy in adult male hypogonadism: recommendations from the Italian society of endocrinology.

    Science.gov (United States)

    Isidori, A M; Balercia, G; Calogero, A E; Corona, G; Ferlin, A; Francavilla, S; Santi, D; Maggi, M

    2015-01-01

    We developed clinical practice guidelines to assess the individual risk-benefit profile of androgen replacement therapy in adult male hypogonadism (HG), defined by the presence of specific signs and symptoms and serum testosterone (T) below 12 nmol/L. The task force consisted of eight clinicians experienced in treating HG, selected by the Italian Society of Endocrinology (SIE). The authors received no corporate funding or remuneration. Consensus was guided by a systematic review of controlled trials conducted on men with a mean T treatments for individuals at high risk for complications, such as those with osteoporosis and/or metabolic disorders. We recommend against using TS to improve cardiac outcome and limited mobility. We recommend against using TS in men with prostate cancer, unstable cardiovascular conditions or elevated haematocrit. The task force places a high value on the timely treatment of younger and middle-aged subjects to prevent the long-term consequences of hypoandrogenism.

  5. Psychometric Evaluation of the Hypogonadism Impact of Symptoms Questionnaire Short Form (HIS-Q-SF).

    Science.gov (United States)

    Gelhorn, Heather L; Roberts, Laurie J; Khandelwal, Nikhil; Revicki, Dennis A; DeRogatis, Leonard R; Dobs, Adrian; Hepp, Zsolt; Miller, Michael G

    2017-08-01

    The Hypogonadism Impact of Symptoms Questionnaire Short Form (HIS-Q-SF) is a patient-reported outcome measurement designed to evaluate the symptoms of hypogonadism. The HIS-Q-SF is an abbreviated version including17 items from the original 28-item HIS-Q. To conduct item analyses and reduction, evaluate the psychometric properties of the HIS-Q-SF, and provide guidance on score interpretation. A 12-week observational longitudinal study of hypogonadal men was conducted as part of the original HIS-Q psychometric evaluation. Participants completed the original HIS-Q every 2 weeks. Blood samples were collected to evaluate testosterone levels. Participants completed the Aging Male's Symptoms Scale, the International Index of Erectile Function, the Short Form-12, and the PROMIS Sexual Activity, Satisfaction with Sex Life, Sleep Disturbance, and Applied Cognition Scales (baseline and weeks 6 and 12). Clinicians completed the Clinical Global Impression of Severity and Change scales and a clinical form. Item performance was evaluated using descriptive statistics and Rasch analyses. Reliability (internal consistency and test-retest), validity (concurrent and know groups), and responsiveness were assessed. One hundred seventy-seven men participated (mean age = 54.1 years, range = 23-83). Similar to the full HIS-Q, the final abbreviated HIS-Q-SF instrument includes five domains (sexual, energy, sleep, cognition, and mood) with two sexual subdomains (libido and sexual function). For key domains, test-retest reliability was very good, and construct validity was good for all domains. Known-groups validity was demonstrated for all domain scores, subdomain scores, and total score based on the Clinical Global Impression-Severity. All domains and subdomains were responsive to change based on patient-rated anchor questions. The HIS-Q-SF could be a useful tool in clinical practice, epidemiologic studies, and other academic research settings. Careful consideration was given to the

  6. Exercises for adolescent idiopathic scoliosis.

    Science.gov (United States)

    Romano, Michele; Minozzi, Silvia; Bettany-Saltikov, Josette; Zaina, Fabio; Chockalingam, Nachiappan; Kotwicki, Tomasz; Maier-Hennes, Axel; Negrini, Stefano

    2012-08-15

    Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine . While AIS can progress during growth and cause a surface deformity, it is usually not symptomatic. However, in adulthood, if the final spinal curvature surpasses a certain critical threshold, the risk of health problems and curve progression is increased. The use of scoliosis-specific exercises (SSE) to reduce progression of AIS and postpone or avoid other more invasive treatments is controversial. To evaluate the efficacy of SSE in adolescent patients with AIS. The following databases (up to 30 March 2011) were searched with no language limitations: CENTRAL (The Cochrane Library 2011, issue 2), MEDLINE (from January 1966), EMBASE (from January 1980), CINHAL (from January 1982), SportDiscus (from January 1975), PsycInfo (from January 1887), PEDro (from January 1929). We screened reference lists of articles and also conducted an extensive handsearch of grey literature. Randomised controlled trials and prospective cohort studies with a control group comparing exercises with no treatment, other treatment, surgery, and different types of exercises. Two review authors independently selected studies, assessed risk of bias and extracted data. Two studies (154 participants) were included. There is low quality evidence from one randomised controlled study that exercises as an adjunctive to other conservative treatments increase the efficacy of these treatments (thoracic curve reduced: mean difference (MD) 9.00, (95% confidence interval (CI) 5.47 to 12.53); lumbar curve reduced:MD 8.00, (95% CI 5.08 to 10.92)). There is very low quality evidence from a prospective controlled cohort study that scoliosis-specific exercises structured within an exercise programme can reduce brace prescription (risk ratio (RR) 0.24, (95% CI 0.06 to1.04) as compared to usual physiotherapy (many different kinds of general exercises according to the preferences of the single therapists within different facilities

  7. Idiopathic intracranial hypertension: case report

    Directory of Open Access Journals (Sweden)

    Iacob G.

    2015-12-01

    Full Text Available Idiopathic intracranial hypertension - IIH (synonymous old terms: benign intracranial hypertension - BIH, pseudotumor-cerebri - PTC it’s a syndrome, related to elevated intracranial pressure, of unknown cause, sometimes cerebral emergency, occuring in all age groups, especially in children and young obese womans, in the absence of an underlying expansive intracranial lesion, despite extensive investigations. Although initial symptoms can resolve, IIH displays a high risk of recurrence several months or years later, even if initial symptoms resolved. Results: A 20-year-old male, obese since two years (body mass index 30, 9, was admitted for three months intense headache, vomiting, diplopia, progressive visual acuity loss. Neurologic examination confirmed diplopia by left abducens nerve palsy, papilledema right > left. At admission, cerebral CT scan and cerebral MRI with angio MRI 3DTOF and 2D venous TOF was normal. Despite treatment with acetazolamide (Diamox, corticosteroid, antidepressants (Amitriptyline, anticonvulsivants (Topiramate three weeks later headache, diplopia persist and vision become worse, confirmed by visual field assessment, visual evoked potential (VEP. A cerebral arteriography demonstrate filling defect of the superior sagittal sinus in the 1/3 proximal part and very week filling of the transverse right sinus on venous time. Trombophylic profile has revealed a heterozygote V factor Leyden mutation, a homozygote MTHFR and PAI mutation justifying an anticoagulant treatment initiated to the patient. The MRI showed a superior sagittal sinus, right transverse and sigmoid sinus thrombosis, dilatation and buckling of the optic nerve sheaths with increased perineural fluid especially retrobulbar, discrete flattening of the posterior segment of the eyeballs, spinal MRI showed posterior epidural space with dilated venous branches, with mass effect on the spinal cord, that occurs pushed anterior on sagittal T1/T2 sequences cervical and

  8. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...

  9. Idiopathic intracranial hypertension and transverse sinus stenoses

    DEFF Research Database (Denmark)

    Skyrman, Simon; Fytagoridis, Anders; Andresen, Morten

    2013-01-01

    An 18-year-old woman was diagnosed with idiopathic intracranial hypertension (IIH) and bilateral transverse sinus stenoses (TSS), after presenting with papilledema and decreased visual acuity. Lumbar puncture revealed an opening pressure of >60 cm H2O. MRI showed bilateral TSS believed to be asso...

  10. Exercise therapy in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Takken, T.; van Brussel, M.; Engelbert, R. H. H.; van der Net, J.; Kuis, W.; Helders, P. J. M.

    2008-01-01

    Exercise therapy is considered an important component of the treatment of arthritis. The efficacy of exercise therapy has been reviewed in adults with rheumatoid arthritis but not in children with juvenile idiopathic arthritis (JIA). To assess the effects of exercise therapy on functional ability,

  11. Idiopathic trigeminal neuropathy in a poodle

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Aparicio

    2010-12-01

    Full Text Available A seven years old, male poodle is examined presenting acute mandible paralysis (dropped jaw, drooling and difficulty for the apprehension and chewing; not evidence of an other alteration of cranial nerves. The muscular biopsy rules out a myositisof masticatory muscles. The disorder is resolved completely in 3 weeks confirming diagnosis of idiopathic trigeminal neuropathy.

  12. Biological agents in polyarticular juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Amarilyo, Gil; Tarp, Simon; Foeldvari, Ivan

    2016-01-01

    BACKGROUND AND OBJECTIVE: Although various biological agents are in use for polyarticular juvenile idiopathic arthritis (pJIA), head-to-head trials comparing the efficacy and safety among them are lacking. We aimed to compare the efficacy and safety of biological agents in pJIA using all currently...

  13. GENETIC PREDICTORS OF IDIOPATHIC SICK SINUS SYNDROME

    Directory of Open Access Journals (Sweden)

    A. A. Chernova

    2012-01-01

    Full Text Available Published data demonstrating genetic determination of sick sinus syndrome is presented. The definition of this pathology is presented; the main symptoms are described, as well as genes that influence the development of idiopathic sick sinus syndrome, their polymorphisms and role in disorders of the cardiovascular system.

  14. Acute surgical management in idiopathic intracranial hypertension.

    LENUS (Irish Health Repository)

    Zakaria, Zaitun

    2012-01-01

    Idiopathic intracranial hypertension is a headache syndrome with progressive symptoms of raised intracranial pressure. Most commonly, it is a slow process where surveillance and medical management are the main treatment modalities. We describe herein an acute presentation with bilateral sixth nerve palsies, papilloedema and visual deterioration, where acute surgical intervention was a vision-saving operation.

  15. Histological characteristics of diffuse idiopathic skeletal hyperostosis

    NARCIS (Netherlands)

    Kuperus, JS; Westerveld, L Anneloes; Rutges, Joost A; Alblas, Jacqueline; van Rijen, Mattie H; Bleys, Ronald L A W; Oner, F Cumhur; Verlaan, JJ

    Diffuse idiopathic skeletal hyperostosis (DISH) is a predominantly radiographic diagnosis and histological knowledge of DISH is limited. The aim of this study was to describe the histological characteristics of DISH in the spinal column and to study the relation between DISH and intervertebral disc

  16. Pirfenidone treatment in idiopathic pulmonary fibrosis

    DEFF Research Database (Denmark)

    Salih, Goran Nadir; Shaker, Saher Burhan; Madsen, Helle Dall

    2016-01-01

    BACKGROUND: Pirfenidone was approved by the European Medicines Agency and introduced in most European countries in 2011 for treatment of idiopathic pulmonary fibrosis (IPF). OBJECTIVE: To describe the national Danish experiences of pirfenidone treatment for IPF during 30 months with respect...

  17. Diffuse idiopathic skeletal hyperostosis in ancient clergymen.

    NARCIS (Netherlands)

    Verlaan, J.J.; Oner, F.C.; Maat, G.J.

    2007-01-01

    Diffuse idiopathic skeletal hyperostosis (DISH) is a common but often unrecognized systemic disorder observed mainly in the elderly. DISH is diagnosed when the anterior longitudinal ligament of the spine is ossified on at least four contiguous spinal levels or when multiple peripheral enthesopathies

  18. Diffuse idiopathic skeletal hyperostosis in ancient clergymen

    NARCIS (Netherlands)

    Verlaan, J.J.; Oner, F.C.; Maat, G.R.J.

    2007-01-01

    Diffuse idiopathic skeletal hyperostosis (DISH) is a common but often unrecognized systemic disorder observed mainly in the elderly. DISH is diagnosed when the anterior longitudinal ligament of the spine is ossified on at least four contiguous spinal levels or when multiple peripheral

  19. Drug therapy for chronic idiopathic axonal polyneuropathy

    NARCIS (Netherlands)

    Warendorf, Janna; Vrancken, Alexander F.J.E.; van Schaik, Ivo N.; Hughes, Richard A.C.; Notermans, Nicolette C.

    2017-01-01

    Background: Chronic idiopathic axonal polyneuropathy (CIAP) is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, CIAP reduces quality of life. CIAP is diagnosed in 10% to 25% of people referred for

  20. Drug therapy for chronic idiopathic axonal polyneuropathy

    NARCIS (Netherlands)

    Warendorf, Janna; Vrancken, Alexander F. J. E.; van Schaik, Ivo N.; Hughes, Richard A. C.; Notermans, Nicolette C.

    2017-01-01

    Chronic idiopathic axonal polyneuropathy (CIAP) is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, CIAP reduces quality of life. CIAP is diagnosed in 10% to 25% of people referred for evaluation of

  1. Acute Lymphoblastic Leukaemia presenting as Juvenile Idiopathic ...

    African Journals Online (AJOL)

    Background: Acute Lymphoblastic Leukaemia in children commonly presents with osteo articular manifestations that may mimic Juvenile Idiopathic Arthritis. This may create considerable diagnostic difficulty and lead to delay in commencing appropriate treatment. Case: An eight year old boy who presented with multiple ...

  2. Contemporary Management of Idiopathic Laryngotracheal Stenosis.

    Science.gov (United States)

    Donahoe, Laura; Keshavjee, Shaf

    2018-05-01

    Idiopathic laryngotracheal stenosis is a rare but well-described indication for subglottic tracheal resection. Initially described by Pearson in 1975, the 1-stage subglottic tracheal resection with reconstruction of the airway ensures preservation of the recurrent laryngeal nerves while resulting in an effective and durable repair of the stenosis. Copyright © 2018 Elsevier Inc. All rights reserved.

  3. Unusual Presentation Of Idiopathic Retroperitoneal Fibrosis: Case ...

    African Journals Online (AJOL)

    Idiopathic retroperitoneal fibrosis (IRF) is an uncommon entity described as progressive proliferation of connective tissues leading to a fibrous plaque-like lesions that encases the aorta and inferior vena cava inferior to the level of the renal arteries. Mass forming retroperitoneal fibrosis is rare. We present a rare case of a ...

  4. Late-onset hypogonadism: current concepts and controversies of pathogenesis, diagnosis and treatment.

    Science.gov (United States)

    Huhtaniemi, Ilpo

    2014-01-01

    Although suppressed serum testosterone (T) is common in ageing men, only a small proportion of them develop the genuine syndrome of low T associated with diffuse sexual (e.g., erectile dysfunction), physical (e.g. loss of vigor and frailty) and psychological (e.g., depression) symptoms. This syndrome carries many names, including male menopause or climacterium, andropause and partial androgen deficiency of the ageing male (PADAM). Late-onset hypogonadism (LOH) describes it best and is therefore generally preferred. The decrease of T in LOH is often marginal, and hypogonadism can be either due to primary testicular failure (low T, high luteinizing hormone (LH)) or secondary to a hypothalamic-pituitary failure (low T, low or inappropriately normal LH). The latter form is more common and it is usually associated with overweight/obesity or chronic diseases (e.g., type 2 diabetes mellitus, the metabolic syndrome, cardiovascular and chronic obstructive pulmonary disease, and frailty). A problem with the diagnosis of LOH is that often the symptoms (in 20%-40% of unselected men) and low circulating T (in 20% of men >70 years of age) do not coincide in the same individual. The European Male Ageing Study (EMAS) has recently defined the strict diagnostic criteria for LOH to include the simultaneous presence of reproducibly low serum T (total T treatment of comorbid diseases. T replacement is widely used for the treatment, but evidence-based information about its real benefi ts and short- and long-term risks, is not yet available. In this review, we will summarize the current concepts and controversies in the pathogenesis, diagnosis and treatment of LOH.

  5. Prevention of CCl4 induced hypogonadism with Raphanus sativus seeds in rat.

    Science.gov (United States)

    Tabassum, Farhana; Khan, Muhammad Rashid

    2017-03-01

    Raphanus sativus seeds are used as condiment and to treat hypogonadism, various ailments of liver and kidneys. The aim of this study was to evaluate the potential protective effects of methanol extract of R. sativus seeds (RSME) against hypogonadism induced with carbon tetrachloride (CCl 4 ) in Sprague-Dawley male rats. Thirty six rats were divided in to six groups with six animals in each. Animals of Group I were control and treated with saline, Group II, III and IV were given orally CCl 4 (1 ml/kg bw; 10% in corn oil). Rats of Group III and IV were also simultaneously given RSME at 100 mg/kg bw and 200 mg/kg bw respectively. However, Group V and VI received RSME (100; 200 mg/kg bw, respectively) alone. All treatments were given at alternate days for 15 days. Treatment of CCl4 to rats decreased (P < 0.001) the level of CAT, POD, SOD, GST, GSH-Px and GSR antioxidant enzymes in testes of rat. Concentration of lipid peroxides (TBARS) was increased (P < 0.001) whereas concentration of GSH was decreased (P < 0.001) in testes of CCl4 treated animals. Concentration of testosterone, FSH and LH in serum was decreased (P < 0.001) while the level of estradiol and prolactin was increased (P < 0.001) in CCl4 treated rats. Injuries in seminiferous tubules were determined in histopathology of testes. Administration of RSME, dose dependently, markedly ameliorated the oxidative stress of CCl4 thereby restoring the level of antioxidant enzymes, lipid peroxides, reduced glutathione, male hormones and alterations in histopathology.

  6. Optimal management of idiopathic scoliosis in adolescence

    Directory of Open Access Journals (Sweden)

    Kotwicki T

    2013-07-01

    Full Text Available Tomasz Kotwicki,1 Joanna Chowanska,1,2 Edyta Kinel,3 Dariusz Czaprowski,4,5 Marek Tomaszewski,1 Piotr Janusz1 1Department of Pediatric Orthopedics, University of Medical Sciences, Poznan, Poland; 2National Scoliosis Foundation, Stoughton, MA, USA; 3Department of Rehabilitation, University of Medical Sciences, Poznan Poland; 4Department of Physiotherapy, Józef Rusiecki University College, Olsztyn, 5Rehasport Clinic, Poznan, Poland Abstract: Idiopathic scoliosis is a three-dimensional deformity of the growing spine, affecting 2%–3% of adolescents. Although benign in the majority of patients, the natural course of the disease may result in significant disturbance of body morphology, reduced thoracic volume, impaired respiration, increased rates of back pain, and serious esthetic concerns. Risk of deterioration is highest during the pubertal growth spurt and increases the risk of pathologic spinal curvature, increasing angular value, trunk imbalance, and thoracic deformity. Early clinical detection of scoliosis relies on careful examination of trunk shape and is subject to screening programs in some regions. Treatment options are physiotherapy, corrective bracing, or surgery for mild, moderate, or severe scoliosis, respectively, with both the actual degree of deformity and prognosis being taken into account. Physiotherapy used in mild idiopathic scoliosis comprises general training of the trunk musculature and physical capacity, while specific physiotherapeutic techniques aim to address the spinal curvature itself, attempting to achieve self-correction with active trunk movements developed in a three-dimensional space by an instructed adolescent under visual and proprioceptive control. Moderate but progressive idiopathic scoliosis in skeletally immature adolescents can be successfully halted using a corrective brace which has to be worn full time for several months or until skeletal maturity, and is able to prevent more severe deformity and avoid

  7. Hypogonadotropic hypogonadism

    Science.gov (United States)

    ... lack of sex hormones. This prevents normal sexual maturity in children and normal function of the testicles ... self-esteem due to late start of puberty (emotional support may be helpful) Sexual problems, such as ...

  8. Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism

    Directory of Open Access Journals (Sweden)

    Wen-Bo Wang

    2016-01-01

    Conclusions: The male IHH patients showed higher basal serum ACTH levels and lower cortisol levels than matched healthy controls. NAFLD was an independent associated factor for ACTH levels in male IHH patients. These preliminary findings provided evidence of the relationship between basal serum ACTH and NAFLD in male IHH patients.

  9. 病気の顔貌と容貌(10) : 男性性腺機能低下症(Male hypogonadism or Eunuchoidism)について

    OpenAIRE

    佐々木, 悠; 熊谷, 秋三; 二宮, 寛; 福島, 武雄; 上園, 慶子; 川崎, 晃一; 奥村, 恂

    1994-01-01

    Hypogonadism in the male can be defined as a decrease in either endocrine or spermatogenetic function of the testis or both. Its conditions are frequently classified as being either primary or secondary dependending upon the site of the defect. Primary hypogonadism associated with abnormality of the testis may be subdivided into two groups, these caused by genetic or developmental defects and those related to acquired conditions. On the other hand, secondary hypogonadism refers to hypogonadis...

  10. Optimal management of idiopathic scoliosis in adolescence

    Science.gov (United States)

    Kotwicki, Tomasz; Chowanska, Joanna; Kinel, Edyta; Czaprowski, Dariusz; Tomaszewski, Marek; Janusz, Piotr

    2013-01-01

    Idiopathic scoliosis is a three-dimensional deformity of the growing spine, affecting 2%–3% of adolescents. Although benign in the majority of patients, the natural course of the disease may result in significant disturbance of body morphology, reduced thoracic volume, impaired respiration, increased rates of back pain, and serious esthetic concerns. Risk of deterioration is highest during the pubertal growth spurt and increases the risk of pathologic spinal curvature, increasing angular value, trunk imbalance, and thoracic deformity. Early clinical detection of scoliosis relies on careful examination of trunk shape and is subject to screening programs in some regions. Treatment options are physiotherapy, corrective bracing, or surgery for mild, moderate, or severe scoliosis, respectively, with both the actual degree of deformity and prognosis being taken into account. Physiotherapy used in mild idiopathic scoliosis comprises general training of the trunk musculature and physical capacity, while specific physiotherapeutic techniques aim to address the spinal curvature itself, attempting to achieve self-correction with active trunk movements developed in a three-dimensional space by an instructed adolescent under visual and proprioceptive control. Moderate but progressive idiopathic scoliosis in skeletally immature adolescents can be successfully halted using a corrective brace which has to be worn full time for several months or until skeletal maturity, and is able to prevent more severe deformity and avoid the need for surgical treatment. Surgery is the treatment of choice for severe idiopathic scoliosis which is rapidly progressive, with early onset, late diagnosis, and neglected or failed conservative treatment. The psychologic impact of idiopathic scoliosis, a chronic disease occurring in the psychologically fragile period of adolescence, is important because of its body distorting character and the onerous treatment required, either conservative or surgical

  11. Idiopathic facial pain related with dental implantation

    Directory of Open Access Journals (Sweden)

    Tae-Geon Kwon

    2016-06-01

    Full Text Available Chronic pain after dental implantation is rare but difficult issue for the implant practitioner. Patients with chronic pain who had been performed previous implant surgery or related surgical intervention sometimes accompany with psychological problem and difficult to adequately manage. According to the International Classification of Headache Disorders (ICHD 3rd eds, Cepalagia 2013, painful neuropathies and other facial pains are subdivided into the 12 subcategories; 13.1. Trigeminal neuralgia; 13.2 Glossopharyngeal neuralgia; 13.3 Nervus intermedius (facial nerve neuralgia; 13.4 Occipital neuralgia; 13.5 Optic neuritis; 13.6 Headache attributed to ischaemic ocular motor nerve palsy; 13.7 Tolosa-Hunt syndrome; 13.8 Paratrigeminal oculo-sympathetic (Raeder’s syndrome; 13.9 Recurrent painful ophthalmoplegic neuropathy; 13.10 Burning Mouth Syndrome (BMS; 13.11 Persistent Idiopathic Facial Pain (PIFP; 13.12 Central neuropathic pain. Chronic orofacial pain after dental implant surgery can be largely into the two main categories that can be frequently encountered in clinical basis ; 1 Neuropathic pain, 2 Idiopathic pain. If there is no direct evidence of the nerve injury related with the implant surgery, the clinician need to consider the central cause of pain instead of the peripheral cause of the pain. There might be several possibilities; 1 Anaesthesia dolorosa, 2 Central post-stroke pain, 3 Facial pain attributed to multiple sclerosis, 4 Persistent idiopathic facial pain (PIFP, 5 Burning mouth syndrome. In this presentation, Persistent idiopathic facial pain (PIFP, the disease entity that can be frequently encountered in the clinic would be discussed. Persistent idiopathic facial pain (PIFP can be defined as “persistent facial and/or oral pain, with varying presentations but recurring daily for more than 2 hours per day over more than 3 months, in the absence of clinical neurological deficit”. ‘Atypical’ pain is a diagnosis of

  12. Psychosexual Development in Men with Congenital Hypogonadotropic Hypogonadism on Long-Term Treatment: A Mixed Methods Study

    Directory of Open Access Journals (Sweden)

    Andrew A. Dwyer, MSN, FNP-BC

    2015-03-01

    Conclusions: CHH men frequently experience psychosexual problems that pose barriers to intimate relationships and initiating sexual activity. These lingering effects cause significant distress and are not ameliorated by long-term treatment. Psychosexual assessment in CHH men with appropriate psychological support and treatment should be warranted in these patients. Dwyer AA, Quinton R, Pitteloud N, and Morin D. Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: A mixed methods study. Sex Med 2015;3:32–41.

  13. Recommendations on the diagnosis, treatment and monitoring of late-onset hypogonadism in men - a suggested update.

    Science.gov (United States)

    Lunenfeld, Bruno; Mskhalaya, George; Kalinchenko, Svetlana; Tishova, Yulia

    2013-12-01

    Recommendations on the diagnosis, treatment and monitoring of late-onset hypogonadism (LOH) in men were first published by ISSAM in 2002 In 2005, and, in 2008, updated recommendations were published in the International Journal of Andrology, the Journal of Andrology, the Aging Male and European Urology. Towards discussions at the next ISSAM/ESSAM meeting in Moscow, 29 November 2013, we suggest the following update.

  14. [Osteoporosis fracture in a male patient secondary to hypogonadism due to androgen deprivation treatment for prostate cancer].

    Science.gov (United States)

    Verdú Solans, J; Roig Grau, I; Almirall Banqué, C

    2014-01-01

    A 84 year-old patient, in therapy with androgen deprivation during the last 5 years due a prostate cancer, is presented with a osteoporotic fracture of the first lumbar vertebra. The pivotal role of the primary care physician, in the prevention of the osteoporosis secondary to the hypogonadism in these patients, is highlighted. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  15. Retrospective panoramic radiographic analysis for idiopathic osteosclerosis in Indians

    Directory of Open Access Journals (Sweden)

    Srikanth H Srivathsa

    2016-01-01

    Full Text Available Introduction: Idiopathic osteosclerosis is an area of increased radiodensity observed on panoramic radiographs. The prevalence of this entity is not known, especially in Indians. Aims and Objectives: To determine the prevalence and epidemiological characteristics of idiopathic osteosclerosis. Materials and Methods: Six hundred and forty panoramic radiographs were retrospectively analyzed for the presence of idiopathic osteosclerosis by a single trained oral radiologist. Statistical Analysis: The data obtained were analyzed using Microsoft Excel (Version 2007 for Windows. Results: Idiopathic osteosclerosis was identified in 32 individuals with a prevalence of 5%. There were 21 female (65.7% and 11 male (34.3% participants. There were 31 single, unilateral (96.85% osteosclerotic lesions and 1 (3.15% bilateral lesion. Right side localization was noted in 19 participants (57.57% and left side localization in 14 participants (42.42%. Conclusion: This study illustrates the prevalence of idiopathic osteosclerosis in Indians. Further, it depicts the characteristics of idiopathic osteosclerotic lesions.

  16. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

    Energy Technology Data Exchange (ETDEWEB)

    Yanase, Toshihiko; Takayanagi, Ryoichi; Oba, Koichi [Kyushu Univ., Fukuoka (Japan)] [and others

    1996-02-01

    Congenital adrenal hypoplasia, an X-linked disorder, is characterized by primary adrenal insufficiency and frequent association with hypogonadotropic hypogonadism. The X-chromosome gene DAX-1 has been most recently identified and shown to be responsible for this disorder. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism by using PCR amplification of genomic DNA and its complete exonic sequencing. In a family containing several affected individuals, the proband male patient had a stop codon (TGA) in place of tryptophan (TGG) at amino acid position 171. As expected, his mother was a heterozygous carrier for the mutation, whereas his father and unaffected brother did not carry this mutation. In another male patient with noncontributory family history, sequencing revealed a 1-bp (T) deletion at amino acid position 280, leading to a frame shift and, subsequently a premature stop codon at amino acid position 371. The presence of this mutation in the patients` genome was further confirmed by digestion of genomic PCR product with MspI created by this mutation. Family studies using MspI digestion of genomic PCR products revealed that neither parent of this individual carried the mutation. These results clearly indicate that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. 31 refs., 4 figs., 2 tabs.

  17. Idiopathic noncirrhotic portal hypertension: current perspectives.

    Science.gov (United States)

    Riggio, Oliviero; Gioia, Stefania; Pentassuglio, Ilaria; Nicoletti, Valeria; Valente, Michele; d'Amati, Giulia

    2016-01-01

    The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe patients with a hepatic presinusoidal cause of portal hypertension of unknown etiology, characterized by features of portal hypertension (esophageal varices, nonmalignant ascites, porto-venous collaterals), splenomegaly, patent portal, and hepatic veins and no clinical and histological signs of cirrhosis. Physicians should learn to look for this condition in a number of clinical settings, including cryptogenic cirrhosis, a disease known to be associated with INCPH, drug administration, and even chronic alterations in liver function tests. Once INCPH is clinically suspected, liver histology becomes mandatory for the correct diagnosis. However, pathologists should be familiar with the histological features of INCPH, especially in cases in which histology is not only requested to exclude liver cirrhosis.

  18. Idiopathic multiple aneurysm of external carotid artery

    Directory of Open Access Journals (Sweden)

    Saravanan Balachandran

    2014-01-01

    Full Text Available Aneurysms of external carotid artery are rare. Treatments for these are undertaken for the prevention of complications like hemorrhage or rupture, and embolism. We present a 71-year-old male with idiopathic multiple aneurysm for the past 34 years on conservative management and regular follow up for the past 4 years. This case was discussed for the rarity of idiopathic multiple aneurysm of the external carotid artery and the need for individualized treatment protocol to be followed as in this case, only watchful observation considering the age and patient compliance. In this world of evolving surgical techniques and newer treatment modalities, conservative treatment still has a role to play. Primary care physicians at the community level have a major role in following these patients and referring them as and when the need arises.

  19. Giant scrotal elephantiasis: an idiopathic case.

    Science.gov (United States)

    Dianzani, C; Gaspardini, F; Persichetti, P; Brunetti, B; Pizzuti, A; Margiotti, K; Degener, A M

    2010-01-01

    Scrotal elephantiasis is very rare disease in industrialized countries, where it is mainly due to surgery, irradiation or malignancies. It can be defined as idiopathic only when the possible congenital, infectious and compressive causes are excluded. We report a case of massive scrotal lymphoedema in an adult Caucasian patient, in Italy. He presented an extremely voluminous scrotal mass measuring 50 x 47 x 13 cm (weight 18 kg), which extended below his knees, invalidating all his daily activities. The patient was hospitalized in order to undergo to surgical treatment. Although genetic causes were searched and the possible role of infectious agents and compressive factors was evaluated, no etiology was ascertained. Histopathologic examination showed non-specific chronic inflammation, confirming the diagnosis of idiopathic elephantiasis. One year after surgical treatment, the patient is healthy without recurrence signs.

  20. A case of idiopathic omental hemorrhage

    Directory of Open Access Journals (Sweden)

    Toshimitsu Hosotani

    2016-05-01

    Full Text Available With the exception of trauma, intraperitoneal hemorrhage in young women is caused by the high frequency of ectopic pregnancy and ovarian bleeding. Here, we describe a case of idiopathic omental hemorrhage, which is a rare cause of intraperitoneal hemorrhage. Intraperitoneal hemorrhage was suspected in a 38-year-old Japanese woman based on contrast-enhanced computed tomography. Her last menstrual period was 23 days prior, and ovarian bleeding was considered based on bloody ascites revealed by culdocentesis. She underwent emergency surgery for hypovolemic shock. Although both ovaries were of normal size and no abnormal findings were observed, we performed a partial omentectomy because multiple clots were attached only to the greater omentum. Postoperatively, no rebleeding occurred, and she was discharged 11 days after the surgery. Because she did not have a clear history of trauma and underlying disease, idiopathic omental hemorrhage was diagnosed.

  1. Impact of juvenile idiopathic arthritis on schooling

    Directory of Open Access Journals (Sweden)

    Bouaddi Ilham

    2013-01-01

    Full Text Available Abstract Background Juvenile idiopathic arthritis (JIA is the most common arthropathy of childhood. Different diseases affect school attendance to varying degrees. The aim of this study was to assess the impact of juvenile idiopathic arthritis (JIA on Moroccan children’s schooling. Methods Thirty-three children with JIA were included in this study, having been previously diagnosed according to the classification criteria of the International League of Associations for Rheumatology (ILAR. Seventy-four healthy children were recruited to serve as controls. Data was obtained for all children on their school level, educational performance, and attendance. The rate of absenteeism due to health complications was noted. Results All healthy children were able to attend school (p Conclusions Our study suggested that the schooling of children with JIA was negatively impacted due to the disorder. More studies, with a larger sample of children, are needed to confirm our findings.

  2. [Secondary male hypogonadism induced by sellar space-occupying lesion: Clinical analysis of 22 cases].

    Science.gov (United States)

    Lu, Hong-Lei; Wang, Tao; Xu, Hao; Chen, Li-Ping; Rao, Ke; Yang, Jun; Yuan, Hui-Xing; Liu, Ji-Hong

    2016-08-01

    To analyze the clinical characteristics of secondary male hypogonadism induced by sellar space-occupying lesion, explore its pathogenesis, and improve its diagnosis and treatment. We retrospectively analyzed the clinical data about 22 cases of secondary male hypogonadism induced by sellar space-occupying lesion, reviewed related literature, and investigated the clinical manifestation, etiological factors, and treatment methods of the disease. Hypogonadism developed in 10 of the patients before surgery and radiotherapy (group A) and in the other 12 after it (group B). The patients received endocrine therapy with Andriol (n=7) or hCG (n=15). The average diameter of the sellar space-occupying lesions was significantly longer in group A than in B ([2.35±0.71] vs [1.83±0.36] cm, P<0.05) and the incidence rate of prolactinomas was markedly higher in the former than in the latter group (60% vs 0, P<0.01). The levels of lutein hormone (LH), follicle stimulating hormone (FSH) and testosterone (T) were remarkably decreased in group B after surgery and radiotherapy (P<0.01). Compared with the parameters obtained before endocrine therapy, all the patients showed significant increases after intervention with Andriol or hCG in the T level ([0.78±0.40] vs [2.71±0.70] ng/ml with Andriol; [0.93±0.44] vs [3.07±0.67] ng/ml with hCG) and IIEF-5 score (5.00±2.61 vs 14.50±3.62 with Andriol; 5.36±1.82 vs 15.07±3.27 with hCG) (all P<0.01). The testis volume increased and pubic hair began to grow in those with hypoevolutism. The patients treated with hCG showed a significantly increased testis volume (P<0.01) and sperm was detected in 7 of them, whose baseline testis volume was markedly larger than those that failed to produce sperm ([11.5±2.3] vs [7.5±2.3] ml, P<0.01). Those treated with Andriol exhibited no significant difference in the testis volume before and after intervention and produced no sperm, either. Hypothyroidism might be attributed

  3. An Update on Idiopathic Intracranial Hypertension

    OpenAIRE

    Thurtell, Matthew J.; Bruce, Beau B.; Newman, Nancy J.; Biousse, Valérie

    2010-01-01

    Idiopathic intracranial hypertension (IIH) is a condition of unknown etiology often encountered in neurologic practice. It produces non-localizing symptoms and signs of raised intracranial pressure and, when left untreated, can result in severe irreversible visual loss. It most commonly occurs in obese women of childbearing age, but it can also occur in children, men, non-obese adults, and older adults. While it is frequently associated with obesity, it can be associated with other conditions...

  4. Juvenile idiopathic arthritis-associated uveitis

    OpenAIRE

    Clarke, Sarah; Sen, Ethan; Ramanan, Athimalaipet

    2016-01-01

    Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood, with JIA-associated uveitis its most common extra-articular manifestation. JIA-associated uveitis is a potentially sight-threatening condition and thus carries a considerable risk of morbidity. The aetiology of the condition is autoimmune in nature with the predominant involvement of CD4(+) T cells. However, the underlying pathogenic mechanisms remain unclear, particularly regarding interplay between geneti...

  5. A case of idiopathic interstitial pneumonia

    OpenAIRE

    豊見山, 寛; 兼島, 洋; 下地, 克佳; 金城, 勇徳; 中富, 昌夫; 小張, 一峰; 松井, 克明; Tomiyama, Hiroshi; Kaneshima, Hiroshi; Shimoji, Katsuyoshi; Kinjo, Yutoku; Nakatomi, Masao; Kobari, Kazumine; Matsui, Katsuaki; 琉球大学医学部第一内科

    1982-01-01

    A case of idiopathic interstitial pneumonia was reported. A 53-year-old man was admitted to our hospital with his complaint of shortness of breath. On physical examination clubbing of the fingers was noticed and velcro rales was heard on the bilateral lower back. On laboratory data no remarkable finding was revealed. Chest roentgenogram showed diffuse reticulonodular shadow and small ring shadow of the bilateral lower lung fields. On pulmonary function test decline of VC and DLco was revealed...

  6. Idiopathic granulomatous hypophysitis: clinical and imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Vasile, M. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Marsot-Dupuch, K. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Kujas, M. [Service d`Histologie Embryologie Cytogenetique, Hopital Pitie-Salpetriere, 75 - Paris (France); Brunereau, L. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Bouchard, P. [Service d`Histologie Embryologie Cytogenetique, Hopital Pitie-Salpetriere, 75 - Paris (France); Comoy, J. [Service de Neurochirurgie, Hopital Kremlin Bicetre, 94 (France); Tubiana, J.M. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France)

    1997-01-01

    Idiopathic pituitary granuloma is a rare disorder similar to lymphocytic adenohypophysitis. Few cases have been reported. We report a new histologically case proven with MRI. The patterns of clinical and radiological presentation and the management of this disorder are discussed. MRI findings suggestive of this condition include an intensely enhancing pituitary mass, associated with dural enhancement. Steroid therapy may be suggested avoiding unnecessary surgery. (orig.)

  7. Graves' disease and idiopathic intracranial hypertension

    OpenAIRE

    Manish Gutch; Annesh Bhattacharjee; Sukriti Kumar; Durgesh Pushkar

    2017-01-01

    Idiopathic intracranial hypertension (IIH) is a central nervous system disorder characterized by raised intracranial pressure with normal cerebrospinal fluid composition and absence of any structural anomaly on neuroimaging. Among all endocrine disorders associated with the development of IIH, the association of hyperthyroidism and IIH is very rare with few cases reported till date. Thyroid disturbances have a unique association with IIH. Hypo- and hyper-thyroidism have been reported in assoc...

  8. Pulmonary function in children with idiopathic scoliosis

    Directory of Open Access Journals (Sweden)

    Tsiligiannis Theofanis

    2012-03-01

    Full Text Available Abstract Idiopathic scoliosis, a common disorder of lateral displacement and rotation of vertebral bodies during periods of rapid somatic growth, has many effects on respiratory function. Scoliosis results in a restrictive lung disease with a multifactorial decrease in lung volumes, displaces the intrathoracic organs, impedes on the movement of ribs and affects the mechanics of the respiratory muscles. Scoliosis decreases the chest wall as well as the lung compliance and results in increased work of breathing at rest, during exercise and sleep. Pulmonary hypertension and respiratory failure may develop in severe disease. In this review the epidemiological and anatomical aspects of idiopathic scoliosis are noted, the pathophysiology and effects of idiopathic scoliosis on respiratory function are described, the pulmonary function testing including lung volumes, respiratory flow rates and airway resistance, chest wall movements, regional ventilation and perfusion, blood gases, response to exercise and sleep studies are presented. Preoperative pulmonary function testing required, as well as the effects of various surgical approaches on respiratory function are also discussed.

  9. Idiopathic intracranial hypertension in pediatric patients

    Directory of Open Access Journals (Sweden)

    Nada Jirásková

    2008-11-01

    Full Text Available Nada Jirásková, Pavel RozsívalDepartment of Ophthalmology, University Hospital, Hradec Králové, Czech RepublicPurpose: To evaluate retrospectively the features, treatment, and outcome of idiopathic intracranial hypertension (IIH in children.Methods: Nine patients, 15 years and younger, diagnosed with IIH. Inclusion criteria were papilledema, normal brain computer tomography or magnetic resonance imaging, cerebrospinal fluid pressure greater than 250 mm H2O, normal cerebrospinal fluid content, and a nonfocal neurologic examination except for sixth nerve palsy.Results: Of the nine patients, eight were girls. Five girls were overweight and one boy was obese. The most common presenting symptom was headache (5 patients. Diplopia or strabismus did not occur in our group. Visual field abnormalities were present in all eyes, and severe visual loss resulting in light perception vision occurred in both eyes of one patient. Eight patients were treated medically with acetazolamide alone, and one girl needed a combination of acetazolamide and corticosteroids. This girl also required optic nerve sheath decompression surgery. Resolution of papilledema and recovery of visual function occurred in all patients.Conclusions: Idiopathic intracranial hypertension in prepubertal children is rather uncommon. Prompt diagnosis and management are important to prevent permanent visual loss.Keywords: idiopathic intracranial hypertension, pediatric, treatment

  10. Neurodevelopment in preschool idiopathic toe-walkers.

    Science.gov (United States)

    Martín-Casas, P; Ballestero-Pérez, R; Meneses-Monroy, A; Beneit-Montesinos, J V; Atín-Arratibel, M A; Portellano-Pérez, J A

    2017-09-01

    Idiopathic toe walking, a differential diagnosis for neurological and orthopaedic disorders, has been associated with neurodevelopmental alterations. Neurodevelopmental assessment at early ages using specific tests may improve management and follow-up of these patients. The aim of our study is to analyse the neurodevelopmental characteristics of preschool idiopathic toe-walkers (ITW) by comparing them to a control group. Our descriptive cross-sectional study compared possible risk factors, neurodevelopmental characteristics, and scores on the Child Neuropsychological Maturity Questionnaire (CUMANIN) between a group of 56 ITWs aged 3 to 6 and a control group including 40 children. The proportion of males was significantly higher in the ITW group (P=.008). The percentage of patients with a family history (P=.000) and biological risk factors during the perinatal period (P=.032) was also higher in this group. According to the parents' reports, motor coordination in ITWs was significantly poorer (59%; P=.009). ITWs scored significantly lower on CUMANIN subscales of psychomotricity (=0,001) and memory (P=.001), as well as in verbal development (P=.000), non-verbal development (P=.026), and overall development (P=.004). Foot preference was less marked in the ITW group (P=.047). The neurodevelopmental characteristics of our sample suggest that idiopathic toe walking is a marker of neurodevelopmental impairment. However, further studies are necessary to confirm these findings. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Interventional Radiologic Treatment for Idiopathic Portal Hypertension

    International Nuclear Information System (INIS)

    Hirota, Shozo; Ichikawa, Satoshi; Matsumoto, Shinichi; Motohara, Tomofumi; Fukuda, Tetsuya; Yoshikawa, Takeshi

    1999-01-01

    Purpose: To evaluate the usefulness of interventional radiological treatment for idiopathic portal hypertension. Methods: Between 1995 and 1998, we performed an interventional radiological treatment in five patients with idiopathic portal hypertension, four of whom had refused surgery and one of whom had undergone surgery. Three patients with gastroesophageal varices (GEV) were treated by partial splenic embolization (PSE), one patient with esophageal varices (EV) and massive ascites by transjugular intrahepatic portosytemic shunt (TIPS) and PSE, and one patient with GEV by percutaneous transhepatic obliteration (PTO). Midterm results were analyzed in terms of the effect on esophageal and/or gastric varices. Results: In one woman with severe GEV who underwent three sessions of PSE, there was endoscopic confirmation that the GEV had disappeared. In one man his EV shrunk markedly after two sessions of PSE. In two patients slight reduction of the EV was obtained with one application of PSE combined with endoscopic variceal ligation therapy. PTO for GV in one patient resulted in good control of the varices. All patients have survived for 16-42 months since the first interventional treatment, and varices are well controlled. Conclusion: Interventional radiological treatment is effective for patients with idiopathic portal hypertension, whether or not they have undergone surgery

  12. Present and future association between obesity and hypogonadism in Italian male

    Directory of Open Access Journals (Sweden)

    Valentina Boddi

    2014-03-01

    Full Text Available Objective: Obesity prevalence is increasing worldwide and it is nowadays considered a real public health problem. Obesity is associated with co-morbidities like cardiovascular diseases (CVD and type 2 diabetes mellitus (T2DM, furthermore visceral obesity can be related to low testosterone (T plasma levels. The link between obesity and hypogonadism (HG is complex and not completely clarified. Current guidelines suggest that screening for HG should be done in subjects with obesity and T2DM. The aim of this evaluation is to assess the estimated actual and future prevalence of obesity and related co-morbidities, in particular HG, in the Italian general population. Materials and Methods: The Strategyst Consulting Inc. recently completed an epidemiology forecast model for several countries, looking at HG and CV/Metabolic Disease, based on National Health and Nutrition Examination Survey (NHANES data collected between 1999-2010. Data from NHANES survey were used to evaluate the Italian estimated prevalence of obesity and HG. Results: Results show that obesity estimated prevalence will increase in 2030 also in Italy. In addition, also the prevalence of obese CVD and T2DM subjects will increase too. Even Italian HG prevalence is estimated to increase in the next two decades, irrespective of T threshold considered (< 8, 10 and 12 nmol/L. In obese CVD subjects the relative risk (RR of developing HG (T < 8 nmol/L is four times greater than in not-CVD obese subjects (RR = 4.1, 3.1 and 1.9 accordingly to the aforementioned T thresholds for defining HG. Accordingly, the estimated percentage of hypogonadal obese CVD and T2DM subjects will rise in 2030. Conclusions: The Strategyst epidemiology forecast model has allowed to assess the current and future prevalence of obesity and its relative co-morbidities like HG in Italy. Data emerged from this evaluation suggest that obesity and HG prevalence will increase in Italian population and confirm the complex link

  13. Hypogonadotropic hypogonadism and metabolic syndrome: insights from the high-fat diet experimental rabbit animal model.

    Science.gov (United States)

    Morelli, Annamaria; Vignozzi, Linda; Maggi, Mario

    2016-06-01

    The etiology of metabolic syndrome (MetS) is complex and involves the interplay between environmental, lifestyle and genetic determinants. MetS in men can be associated with a biochemical pattern of partial hypogonadotropic hypogonadism (HH). A similar pattern has been noted in both men and women with a variety of acute illnesses and chronic diseases, and there is ongoing debate regarding whether this phenomenon might adaptive (e.g. diverting resources from reproduction into survival), or maladaptive (e.g. anemia, sarcopenia, osteopenia and fatigue of androgen-deficiency amplify and widen the adverse consequences of the original disease-trigger). In women with hypothalamic amenorrhea (HA-HH secondary to chronic bioenergetic deficit from dietary restriction and/or intensive exercise), a genetic link to congenital HH (CHH) was recently established; women carrying monoallelic CHH gene mutations will typically not develop CHH, but are significantly more susceptible to HA. However, the male reproductive axis seems to be more resistant to similar environmental insults. In contrast, MetS-associated HH (mHH) is specifically a male phenomenon; the reproductive phenotype of females with MetS tending instead towards hyperandrogenism, rather than hypogonadism. The underlying pathogenic mechanisms responsible for mHH have not been clearly identified and, as yet, there has been no investigation of a potential role for CHH mutation carriage in its etiology. Over the decades, the use of either genetic- or diet-induced obesity and/or MetS animal models has greatly helped to illuminate the complex etiology of metabolic dysregulation, but the strong relationship between obesity/MetS and mHH in males has been largely neglected, with little or no information about the regulation of reproductive function by metabolic factors under conditions of bioenergetic excess. However, the pathogenic link between MetS and HH in males has been recently investigated in an animal model of high fat

  14. Male Hypogonadism. A Case Report Hipogonadismo masculino. Presentación de un caso

    Directory of Open Access Journals (Sweden)

    Lisandro Hernández Madrazo

    2012-07-01

    Full Text Available The case of a 26 years old male patient who attended the Internal Medicine consultation at the La Fortaleza Integral Diagnostic Center in Maracaibo, Zulia State, Venezuela because of decreased external genitalia size, with poor development from childhood and swelling of the breasts is presented. Physical examination showed a trunk of feminoid configuration caused by adipose tissue accumulated in the lower abdomen, breast and pubic; wide pelvis; lower limb dominance over higher limbs; enucoid proportions; volume diffusely  increased in both breasts (gynecomastia; deposit of fatty tissue at the pelvic girdle, and absent or sparse facial, axillary and pubic hair. We observed decreased size, poor pigmentation, and soft consistency in penis and testicles. Exam was performed on plasma testosterone, luteinizing hormone and follicle stimulating hormone, thus concluding, by the Endocrinology Service at the Maracaibo University Hospital, to be the case of hypogonadotropic hypogonadism of improvable cause. The clinical diagnosis of hypogonadism in adults is unusual in medical practice, a fact that provides with relevance the case we present.Se presenta el caso de un paciente de 26 años, que acudió a consulta de Medicina Interna en el Centro de Diagnóstico Integral La Fortaleza, Maracaibo, Estado Zulia, Venezuela, por presentar disminución del tamaño de los genitales externos, con escaso desarrollo de estos desde su niñez, y aumento de volumen de las mamas. Al examen físico se constató un tronco de configuración feminoide por panículo adiposo acumulado en bajo vientre, mama y pubis; pelvis ancha; predominio de las extremidades inferiores sobre las superiores, proporciones eunucoides; aumento de volumen de forma difusa en ambas mamas (ginecomastia; depósito de tejido graso a nivel de la cintura pélvica; y ausente o escaso vello facial, axilar y pubiano. Se observó tamaño disminuido, escasa pigmentación, y consistencia blanda, en pene y test

  15. Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

    Science.gov (United States)

    Laitinen, Eeva-Maria; Tommiska, Johanna; Sane, Timo; Vaaralahti, Kirsi; Toppari, Jorma; Raivio, Taneli

    2012-01-01

    Background Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism (HH) have common phenotypic or genotypic features. Methods and Findings Thirty-two male HH patients with anosmia/hyposmia (Kallmann Syndrome, KS; n = 26) or normal sense of smell (nHH; n = 6) were enrolled (age range, 18–61 yrs). The patients were clinically examined, and reversal of HH was assessed after treatment withdrawal. KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, WDR11, GNRHR, GNRH1, KISS1R, KISS1, TAC3, TACR3, and LHβ were screened for mutations. Six HH patients (2 KS, 4 nHH) were verified to have reversal of HH. In the majority of cases, reversal occurred early in adulthood (median age, 23 yrs; range, 21–39 yrs). All had spontaneous testicular growth while on testosterone replacement therapy (TRT). One nHH subject was restarted on TRT due to a decline in serum T. Two reversal variants had a same GNRHR mutation (R262Q), which was accompanied by another GNRHR mutation (R139H or del309F). In addition, both of the KS patients had a mutation in CHD7 (p.Q51X) or FGFR1 (c.91+2T>A). Conclusions Considerable proportion of patients with HH (8% of KS probands) may recover in early adulthood. Spontaneous testicular enlargement during TRT was highly suggestive for reversal of HH. Those with the GNRHR mutation R262Q accompanied by another GNRHR mutation may be prone to reversal, although even patients with a truncating mutation in CHD7 or a splice-site mutation in FGFR1 can recover. We recommend that all adolescents and young adults with congenital HH should be informed on the possibility of reversal. PMID:22724017

  16. Late-onset hypogonadism: Current concepts and controversies of pathogenesis, diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Ilpo Huhtaniemi

    2014-04-01

    Full Text Available Although suppressed serum testosterone (T is common in ageing men, only a small proportion of them develop the genuine syndrome of low T associated with diffuse sexual (e.g., erectile dysfunction, physical (e.g. loss of vigor and frailty and psychological (e.g., depression symptoms. This syndrome carries many names, including male menopause or climacterium, andropause and partial androgen deficiency of the ageing male (PADAM. Late-onset hypogonadism (LOH describes it best and is therefore generally preferred. The decrease of T in LOH is often marginal, and hypogonadism can be either due to primary testicular failure (low T, high luteinizing hormone (LH or secondary to a hypothalamic-pituitary failure (low T, low or inappropriately normal LH. The latter form is more common and it is usually associated with overweight/obesity or chronic diseases (e.g., type 2 diabetes mellitus, the metabolic syndrome, cardiovascular and chronic obstructive pulmonary disease, and frailty. A problem with the diagnosis of LOH is that often the symptoms (in 20%-40% of unselected men and low circulating T (in 20% of men >70 years of age do not coincide in the same individual. The European Male Ageing Study (EMAS has recently defined the strict diagnostic criteria for LOH to include the simultaneous presence of reproducibly low serum T (total T <11 nmol l−1 and free T <220 pmol l−1 and three sexual symptoms (erectile dysfunction, and reduced frequency of sexual thoughts and morning erections. By these criteria, only 2% of 40- to 80-year-old men have LOH. In particular obesity, but also impaired general health, are more common causes of low T than chronological age per se. Evidence-based information whether, and how, LOH should be treated is sparse. The most logical approach is lifestyle modification, weight reduction and good treatment of comorbid diseases. T replacement is widely used for the treatment, but evidence-based information about its real benefi ts and

  17. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

    Directory of Open Access Journals (Sweden)

    Eeva-Maria Laitinen

    Full Text Available BACKGROUND: Congenital hypogonadotropic hypogonadism (HH is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism (HH have common phenotypic or genotypic features. METHODS AND FINDINGS: Thirty-two male HH patients with anosmia/hyposmia (Kallmann Syndrome, KS; n = 26 or normal sense of smell (nHH; n = 6 were enrolled (age range, 18-61 yrs. The patients were clinically examined, and reversal of HH was assessed after treatment withdrawal. KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, WDR11, GNRHR, GNRH1, KISS1R, KISS1, TAC3, TACR3, and LHβ were screened for mutations. Six HH patients (2 KS, 4 nHH were verified to have reversal of HH. In the majority of cases, reversal occurred early in adulthood (median age, 23 yrs; range, 21-39 yrs. All had spontaneous testicular growth while on testosterone replacement therapy (TRT. One nHH subject was restarted on TRT due to a decline in serum T. Two reversal variants had a same GNRHR mutation (R262Q, which was accompanied by another GNRHR mutation (R139H or del309F. In addition, both of the KS patients had a mutation in CHD7 (p.Q51X or FGFR1 (c.91+2T>A. CONCLUSIONS: Considerable proportion of patients with HH (8% of KS probands may recover in early adulthood. Spontaneous testicular enlargement during TRT was highly suggestive for reversal of HH. Those with the GNRHR mutation R262Q accompanied by another GNRHR mutation may be prone to reversal, although even patients with a truncating mutation in CHD7 or a splice-site mutation in FGFR1 can recover. We recommend that all adolescents and young adults with congenital HH should be informed on the possibility of reversal.

  18. Association between hypogonadism, symptom burden, and survival in male patients with advanced cancer.

    Science.gov (United States)

    Dev, Rony; Hui, David; Del Fabbro, Egidio; Delgado-Guay, Marvin O; Sobti, Nikhil; Dalal, Shalini; Bruera, Eduardo

    2014-05-15

    A high frequency of hypogonadism has been reported in male patients with advanced cancer. The current study was performed to evaluate the association between low testosterone levels, symptom burden, and survival in male patients with cancer. Of 131 consecutive male patients with cancer, 119 (91%) had an endocrine evaluation of total (TT), free (FT), and bioavailable testosterone (BT); high-sensitivity C-reactive protein (CRP); vitamin B12; thyroid-stimulating hormone; 25-hydroxy vitamin D; and cortisol levels when presenting with symptoms of fatigue and/or anorexia-cachexia. Symptoms were evaluated by the Edmonton Symptom Assessment Scale. The authors examined the correlation using the Spearman test and survival with the log-rank test and Cox regression analysis. The median age of the patients was 64 years; the majority of patients were white (85 patients; 71%). The median TT level was 209 ng/dL (normal: ≥ 200 ng/dL), the median FT was 4.4 ng/dL (normal: ≥ 9 ng/dL), and the median BT was 22.0 ng/dL (normal: ≥ 61 ng/dL). Low TT, FT, and BT values were all associated with worse fatigue (P ≤ .04), poor Eastern Cooperative Oncology Group performance status (P ≤ .05), weight loss (P ≤ .01), and opioid use (P ≤ .005). Low TT and FT were associated with increased anxiety (P ≤ .04), a decreased feeling of well-being (P ≤ .04), and increased dyspnea (P ≤ .05), whereas low BT was only found to be associated with anorexia (P = .05). Decreased TT, FT, and BT values were all found to be significantly associated with elevated CRP and low albumin and hemoglobin. On multivariate analysis, decreased survival was associated with low TT (hazards ratio [HR], 1.66; P = .034), declining Eastern Cooperative Oncology Group performance status (HR, 1.55; P = .004), high CRP (HR, 3.28; P male patients with cancer, low testosterone levels were associated with systemic inflammation, weight loss, increased symptom burden, and decreased survival. A high frequency of

  19. Late-onset hypogonadism: Current concepts and controversies of pathogenesis, diagnosis and treatment

    Science.gov (United States)

    Huhtaniemi, Ilpo

    2014-01-01

    Although suppressed serum testosterone (T) is common in ageing men, only a small proportion of them develop the genuine syndrome of low T associated with diffuse sexual (e.g., erectile dysfunction), physical (e.g. loss of vigor and frailty) and psychological (e.g., depression) symptoms. This syndrome carries many names, including male menopause or climacterium, andropause and partial androgen deficiency of the ageing male (PADAM). Late-onset hypogonadism (LOH) describes it best and is therefore generally preferred. The decrease of T in LOH is often marginal, and hypogonadism can be either due to primary testicular failure (low T, high luteinizing hormone (LH)) or secondary to a hypothalamic-pituitary failure (low T, low or inappropriately normal LH). The latter form is more common and it is usually associated with overweight/obesity or chronic diseases (e.g., type 2 diabetes mellitus, the metabolic syndrome, cardiovascular and chronic obstructive pulmonary disease, and frailty). A problem with the diagnosis of LOH is that often the symptoms (in 20%–40% of unselected men) and low circulating T (in 20% of men >70 years of age) do not coincide in the same individual. The European Male Ageing Study (EMAS) has recently defined the strict diagnostic criteria for LOH to include the simultaneous presence of reproducibly low serum T (total T <11 nmol l−1 and free T <220 pmol l−1) and three sexual symptoms (erectile dysfunction, and reduced frequency of sexual thoughts and morning erections). By these criteria, only 2% of 40- to 80-year-old men have LOH. In particular obesity, but also impaired general health, are more common causes of low T than chronological age per se. Evidence-based information whether, and how, LOH should be treated is sparse. The most logical approach is lifestyle modification, weight reduction and good treatment of comorbid diseases. T replacement is widely used for the treatment, but evidence-based information about its real benefits and short

  20. Glymphatic MRI in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

    2017-10-01

    The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer's disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic function. In

  1. Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes

    Directory of Open Access Journals (Sweden)

    Karges Beate

    2012-01-01

    Full Text Available Hypothalamic gonadotropin releasing hormone (GnRH is a key player in normal puberty and sexual development and function. Genetic causes of isolated hypogonadotropic hypogonadism (IHH have been identified during the recent years affecting the synthesis, secretion, or action of GnRH. Developmental defects of GnRH neurons and the olfactory bulb are associated with hyposmia, rarely associated with the clinical phenotypes of synkinesia, cleft palate, ear anomalies, or choanal atresia, and may be due to mutations of KAL1, FGFR1/FGF8, PROKR2/PROK2, or CHD7. Impaired GnRH secretion in normosmic patients with IHH may be caused by deficient hypothalamic GPR54/KISS1, TACR3/TAC3, and leptinR/leptin signalling or mutations within the GNRH1 gene itself. Normosmic IHH is predominantly caused by inactivating mutations in the pituitary GnRH receptor inducing GnRH resistance, while mutations of the β-subunits of LH or FSH are very rare. Inheritance of GnRH deficiency may be oligogenic, explaining variable phenotypes. Future research should identify additional genes involved in the complex network of normal and disturbed puberty and reproduction.

  2. Multiple Fractures in Patient with Graves' Disease Accompanied by Isolated Hypogonadotropic Hypogonadism.

    Science.gov (United States)

    Yi, Hyon-Seung; Kim, Ji Min; Ju, Sang Hyeon; Lee, Younghak; Kim, Hyun Jin; Kim, Koon Soon

    2016-02-01

    Isolated hypogonadotropic hypogonadism (IHH) is known to decrease bone mineral density due to deficiency of sex steroid hormone. Graves' disease is also an important cause of secondary osteoporosis. However, IHH does not preclude the development of primary hyperthyroidism caused by Graves' disease, leading to more severe osteoporosis rapidly. Here, we describe the first case of 35-year-old Asian female patient with IHH accompanied by Graves' disease and osteoporosis-induced multiple fractures. Endocrine laboratory findings revealed preserved anterior pituitary functions except for secretion of gonadotropins and showed primary hyperthyroidism with positive autoantibodies. Sella magnetic resonance imaging showed slightly small sized pituitary gland without mass lesion. Dual energy X-ray absorptiometry revealed severe osteoporosis in lumbar spine and femur neck of the patient. Plain film radiography of the pelvis and shoulder revealed a displaced and nondisplaced fracture, respectively. After surgical fixation with screws for the femoral fracture, the patient was treated with antithyroid medication, calcium, and vitamin D until now and has been recovering fairly well. We report a patient of IHH with Graves' disease and multiple fractures that is a first case in Korea.

  3. Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

    Science.gov (United States)

    Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

    2012-11-01

    To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  4. Is testosterone treatment dangerous for the cardiovascular system in older hypogonadal men?

    Directory of Open Access Journals (Sweden)

    Antonio Aversa

    2014-09-01

    Full Text Available The relationship between testosterone deficiency syndrome (TDS and men's vascular health has a great impact in the modern approach to the aging male. There is good evidence that low testosterone (T is associated with erectile dysfunction (ED and that ED is a strong marker for cardiovascular risk; also, TDS is frequently associated with increased cardiovascular and all-cause mortality. Noteworthy, the occurrence of increased levels of glucose, total cholesterol, low-density lipoprotein, pro-inflammatory cytokines, and myointimal carotid thickness may be associated with reduced T levels especially in cardiac older frail men. Screening for low T should be mandatory in high risk groups including those with type 2 diabetes, metabolic syndrome and obesity. The rising demand from patients to be treated for ED associated with TDS will increase the prescribing of T and facilitate future long-term studies on its impact on cardiovascular disease (CVD. Recent studies suggest warnings with regard to T prescription in older frail men, but we regret that these studies had consistent bias in inclusion criteria and statistical evaluation. Data from studies conducted in more selected populations suggest that T replacement therapy may improve multiple surrogate markers for CVD as well as reducing cardiovascular mortality. After analyzing the most important studies' limitation, we can conclude that at present there is insufficient evidence of a causal relationship between T therapy and adverse cardiovascular outcomes to support against T supplementation in older hypogonadal frail men.

  5. Hypogonadotropic hypogonadism: new identification of testicular blood flow and varicocele after treatment with gonadotropins.

    Science.gov (United States)

    ur Rehman, Khaleeq; Shahid, Khubaib; Humayun, Hina

    2014-09-01

    To investigate testicular changes in patients with hypogonadotropic hypogonadism (HH) after treatment with gonadotropins. Patients with HH were investigated and followed before and after treatment. Urology and andrology clinic of a teaching hospital. Consecutive male patients with diagnosed HH. All patients were treated with gonadotropins during the study period and later. The hormonal status and scrotal color Doppler ultrasound (CDUS) of patients was recorded before and after treatment. Twenty-six patients with HH (ages 18-43 years) were followed for 8-29 months. After treatment, serum T and secondary sex characters improved in all and spermatogenesis developed in 61.5% of patients. Before treatment, testicular (intraparenchymal blood flow) was undetectable in all and barely detectable in three patients. This improved significantly to 4.53±5.44 and 4.27±4.97 cm/second, respectively, after treatment. Subcapsular arterial flow and testicular size also improved significantly. Similarly, after treatment, transverse epididymal diameter (TED) increased significantly. At baseline, no patient had detectable varicocele on CDUS. After treatment, varicocele was demonstrable in 23% of patients. This finding was further evaluated retrospectively from our 76 HH patient files. None of them had varicocele before treatment, but after treatment 19.73% were found to have varicocele. Patients with HH responded to gonadotropins by improvement in testicular blood flow and increase in TED. In some patients, varicocele was found to develop after treatment. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  6. Safety and efficacy of testosterone gel in the treatment of male hypogonadism

    Directory of Open Access Journals (Sweden)

    Kishore M Lakshman

    2009-10-01

    Full Text Available Kishore M Lakshman, Shehzad BasariaSection of Endocrinology, Diabetes, and Nutrition. Boston University School of Medicine, Boston Medical Center, Boston, MA, USAAbstract: Transdermal testosterone gels were first introduced in the US in 2000. Since then, they have emerged as a favorable mode of testosterone substitution. Serum testosterone levels reach a steady-state in the first 24 hours of application and remain in the normal range for the duration of the application. This pharmacokinetic profile is comparable to that of testosterone patch but superior to injectable testosterone esters that are associated with peaks and troughs with each dose. Testosterone gels are as efficacious as patches and injectable forms in their effects on sexual function and mood. Anticipated increases in prostate-specific antigen with testosterone therapy are not significantly different with testosterone gels, and the risk of polycythemia is lower than injectable modalities. Application site reactions, a major drawback of testosterone patches, occur less frequently with testosterone gels. However, inter-personal transfer is a concern if appropriate precautions are not taken. Superior tolerability and dose flexibility make testosterone gel highly desirable over other modalities of testosterone replacement. Androgel and Testim, the two currently available testosterone gel products in the US, have certain brandspecific properties that clinicians may consider prior to prescribing.Keywords: testosterone gel, Androgel, Testim, hypogonadism

  7. Hormonal control of spermatogenesis in men: therapeutic aspects in hypogonadotropic hypogonadism.

    Science.gov (United States)

    Pitteloud, Nelly; Dwyer, Andrew

    2014-05-01

    During the first two trimesters of intrauterine life, fetal sex steroid production is driven by maternal human chorionic gonadotropin (hCG). The HPG axis is activated around the third trimester and remains active for the first 6-months of neonatal life. This so-called mini-puberty is a developmental window that has profound effects on future potential for fertility. In early puberty, GnRH secretion is reactivated first at night and then night and day. Pulsatile GnRH stimulates both LH and FSH, which induce maturation of the seminiferous tubules and Leydig cells. Congenital hypogonadotropic hypogonadism (CHH) results from GnRH deficiency. Men with CHH lack the mini-pubertal and pubertal periods of Sertoli Cell proliferation and thus present with prepubertal testes (Fertility outcomes with each of these regimens are highly variable. Recently, a randomized, open label treatment study (n=13) addressed the question of whether a sequential treatment with FSH alone prior to LH and FSH (via GnRH pump) could enhance fertility outcomes. All men receiving the sequential treatment developed sperm in the ejaculate, whereas 2/6 men in the other group remained azoospermic. A large, multicenter clinical trial is needed to definitively prove the optimal treatment approach for severe CHH. Copyright © 2014. Published by Elsevier Masson SAS.

  8. Hypogonadotropic Hypogonadism in Non-Functioning Pituitary Adenomas: Impact of Intervention.

    Science.gov (United States)

    Monteiro, Diana Margarida; Freitas, Paula; Vieira, Romana; Carvalho, Davide

    2017-06-01

    To determine the prevalence of hypogonadotropic hypogonadism (HH) among patients with non-functioning pituitary adenomas (NFPA) and the post-surgery outcome on pituitary gonadotropins secretion (PGS); to determine the prevalence of erectile dysfunction (ED) on male patients with NFPA, to evaluate the impact of testosterone replacement therapy (TRT) in those with HH. Retrospective evaluation of gonadal function in 109 NFPA patients (45 males), with a mean age of 51.8 years, diagnosed on the last 10 years. ED questionnaire applied to 34 male patients. Male patients with NFPA were significantly older (males 58.1±15.8 vs. females 47.4±16.94; p=0.001). Most patients had macroadenomas (67%; p=0.001) and only a minority were incidentalomas (19%; pmales, 25% on females; pmales, 42% of females; pMales were older, had more HH and surgery. There was no significant improvement of pituitary function with surgery (17%) and 13% became iatrogenic HH. TRT had a low efficacy to improve ED in these patients. © Georg Thieme Verlag KG Stuttgart · New York.

  9. Idiopathic scoliosis; a biomechanical and functional anatomical study.

    NARCIS (Netherlands)

    Veldhuizen, Albert Gerrit

    1985-01-01

    Although many types of causes of scoliosis are known, the idiopathic variety comprises the largest group and as its name indicates, its a etiology is unknown. Idiopathics coliosis develops in a previously normal vertebral column and has been recognized as an entity for more than a century.

  10. Idiopathic gastric perforation in an asplenic infant | Olsen | African ...

    African Journals Online (AJOL)

    Introduction: The cause of idiopathic gastric perforations in neonates remains unknown. Perforations of the abdominal oesophagus, stomach and duodenum in infants and children are the rarest type of intestinal perforations. There are 21 reported cases of an idiopathic gastric rupture in nonneonates. Case Report: A ...

  11. The clinical profile of idiopathic Parkinson's disease in a South ...

    African Journals Online (AJOL)

    The clinical profile of idiopathic Parkinson's disease in a South African hospital complex - the influence of ethnicity and gender. Marcelle Smith, Girish Modi. Abstract. Background Idiopathic Parkinson's Disease (IPD) has not been well studied in Black African populations. Data on the demographics, phenotype differences ...

  12. Is idiopathic recurrent pancreatitis attributed to small stones?

    OpenAIRE

    Chow, Wai-Keung; Peng, Yen-Chun

    2013-01-01

    Idiopathic recurrent pancreatitis remains a clinical challenge. Intraductal ultrasonography in the management of idiopathic recurrent pancreatitis may be a new strategy for undetermined causes after initial diagnostic approaches, including endoscopic retrograde cholangio-pancreatography (ERCP). However, no definite cause after ERCP should be defined under optimal settings and with experienced technique.

  13. Perceived health status in self-reported adolescent idiopathic scoliosis

    DEFF Research Database (Denmark)

    Andersen, Mikkel Ø; Thomsen, Karsten; Kyvik, Kirsten O

    2010-01-01

    A questionnaire-based identification of adolescent idiopathic scoliosis (AIS) patients and measure of Short Form-12 (SF-12) in a big twin-cohort.......A questionnaire-based identification of adolescent idiopathic scoliosis (AIS) patients and measure of Short Form-12 (SF-12) in a big twin-cohort....

  14. Angiopoietin-2 polymorphism in women with idiopathic recurrent miscarriage.

    Science.gov (United States)

    Pietrowski, Detlef; Tempfer, Clemens; Bettendorf, Hertha; Bürkle, Bernd; Nagele, Fritz; Unfried, Gertrud; Keck, Christoph

    2003-10-01

    To investigate the relationship between idiopathic recurrent miscarriage and a polymorphism of the gene encoding for angiopoietin-2 (ANGPT2), an autochthonous modulator of angiogenesis during pregnancy. Prospective case control study. Academic research institution. One hundred thirty-one women with a history of three or more consecutive pregnancy losses before 20 weeks' gestation, and 125 healthy, postmenopausal controls with at least two live births and no history of pregnancy loss. Peripheral venous puncture. Polymerase chain reaction and restriction fragment length polymorphism analysis were performed to identify the different ANGPT2 alleles. No association between mutant (mt) allele and the occurrence of idiopathic recurrent miscarriage was found. Between women with primary and secondary idiopathic recurrent miscarriage, no statistically significant differences with respect to allele frequencies were observed. This is the first report on the ANGPT2 gene polymorphism in women with idiopathic recurrent miscarriage, demonstrating that the investigated polymorphism is not associated with idiopathic recurrent miscarriage in a white population.

  15. Acute exacerbation of idiopathic pulmonary fibrosis triggered by Aspergillus empyema

    Directory of Open Access Journals (Sweden)

    Atsushi Suzuki

    Full Text Available Acute exacerbation (AE is a severe and life-threatening complication of idiopathic pulmonary fibrosis (IPF. In 2016, the definition and diagnostic criteria for AE-IPF were updated by an international working group. The new definition includes any acute, clinically significant respiratory deterioration (both idiopathic and triggered events characterized by evidence of new widespread alveolar abnormality in patients with IPF. There are no currently proven beneficial management strategies for idiopathic and triggered AE-IPF. This is the first report describing AE-IPF triggered by Aspergillus empyema, which was improved by a combination of corticosteroid, systemic antifungal therapy, local antifungal therapy, and additional pharmacological therapies. Future research may reveal optimal strategies for both idiopathic and triggered AE-IPF. Keywords: Idiopathic pulmonary fibrosis, Acute exacerbation, AE-IPF, Triggered AE, Aspergillus infection

  16. Optimal diagnostic measures and thresholds for hypogonadism in men with HIV/AIDS: comparison between 2 transdermal testosterone replacement therapy gels.

    Science.gov (United States)

    Blick, Gary

    2013-03-01

    To determine the incidence of hypogonadism in men with human immunodeficiency virus (HIV)/acquired immunodeficiency virus (AIDS), the most useful serum testosterone measurement and threshold for diagnosing hypogonadism, and the comparative efficacy of 2 testosterone replacement therapy (TRT) 1% gels (AndroGel® [Abbott Laboratories] and Testim® [Auxilium Pharmaceuticals, Inc.]). This was a 2-stage observational study. In stage 1, patient records from 2 medical practices specializing in HIV/AIDS were reviewed. Eligible patients were aged ≥ 18 years; had HIV-seropositive status confirmed by enzyme-linked immunosorbent assay and western blot test or HIV-1 viremia confirmed by HIV-1 RNA polymerase chain reaction; and had prior baseline testosterone assessments for hypogonadism (ie, presence of signs/symptoms of hypogonadism as well as total testosterone [TT] and free testosterone [FT] level measurements). Stage 2 included the evaluation of patients from stage 1 who were treated with 5 to 10 g/day of TRT. The stage 2 inclusion criteria were a diagnosis of low testosterone (defined as TT level < 300 ng/dL and/or FT level < 50 pg/mL, as per The Endocrine Society guidelines and presence/absence of hypogonadal signs and symptoms); ≥ 12 months of evaluable sign and symptom assessments and TT/FT level measurements while on TRT with either Testim® or AndroGel®; and ≥ 4 weeks on initial TRT if the initial TRT was switched or discontinued. Four hundred one of 422 patients met the stage 1 inclusion criteria and 167 of 401 patients (AndroGel®, n = 92; Testim®, n = 75) met the stage 2 inclusion criteria. Total testosterone level < 300 ng/dL alone identified 24% (94 of 390) of patients as hypogonadal, but failed to diagnose an additional 111 patients (67.7%) with FT levels < 100 pg/mL and hypogonadal symptoms. Through month 12, AndroGel® increased mean TT levels by +42.8% and FT levels by +66.9%, compared with +178.7% (P = 0.017) and +191% (P = 0.039), respectively, for

  17. Segmental torso masses in adolescent idiopathic scoliosis.

    Science.gov (United States)

    Keenan, Bethany E; Izatt, Maree T; Askin, Geoffrey N; Labrom, Robert D; Pettet, Graeme J; Pearcy, Mark J; Adam, Clayton J

    2014-08-01

    Adolescent idiopathic scoliosis is the most common type of spinal deformity whose aetiology remains unclear. Studies suggest that gravitational forces in the standing position play an important role in scoliosis progression, therefore anthropometric data is required to develop biomechanical models of the deformity. Few studies have analysed the trunk by vertebral level and none have performed investigations of the scoliotic trunk. The aim of this study was to determine the centroid, thickness, volume and estimated mass, for sections of the scoliotic trunk. Existing low-dose CT scans were used to estimate vertebral level-by-level torso masses for 20 female adolescent idiopathic scoliosis patients. ImageJ processing software was used to analyse the CT images and enable estimation of the segmental torso mass corresponding to each vertebral level. The patients' mean age was 15.0 (SD 2.7) years with mean major Cobb angle of 52 (SD 5.9)° and mean patient weight of 58.2 (SD 11.6) kg. The magnitude of torso segment mass corresponding to each vertebral level increased by 150% from 0.6kg at T1 to 1.5kg at L5. Similarly, segmental thickness from T1-L5 increased inferiorly from a mean 18.5 (SD 2.2) mm at T1 to 32.8 (SD 3.4) mm at L5. The mean total trunk mass, as a percentage of total body mass, was 27.8 (SD 0.5) % which was close to values reported in previous literature. This study provides new anthropometric reference data on segmental (vertebral level-by-level) torso mass in adolescent idiopathic scoliosis patients, useful for biomechanical models of scoliosis progression and treatment. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Idiopathic interstitial pneumonias: imaging-pathology correlation

    International Nuclear Information System (INIS)

    Ellis, Stephen M.; Hansell, David M.

    2002-01-01

    The terminology related to idiopathic interstitial pneumonia (IIP) remains confusing and in some cases wholly inaccurate. In addition, a greater understanding of the correlation between high-resolution computed tomography (HRCT) appearances and the corresponding histopathological changes found in the interstitial pneumonias has resulted in a crucial role for HRCT in the investigation of IIPs. The role of the radiologist is becoming increasingly important with a strong emphasis on establishing a diagnosis without resorting to lung biopsy. We aim to clarify the current classification of the IIPs highlighting their clinical, pathological and imaging characteristics in order to assist the radiologist in performing their increasingly important diagnostic role. (orig.)

  19. Autonomic symptoms in idiopathic REM behavior disorder

    DEFF Research Database (Denmark)

    Ferini-Strambi, Luigi; Oertel, Wolfgang; Dauvilliers, Yves

    2014-01-01

    Patients with idiopathic REM sleep behavior disorder (iRBD) are at very high risk of developing neurodegenerative synucleinopathies, which are disorders with prominent autonomic dysfunction. Several studies have documented autonomic dysfunction in iRBD, but large-scale assessment of autonomic...... symptoms has never been systematically performed. Patients with polysomnography-confirmed iRBD (318 cases) and controls (137 healthy volunteers and 181 sleep center controls with sleep diagnoses other than RBD) were recruited from 13 neurological centers in 10 countries from 2008 to 2011. A validated scale...

  20. Radioaerosol lung scintigraphy in idiopathic scolios

    International Nuclear Information System (INIS)

    Maini, C.L.; Giordano, A.; Santucci, B.; Aulisa, L.; Pistelli, R.; Fuso, L.

    1988-01-01

    The study of respiratory fuctions is of key importance for the clinical evaluation of patients with idiopathic scoliosis. Such study has been traditionally based on classical pulmonary function tests and arterial hemogasanalysis. However, neither procedure gives any information on the topographical distribution of abnormalities, and both might be suboptimal as far as sensitivity is concerned. The preliminary results obtained with radioaerosol lung scintigraphy in 11 patients with scoliosis are here presented. They lead to the conclusion that radioaerosol lung scintigraphy, besides being an useful adjunct to more traditional diagnostic procedures, can yield unique information on the localization of convective ventilation derangements induced by the dynamic abnormalities of the rib cage

  1. Surgical repair of idiopathic scrotal elephantiasis.

    Science.gov (United States)

    Zacharakis, Evangelos; Dudderidge, Tim; Zacharakis, Emmanouil; Ioannidis, Evangelos

    2008-02-01

    Scrotal lymphedema (scrotal elephantiasis) is uncommon outside of filariasis endemic regions. We present a case of a 65-year-old with idiopathic lymphedema of the scrotum and functional impairment of the penis. The patient underwent surgical excision of the edematous subcutaneous tissues and plastic reconstruction of his penis and scrotum. Three years later, the patient showed no signs of local recurrence, had complete restoration of urinary and sexual function and was extremely satisfied with the result. Surgical management was an effective strategy in the management of scrotal lymphedema in this case.

  2. [Idiopathic scrotal elephantiasis. A case report].

    Science.gov (United States)

    López-Caballero, Ignacio; Sánchez-Ruvalcaba, Itzel; Sánchez-Martinez, Luis Carlos; Hernández-Ordoñez, Octavio; Gómez-Lara, Miguel; Flores-Carrillo, Víctor

    2014-01-01

    Penoscrotal lymphedema (scrotal elephantiasis) is a condition that has been described in areas in which filariasis is endemic. This paper presents a case of a 45-year-old man with idiopathic lymphedema isolated to the scrotum. After acquired causes of lymphedema were ruled out, the patient was treated with scrotectomy and penoscrotal reconstruction. Currently, the patient is receiving follow-up care without evidence of recurrence. Penoscrotal lymphedema may cause symptoms of weakness, immobility and emotional disturbance. Surgery procedure provides a satisfactory cosmetical and functional outcome.

  3. Phototesting In The Idiopathic Photodermatoses Among Indians

    Directory of Open Access Journals (Sweden)

    Bejoy P

    1998-01-01

    Full Text Available 50 patients with idiopathic photodermatoses were phototested using the solar simulator, with broad spectrum wavebands of the whole spectrum (WS and the whole spectrum â€" ultraviolet B (WS- UVB to determine the minimal erythema dose. Cases diagnosed as solar urticaria were further tested with visible light. Among the photodermatoses seen in this part of the country polymorphic light eruption (PLE was the commonest followed by chronic actinic dermatitis (CAD and solar urticaria. The UVB wavelengths appeared to be more responsible than UVA in PLE and CAD while the UVA and visible wavelengths were responsible for solar urticaria.

  4. Dystonia Associated with Idiopathic Slow Orthostatic Tremor

    Directory of Open Access Journals (Sweden)

    Christopher Kobylecki

    2016-02-01

    Full Text Available Background: We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor.Case Report: The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4–8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor.Discussion: Slow orthostatic tremor may be associated with dystonia and dystonic tremor.

  5. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    Science.gov (United States)

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is a parenchymal lung disease characterized by progressive interstitial fibrosis. The clinical course of IPF can be unpredictable and may be punctuated by acute exacerbations. Although much progress is being made in unraveling the mechanisms underlying IPF, effective therapy for improving survival remains elusive. Longitudinal disease profiling, especially in terms of clinical manifestations in a large cohort of patients, should lead to proper management of the patients and development of new treatments for IPF. Appropriate multidisciplinary assessment in ongoing registries is required to achieve this. This review summarizes the current status of the diagnosis and clinical manifestations of IPF. PMID:27625576

  6. Idiopathic incapacitates in infancy and childhood

    International Nuclear Information System (INIS)

    Crankson, Stanley J.; Al-Rabeeh, Abdulla A.; Fischer, James D.; Al-Jaddan, Saud A.

    2003-01-01

    Idiopathic intussusception is an important cause of abdominal pain, bleeding per rectum and intestinal obstruction in infancy and childhood. The main aim of this study was to undertake a retrospective review of all chidren who presented with idiopathic intussusception over a 17-year period. The medical record of children who presented idiopathic intussusception from January 1984 to December 2000 at King Fahad National Guard Hospital ,Riyadh, Kingdom of Saudi Arabia were reviewed. The data obtained included age, sex clincal presentation, diagonstic investigations, mode of treatment, length of hospital stay and results. Thirty-three chidren (21 male, 12female) presented with 37 episodes of intussusception.Their mean age was 8.4 months (range 5 hours to 36 months ). Clinical features included rectal bleeding (81%), vomiting (78%), abdominal colic/pain (65%) and abdominal mass (62%) .All cases were ileocolic intussusception with no leading point. Barium enema was attempted in 36 cases with success in 20 (56%). Laparotomy was required in 16 csaes, manual reduction being successful in 11(30%) and 6 (16%) had bowel resection. At surgery, after attempted Barium reduction, 9(56%) cases had the intussusception already reduced to cecum. Seventy percent of the cases presented within 24 hours of onset of the symptoms.The 4 recurrences in 3 children had successful enema reduction. There was no mortality but 3 operative cases of this type required late surgery for adhesive intestinal obstruction including one requiring bowel resection. Idiopathic indussusception commonly presents as an ileo-colic type but is uncommon in our institution. The clinical features are classical, rectal bleeding being the most common. The majority presented within 24 hours of onset of symptoms and Barium enema reduction was sucessfull in 20 out of 36 cases in which it was attempted . Since most intussusception were already in the cecum at surgey after failed enema reduction could be considerd in stable

  7. Graves' disease and idiopathic intracranial hypertension

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2017-01-01

    Full Text Available Idiopathic intracranial hypertension (IIH is a central nervous system disorder characterized by raised intracranial pressure with normal cerebrospinal fluid composition and absence of any structural anomaly on neuroimaging. Among all endocrine disorders associated with the development of IIH, the association of hyperthyroidism and IIH is very rare with few cases reported till date. Thyroid disturbances have a unique association with IIH. Hypo- and hyper-thyroidism have been reported in association with this disorder. We present a rare case of a 25-year-old man with Graves' disease with intractable headache that was later investigated and attributed to development of IIH.

  8. Natural evolution from idiopathic photosensitive occipital lobe epilepsy to idiopathic generalized epilepsy in an untreated young patient.

    Science.gov (United States)

    Bonini, Francesca; Egeo, Gabriella; Fattouch, Jinan; Fanella, Martina; Morano, Alessandra; Giallonardo, Anna Teresa; di Bonaventura, Carlo

    2014-04-01

    Idiopathic photosensitive occipital lobe epilepsy (IPOE) is an idiopathic localization-related epilepsy characterized by age-related onset, specific mode of precipitation, occipital photic-induced seizures--frequently consisting of visual symptoms--and good prognosis. This uncommon epilepsy, which usually starts in childhood or adolescence, has rarely been observed in families in which idiopathic generalized epilepsy also affects other members. We describe a nuclear family in which the proband showed electro-clinical features of idiopathic photosensitive occipital lobe epilepsy in childhood, which subsequently evolved into absences and a single generalized tonico-clonic seizure in early adolescence. His mother had features suggestive of juvenile myoclonic epilepsy. This case illustrates a continuum between focal and generalized entities in the spectrum of the so-called idiopathic (genetically determined) epileptic syndromes. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  9. Dutasteride reduces prostate size and prostate specific antigen in older hypogonadal men with benign prostatic hyperplasia undergoing testosterone replacement therapy.

    Science.gov (United States)

    Page, Stephanie T; Hirano, Lianne; Gilchriest, Janet; Dighe, Manjiri; Amory, John K; Marck, Brett T; Matsumoto, Alvin M

    2011-07-01

    Benign prostatic hyperplasia and hypogonadism are common disorders in aging men. There is concern that androgen replacement in older men may increase prostate size and symptoms of benign prostatic hyperplasia. We examined whether combining dutasteride, which inhibits testosterone to dihydrotestosterone conversion, with testosterone treatment in older hypogonadal men with benign prostatic hyperplasia reduces androgenic stimulation of the prostate compared to testosterone alone. We conducted a double-blind, placebo controlled trial of 53 men 51 to 82 years old with symptomatic benign prostatic hyperplasia, prostate volume 30 cc or greater and serum total testosterone less than 280 ng/dl (less than 9.7 nmol/l). Subjects were randomized to daily transdermal 1% T gel plus oral placebo or dutasteride for 6 months. Testosterone dosing was adjusted to a serum testosterone of 500 to 1,000 ng/dl. The primary outcomes were prostate volume measured by magnetic resonance imaging, serum prostate specific antigen and androgen levels. A total of 46 subjects completed all procedures. Serum testosterone increased similarly into the mid-normal range in both groups. Serum dihydrotestosterone increased in the testosterone only but decreased in the testosterone plus dutasteride group. In the testosterone plus dutasteride group prostate volume and prostate specific antigen (mean ± SEM) decreased 12% ± 2.5% and 35% ± 5%, respectively, compared to the testosterone only group in which prostate volume and prostate specific antigen increased 7.5% ± 3.3% and 19% ± 7% (p = 0.03 and p = 0.008), respectively, after 6 months of treatment. Prostate symptom scores improved in both groups. Combined treatment with testosterone plus dutasteride reduces prostate volume and prostate specific antigen compared to testosterone only. Coadministration of a 5α-reductase inhibitor with testosterone appears to spare the prostate from androgenic stimulation during testosterone replacement in older

  10. Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?

    Science.gov (United States)

    Nahata, Leena; Yu, Richard N; Bhasin, Shalender; Cohen, Laurie E

    2015-05-01

    Male hypogonadism is a common disorder that is associated with low bone density, poor muscle mass, anemia, and sexual dysfunction. The Endocrine Society recently published a Clinical Practice Guideline for testosterone therapy in androgen-deficient men. Because treatment is frequently initiated in adolescence, the goal of this quality improvement initiative was to assess whether pediatric endocrinologists at a large tertiary care center follow these guidelines and to identify opportunities for improvement. We performed a retrospective chart review at Boston Children's Hospital. Inclusion criteria were as follows: current age ≥16 years, diagnosis of hypogonadism, and testosterone replacement therapy. Data were collected about current age, age at treatment initiation, diagnoses, pre- and on-treatment testosterone levels, route of testosterone administration and dose, bone density, hematocrit levels, and adherence with therapy. Fifty-nine patients were included. Fourteen (24%) were prescribed lower testosterone doses than those recommended in the Clinical Practice Guideline. Seven (12%) had no pre-treatment testosterone levels, and 10 (17%) had no on-treatment levels. In 49 patients with on-treatment testosterone levels, 36 had at least one value that was lower than the adult reference range. Ten (28%) of the 36 men with low testosterone levels had no dose adjustments. Thirty-seven (63%) of the 59 patients had no dual-energy X-ray absorptiometry scans, and 18 (31%) did not have hematocrit levels. Pediatric endocrinologists in this review did not consistently follow the Clinical Practice Guideline for testosterone therapy in hypogonadal adult males. Strategies that improve adherence to guidelines could help maximize the benefits of therapy and minimize treatment-associated risks.

  11. 7α-methyl-19-nortestosterone (MENTR): the population council's contribution to research on male contraception and treatment of hypogonadism.

    Science.gov (United States)

    Nieschlag, Eberhard; Kumar, Narender; Sitruk-Ware, Régine

    2013-03-01

    Testosterone is an essential part of all regimens for hormonal male contraception tested to date. Initial efficacy trials revealed that the half-life of the testosterone preparations available at that time was too short to be used for male contraception. The ensuing search for long-acting preparations yielded testosterone buciclate and undecanoate as well as 7α-methyl-19-nortestosterone (MENT). Following description of the principle of male hormonal contraception and the efficacy trials performed to date, the systematic development of MENT for substitution of male hypogonadism and use in male contraception by the Population Council is reviewed here. Copyright © 2013. Published by Elsevier Inc.

  12. Testosterone Replacement Therapy in Adolescents With Sickle Cell Disease Reverses Hypogonadism Without Promoting Priapism: A Case Report

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    Belinda F. Morrison

    2015-11-01

    Full Text Available Delayed puberty secondary to hypogonadism is commonly seen in sickle cell disease (SCD, affecting normal growth and development. The condition is rarely treated in SCD for fear of inducing priapism episodes. We present a case report of an Afro-Jamaican adolescent male at 16 years of age who presented with symptoms of delayed puberty as well as frequent stuttering priapism episodes. Endocrinological assessment revealed low serum total testosterone levels. Treatment was commenced monthly with testosterone enanthate which resulted in improved symptoms of delayed puberty, improvement in anthropometric parameters while apparently ameliorating priapism episodes.

  13. The effectiveness of zinc supplementation in men with isolated hypogonadotropic hypogonadism

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    Yan-Ling Liu

    2017-01-01

    Full Text Available A multicenter, open-label, randomized, controlled superiority trial with 18 months of follow-up was conducted to investigate whether oral zinc supplementation could further promote spermatogenesis in males with isolated hypogonadotropic hypogonadism (IHH receiving sequential purified urinary follicular-stimulating hormone/human chorionic gonadotropin (uFSH/hCG replacement. Sixty-seven Chinese male IHH patients were recruited from the Departments of Endocrinology in eight tertiary hospitals and randomly allocated into the sequential uFSH/hCG group (Group A, n = 34 or the sequential uFSH plus zinc supplementation group (Group B, n = 33. In Group A, patients received sequential uFSH (75 U, three times a week every other 3 months and hCG (2000 U, twice a week treatments. In Group B, patients received oral zinc supplementation (40 mg day−1 in addition to the sequential uFSH/hCG treatment given to patients in Group A. The primary outcome was the proportion of patients with a sperm concentration ≥1.0 × 106 ml−1 during the 18 months. The comparison of efficacy between Groups A and B was analyzed. Nineteen of 34 (55.9% patients receiving sequential uFSH/hCG and 20 of 33 (60.6% patients receiving sequential uFSH/hCG plus zinc supplementation achieved sperm concentrations ≥1.0 × 106 ml−1 by intention to treat analyses. No differences between Group A and Group B were observed as far as the efficacy of inducing spermatogenesis (P = 0.69. We concluded that the sequential uFSH/hCG plus zinc supplementation regimen had a similar efficacy to the sequential uFSH/hCG treatment alone. The additional improvement of 40 mg day−1 oral zinc supplementation on spermatogenesis and masculinization in male IHH patients is very subtle.

  14. Late-onset hypogonadism: the advantages of treatment with human chorionic gonadotropin rather than testosterone.

    Science.gov (United States)

    La Vignera, Sandro; Condorelli, Rosita Angela; Cimino, Laura; Russo, Giorgio Ivan; Morgia, Giuseppe; Calogero, Aldo E

    2016-01-01

    The traditional pharmacological treatment of patients with late onset hypogonadism (LOH) is represented by different formulations of testosterone (T) or alternatively by the extractive human chorionic gonadotropin (HCG). The hormone replacement treatment (HRT) is associated with the potential increase of hematocrit, serum concentrations of prostate-specific antigen (PSA) and prostate volume. Moreover, the gynecomastia represent a condition frequently associated with HRT. Recent evidences showed the role of leydig cells in the 25-hydroxylation of vitamin D and the elevated frequency of hypovitaminosis D among LOH patients. Finally, another important aspect of LOH is represented by the frequency of secondary infertility due to age or to traditional HRT. This study evaluated 40 LOH patients treated for 6 months with extractive HCG (n = 10 patients) and three different formulations of T: transdermal (n = 10 patients), undecaonate (n = 10 patients) and enantate (n = 10 patients). Hormonal, anthropometric, metabolic and sperm parameters were evaluated and compared. Moreover, the main safety parameters and the results of the main questionnaires were evaluated. After treatment, HCG group showed serum concentrations of 25-OH-vitamin D significantly higher (p < 0.05) and serum concentrations of oestrogens significantly lower (p < 0.05) compared with other groups. Moreover, they showed a mean value of hematocrit, PSA and prostate volume significantly lower (p < 0.05) compared with other groups. Finally, all the groups treated with T showed a significant reduction (p < 0.05) of sperm density and of percentage of spermatozoa with progressive motility compared with HCG group.

  15. Efficacy and Outcome Predictors of Gonadotropin Treatment for Male Congenital Hypogonadotropic Hypogonadism

    Science.gov (United States)

    Liu, Zhaoxiang; Mao, Jangfeng; Wu, Xueyan; Xu, Hongli; Wang, Xi; Huang, Bingkun; Zheng, Junjie; Nie, Min; Zhang, Hongbing

    2016-01-01

    Abstract Gonadotropin induces masculinization and spermatogenesis in men with congenital hypogonadotropic hypogonadism (CHH). However, large cohort studies for the efficacy and reliable predictors of this therapy need to be conducted. The aim of this study was to investigate the efficacy of gonadotropin treatment in a large cohort of male CHH patients and analyze putative predictors for successful spermatogenesis. This retrospective study included 223 CHH azoospermic patients without puberty development treated between 2005 and 2014. All patients received combined human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) and were followed up for >6 months (5109 person-months). Serum total testosterone level, testicular size, spermatogenesis, and pregnancy outcome were recorded at each visit. After gonadotropin therapy, testicular size was enlarged from 2.1 ± 1.6 to 8.1 ± 4.6 mL (P 0/mL) occurred at a median period of 15 months (95% confidence interval 13.5–16.5). Larger basal testicular volume (P = 0.012) and noncryptorchidism history (P = 0.028) are independent predictors for earlier sperm appearance. Sixty four percent (143/223) of patients succeeded in producing sperms and the average time for initial sperm detection was 14 ± 8 months. However, their sperm concentrations (11.7 [2.1, 24.4] million/mL) and sperm progressive motility (A + B 36.9% ± 20.2%) are significantly lower than World Health Organization standards. Of the 34 patients who desired for fathering children, 19 patients impregnanted their partners during the treatment. Gonadotropin therapy induces spermatogenesis in male CHH patients. A larger basal testicular size and noncryptorchidism history are favorable indicators for earlier spermatogenesis. PMID:26945370

  16. Risk of Hypogonadism From Scatter Radiation During Pelvic Radiation in Male Patients With Rectal Cancer

    International Nuclear Information System (INIS)

    Yau, Ivan; Vuong, Te; Garant, Aurelie; Ducruet, Thierry; Doran, Patrick; Faria, Sergio; Liberman, Sender; Richard, Carole; Letellier, Francois; Charlebois, Patrick; Loungnarath, Rasmy; Stein, Barry; Devic, Slobodan

    2009-01-01

    Purpose: Recent studies have reported fluctuations in sex hormones during pelvic irradiation. The objective of this study was to observe the effects of radiation on hormonal profiles for two treatment modalities: conventional external beam radiotherapy (EBRT) and high-dose-rate brachytherapy (HDRBT) given neoadjuvantly for patients with rectal cancer. Methods and Materials: Routine serum follicle stimulating hormone (FSH), luteinizing hormone (LH), and testosterone levels were collected from 119 consecutive male patients receiving either EBRT, using 45.0-50.4 Gy in 25-28 fractions with concurrent 5-fluorouracil chemotherapy or HDRBT using 26 Gy in 4 fractions. Results: Thirty patients with initially abnormal profiles were excluded. Profiles included in this study were collected from 51 patients treated with EBRT and 38 patients treated with HDRBT, all of whom had normal hormonal profiles before treatment. Mean follow-up times were 17 months for the entire patient cohort-14 and 20 months, respectively-for the EBRT and HDRBT arms. Dosimetry results revealed a mean cumulative testicular dose of 1.24 Gy received in EBRT patients compared with 0.27 Gy in the HDRBT group. After treatment, FSH and LH were elevated in all patients but were more pronounced in the EBRT group. The testosterone-to-LH ratio was significantly lower (p = 0.0036) in EBRT patients for tumors in the lower third of the rectum. The 2-year hypogonadism rate observed was 2.6% for HDRBT compared with 17.6% for EBRT (p = 0.09) for tumors in the lower two thirds of the rectum. Conclusion: HDRBT allows better hormonal sparing than EBRT during neoadjuvant treatment of patients with rectal cancer.

  17. Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism

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    Shota Dzemaili

    2017-08-01

    Full Text Available Objective: Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH and evaluate if their experiences differ from women with more common forms of infertility. Design: Cross-sectional, multiple methods study using web-based data collection to reach dispersed rare disease patients. Methods: A community-based participatory research framework was employed to develop an online survey and collect quantitative and qualitative data. Adult women diagnosed with CHH who had received at least one year of hormonal treatment completed the Morisky Medication Adherence Scale, Revised Illness Perception Questionnaire and Zung Self-Rating Depression Scale. Information on health care experiences, treatment outcomes and patient-reported challenges were also collected. Results: Women (n = 55 were often diagnosed late (20.7 ± 7.4, range: 10–48 years and 16/20 patients receiving fertility treatment conceived. Poor adherence was frequently observed (34/55 while more than half (27/49 reported a gap in treatment exceeding a year. Low adherence correlated with depressive symptoms (r = 0.3, P > 0.05. Negative illness perceptions were pervasive and 30/55 exhibited some depressive symptoms – significantly greater than women with common female factor infertility (P < 0.01. Symptoms were underappreciated by providers as only 15 of 55 patients had discussions about psychological services. Women identified isolation, need for information and finding expert care as challenges to living with CHH. Conclusions: Despite being a treatable form of female infertility, the presumable availability of treatment does not necessarily ensure adequate quality of life for women with isolated GnRH deficiency.

  18. Male Hypogonadism and Germ Cell Loss Caused by a Mutation in Polo-Like Kinase 4

    Science.gov (United States)

    Harris, Rebecca M.; Weiss, Jeffrey

    2011-01-01

    The genetic etiologies of male infertility remain largely unknown. To identify genes potentially involved in spermatogenesis and male infertility, we performed genome-wide mutagenesis in mice with N-ethyl-N-nitrosourea and identified a line with dominant hypogonadism and patchy germ cell loss. Genomic mapping and DNA sequence analysis identified a novel heterozygous missense mutation in the kinase domain of Polo-like kinase 4 (Plk4), altering an isoleucine to asparagine at residue 242 (I242N). Genetic complementation studies using a gene trap line with disruption in the Plk4 locus confirmed that the putative Plk4 missense mutation was causative. Plk4 is known to be involved in centriole formation and cell cycle progression. However, a specific role in mammalian spermatogenesis has not been examined. PLK4 was highly expressed in the testes both pre- and postnatally. In the adult, PLK4 expression was first detected in stage VIII pachytene spermatocytes and was present through step 16 elongated spermatids. Because the homozygous Plk4I242N/I242N mutation was embryonic lethal, all analyses were performed using the heterozygous Plk4+/I242N mice. Testis size was reduced by 17%, and histology revealed discrete regions of germ cell loss, leaving only Sertoli cells in these defective tubules. Testis cord formation (embryonic day 13.5) was normal. Testis histology was also normal at postnatal day (P)1, but germ cell loss was detected at P10 and subsequent ages. We conclude that the I242N heterozygous mutation in PLK4 is causative for patchy germ cell loss beginning at P10, suggesting a role for PLK4 during the initiation of spermatogenesis. PMID:21791561

  19. The Association Among Hypogonadism, Symptom Burden, and Survival in Male Patients with Advanced Cancer

    Science.gov (United States)

    Dev, R; Hui, D; Del Fabbro, E; Delgado-Guay, MO; Sobti, N; Dalal, S; Bruera, E

    2014-01-01

    Background A high frequency of hypogonadism has been reported in male patients with advanced cancer. Objectives To evaluate the association among low testosterone, symptom burden and survival in cancer patients. Methods 119/131 (91%) consecutive male cancer patients had an endocrine evaluation of total/free/bioavailable testosterone (TT, FT, BT, respectively), high-sensitivity C-reactive protein (CRP), vitamin B12, thyroid stimulating hormone, 25-hydroxy vitamin D and cortisol levels when presenting with symptoms of fatigue and/or anorexia-cachexia. Symptoms were evaluated by the Edmonton Symptom Assessment Scale. We examined the correlation with Spearman test and survival with log rank test and Cox-regression analysis. Results The median age was 64; majority were white 85 (71%). Median TT was 209ng/dL (normal ≥200 ng/dL), FT was 4.4 ng/dL (normal ≥9 ng/dL), and BT was 22.0 ng/dL (normal ≥61ng/dL). Low TT, FT, and BT values were all associated with worse fatigue (p≤0.04), poor performance status (p≤0.05), weight loss (p≤0.01), and opioid use (p≤0.005). Low TT and FT were associated with increased anxiety (p≤0.04), decreased feeling of well-being (p≤0.04), and increased dyspnea (p≤0.05); while BT was only associated with anorexia (p=0.05). Decreased TT, FT, and BT values were all significantly associated with elevated CRP, low albumin and hemoglobin. In multivariate analysis, decreased survival was associated with low TT (HR 1.66; p=0.034), declining ECOG performance status (HR 1.55; p=0.004), high CRP (HR 3.28; pmale cancer patients, low testosterone was associated with systemic inflammation, weight loss, increased symptom burden, and decreased survival. PMID:24577665

  20. Idiopathic Noncirrhotic Portal Hypertension: An Appraisal

    Science.gov (United States)

    Lee, Hwajeong; Rehman, Aseeb Ur; Fiel, M. Isabel

    2016-01-01

    Idiopathic noncirrhotic portal hypertension is a poorly defined clinical condition of unknown etiology. Patients present with signs and symptoms of portal hypertension without evidence of cirrhosis. The disease course appears to be indolent and benign with an overall better outcome than cirrhosis, as long as the complications of portal hypertension are properly managed. This condition has been recognized in different parts of the world in diverse ethnic groups with variable risk factors, resulting in numerous terminologies and lack of standardized diagnostic criteria. Therefore, although the diagnosis of idiopathic noncirrhotic portal hypertension requires clinical exclusion of other conditions that can cause portal hypertension and histopathologic confirmation, this entity is under-recognized clinically as well as pathologically. Recent studies have demonstrated that variable histopathologic entities with different terms likely represent a histologic spectrum of a single entity of which obliterative portal venopathy might be an underlying pathogenesis. This perception calls for standardization of the nomenclature and formulation of widely accepted diagnostic criteria, which will facilitate easier recognition of this disorder and will highlight awareness of this entity. PMID:26563701

  1. Idiopathic constipation: A challenging but manageable problem.

    Science.gov (United States)

    Bischoff, Andrea; Brisighelli, Giulia; Dickie, Belinda; Frischer, Jason; Levitt, Marc A; Peña, Alberto

    2017-10-10

    A protocol to treat idiopathic constipation is presented. A contrast enema is performed in every patient and, when indicated, patients are initially submitted to a "clean out" protocol. All patients are started on a Senna-based laxative. The initial dosage is empirically determined and adjusted daily, during a one week period, based on history and abdominal radiographs, until the amount of Senna that empties the colon is reached. The management is considered successful when patients empty their colon daily and stop soiling. If the laxatives dose provokes abdominal cramping, distension, and vomiting, without producing bowel movements, patients are considered nonmanageable. From 2005 to 2012, 215 patients were treated. 121 (56%) were males. The average age was 8.2years (range: 1-20). 160 patients (74%) presented encopresis. 67 patients (32%) needed a clean out. After one week, 181 patients (84%) achieved successful management, with an average Senna dose of 67mg (range: 5-175mg). In 34 patients (16%) the treatment was unsuccessful: 19 were nonmanageable, 3 noncompliant, and 12 continued soiling. At a later follow-up (median: 329days) the success rate for 174 patients was 81%. We designed a successful protocol to manage idiopathic constipation. The key points are clean out before starting laxatives, individual adjustments of laxative, and radiological monitoring of colonic emptying. Level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Idiopathic sclerosing encapsulating peritonitis (or abdominal cocoon

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    Legakis Nikolaos

    2006-02-01

    Full Text Available Abstract Background Idiopathic sclerosing encapsulating peritonitis (or abdominal cocoon is a rare cause of small bowel obstruction, especially in adult population. Diagnosis is usually incidental at laparotomy. We discuss one such rare case, outlining the fact that an intra-operative surprise diagnosis could have been facilitated by previous investigations. Case presentation A 56 year-old man presented in A&E department with small bowel ileus. He had a history of 6 similar episodes of small bowel obstruction in the past 4 years, which resolved with conservative treatment. Pre-operative work-up did not reveal any specific etiology. At laparotomy, a fibrous capsule was revealed, in which small bowel loops were encased, with the presence of interloop adhesions. A diagnosis of abdominal cocoon was established and extensive adhesiolysis was performed. The patient had an uneventful recovery and follow-up. Conclusion Idiopathic sclerosing encapsulating peritonitis, although rare, may be the cause of a common surgical emergency such as small bowel ileus, especially in cases with attacks of non-strangulating obstruction in the same individual. A high index of clinical suspicion may be generated by the recurrent character of small bowel ileus combined with relevant imaging findings and lack of other plausible etiologies. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a "surprise" upon laparotomy and result in proper management.

  3. Idiopathic sclerosing encapsulating peritonitis (or abdominal cocoon).

    Science.gov (United States)

    Serafimidis, Costas; Katsarolis, Ioannis; Vernadakis, Spyros; Rallis, George; Giannopoulos, George; Legakis, Nikolaos; Peros, George

    2006-02-13

    Idiopathic sclerosing encapsulating peritonitis (or abdominal cocoon) is a rare cause of small bowel obstruction, especially in adult population. Diagnosis is usually incidental at laparotomy. We discuss one such rare case, outlining the fact that an intra-operative surprise diagnosis could have been facilitated by previous investigations. A 56 year-old man presented in A&E department with small bowel ileus. He had a history of 6 similar episodes of small bowel obstruction in the past 4 years, which resolved with conservative treatment. Pre-operative work-up did not reveal any specific etiology. At laparotomy, a fibrous capsule was revealed, in which small bowel loops were encased, with the presence of interloop adhesions. A diagnosis of abdominal cocoon was established and extensive adhesiolysis was performed. The patient had an uneventful recovery and follow-up. Idiopathic sclerosing encapsulating peritonitis, although rare, may be the cause of a common surgical emergency such as small bowel ileus, especially in cases with attacks of non-strangulating obstruction in the same individual. A high index of clinical suspicion may be generated by the recurrent character of small bowel ileus combined with relevant imaging findings and lack of other plausible etiologies. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a "surprise" upon laparotomy and result in proper management.

  4. [Biologic therapy in idiopathic inflammatory myopathy].

    Science.gov (United States)

    Selva-O'Callaghan, Albert; Ramos Casals, Manel; Grau Junyent, Josep M

    2014-09-15

    The aim of this article is to study the evidence-based knowledge related to the use of biological therapies in patients diagnosed with idiopathic inflammatory myopathy (dermatomyositis, polymyositis and inclusion body myositis). In this review the leading published studies related to the use of biological therapy in patients with myositis are analysed; mainly those with high methodological standards, that means randomized and controlled studies. Methodological drawbacks due to the rarity and heterogeneity of these complex diseases are also addressed. Up to now is not possible to ascertain the biologics as a recommended therapy in patients with myositis, at least based in the current evidence-based knowledge, although it can not be neglected as a therapeutic option in some clinical situations, taking into account the scarce of effective treatments in those patients, especially in refractory myositis. Future studies probably will help to better define the role of biological therapies in patients with idiopathic inflammatory myopathy. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  5. Idiopathic Harlequin syndrome – case report

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    Marcelina Grochowiec

    2015-09-01

    Full Text Available Introduction. Harlequin syndrome is a very rare neurological condition characterized by redness and excessive sweating of one half of the face in response to exercise and emotions. In most cases this disorder is not life-threatening. Objective. To present diagnostic difficulties of Harlequin syndrome in dermatological practice. Case report. We present a case of a 30-year-old man with redness and excessive sweating of the right half of the face as a result of exercise that was observed during the diagnosis of chronic urticaria at the Department of Dermatology. The patient was examined ophthalmologically and neurologically, had a CT scan of the head, and the Minor test performed. Idiopathic Harlequin syndrome was diagnosed based on case history and workup results. Conclusions . Harlequin syndrome occurs most often in the form of an idiopathic condition, but neurologic and ophthalmologic assessment should be performed since some diseases, such as brainstem infarction and schwannoma of the upper chest, may initially appear as Harlequin syndrome.

  6. Quantitative electromyographic characteristics of idiopathic unilateral vocal fold paralysis.

    Science.gov (United States)

    Chang, Wei-Han; Fang, Tuan-Jen; Li, Hsueh-Yu; Jaw, Fu-Shan; Wong, Alice M K; Pei, Yu-Cheng

    2016-11-01

    Unilateral vocal fold paralysis with no preceding causes is diagnosed as idiopathic unilateral vocal fold paralysis. However, comprehensive guidelines for evaluating the defining characteristics of idiopathic unilateral vocal fold paralysis are still lacking. In the present study, we hypothesized that idiopathic unilateral vocal fold paralysis may have different clinical and neurologic characteristics from unilateral vocal fold paralysis caused by surgical trauma. Retrospective, case series study. Patients with unilateral vocal fold paralysis were evaluated using quantitative laryngeal electromyography, videolaryngostroboscopy, voice acoustic analysis, the Voice Outcome Survey, and the Short Form-36 Health Survey quality-of-life questionnaire. Patients with idiopathic and iatrogenic vocal fold paralysis were compared. A total of 124 patients were recruited. Of those, 17 with no definite identified causes after evaluation and follow-up were assigned to the idiopathic group. The remaining 107 patients with surgery-induced vocal fold paralysis were assigned to the iatrogenic group. Patients in the idiopathic group had higher recruitment of the thyroarytenoid-lateral cricoarytenoid muscle complex and better quality of life compared with the iatrogenic group. Idiopathic unilateral vocal fold paralysis has a distinct clinical presentation, with relatively minor denervation changes in the involved laryngeal muscles, and less impact on quality of life compared with iatrogenic vocal fold paralysis. 4. Laryngoscope, 126:E362-E368, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  7. Evidence for cognitive vestibular integration impairment in idiopathic scoliosis patients

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    Mercier Pierre

    2009-08-01

    Full Text Available Abstract Background Adolescent idiopathic scoliosis is characterized by a three-dimensional deviation of the vertebral column and its etiopathogenesis is unknown. Various factors cause idiopathic scoliosis, and among these a prominent role has been attributed to the vestibular system. While the deficits in sensorimotor transformations have been documented in idiopathic scoliosis patients, little attention has been devoted to their capacity to integrate vestibular information for cognitive processing for space perception. Seated idiopathic scoliosis patients and control subjects experienced rotations of different directions and amplitudes in the dark and produced saccades that would reproduce their perceived spatial characteristics of the rotations (vestibular condition. We also controlled for possible alteration of the oculomotor and vestibular systems by measuring the subject's accuracy in producing saccades towards memorized peripheral targets in absence of body rotation and the gain of their vestibulo-ocular reflex. Results Compared to healthy controls, the idiopathic scoliosis patients underestimated the amplitude of their rotations. Moreover, the results revealed that idiopathic scoliosis patients produced accurate saccades to memorized peripheral targets in absence of body rotation and that their vestibulo-ocular reflex gain did not differ from that of control participants. Conclusion Overall, results of the present study demonstrate that idiopathic scoliosis patients have an alteration in cognitive integration of vestibular signals. It is possible that severe spine deformity developed partly due to impaired vestibular information travelling from the cerebellum to the vestibular cortical network or alteration in the cortical mechanisms processing the vestibular signals.

  8. Recombinant follitropin alfa/lutropin alfa in fertility treatment

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    Ahmed Gibreel

    2009-12-01

    Full Text Available Ahmed Gibreel1, Siladitya Bhattacharya21School of Medicine and Dentistry, University of Aberdeen; 2Aberdeen Maternity Hospital, Aberdeen, UKAbstract: Recombinant human follicle stimulating hormone (rFSH and luteinizing hormone (LH, also known as follitropin alpha and lutropin alpha, are manufactured by genetic engineering techniques which ensure high quality and batch to batch consistency. Follitropin alpha can be used for controlled ovarian hyperstimulation in assisted reproduction, ovulation induction for WHO group I and II anovulatory infertility and in men with hypogonadotrophic hypogonadism (HH or idiopathic oligo-asthenospermia. Current evidence suggests superiority of urinary human menopausal gonadotropin (HMG over follitropin alpha in controlled ovarian hyperstimulation for IVF in terms of live birth rate per couple. Addition of lutropin to follitropin alpha in an unselected IVF population does not appear to confer any benefit; however, it may have a role in ovulation induction in women with hypothalamic hypogonadism. Urinary HMG preparations (especially currently available highly purified preparations are more cost effective than rFSH in terms of cost per ongoing pregnancy. However, women using rFSH injection pen devices have higher levels of satisfaction as compared to those using urinary HMG by means of conventional syringes.Keywords: infertility, follicle stimulating hormone, luteinizing hormone, follitropin alpha, lutropin alpha, in-vitro fertilization, urinary gonadotrophins

  9. Single photon emission computed tomography in children with idiopathic seizures

    International Nuclear Information System (INIS)

    Hara, Masafumi; Takahashi, Mutsumasa; Kojima, Akihiro; Shimomura, Osamu; Kinoshita, Rumi; Tomiguchi, Seiji; Taku, Keiichi; Miike, Teruhisa

    1991-01-01

    Single photon emission computed tomography (SPECT) with N-isoprophyl-p [ 123 I]-iodoamphetamine (IMP), X-ray computed tomography (X-CT), and magnetic resonance imaging (MRI) were performed in 20 children with idiopathic seizures. In children with idiopathic seizures, SPECT could detect the abnormal sites at the highest rate (45%) compared with CT (10%) and MRI (12%), but the abnormal sites on SPECT correlated poorly with the foci on electroencephalograph (EEG). Idiopathic epilepsy with hypoperfusion on SPECT was refractory to treatment and was frequently associated with mental and/or developmental retardation. Perfusion defects on SPECT scans probably affect the development and maturation of the brain in children. (author)

  10. Idiopath=ic Granulomatous Lobular Mastitis Masquerading as a Breast Tumor: A Case Report

    OpenAIRE

    Raman R, Thulasi; Manimaran, D

    2016-01-01

    Introduction Idiopathic granulomatous lobular mastitis (IGLM) is an inflammatory disease of the breast with an obscure etiology. It occurs mainly in women of reproductive age, and the lesion mimics carcinoma of the breast both clinically and radiologically Case Presentation We present the case of a 29-year-old female who visited our hospital in Kancheepuram, Tamil Nadu, with a 4 ? 3 cm lump in the upper outer quadrant of her left breast. The clinical and radiological findings were indicative ...

  11. Clinical review: Distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: critical appraisal of available diagnostic tests.

    Science.gov (United States)

    Harrington, Jennifer; Palmert, Mark R

    2012-09-01

    Determining the etiology of delayed puberty during initial evaluation can be challenging. Specifically, clinicians often cannot distinguish constitutional delay of growth and puberty (CDGP) from isolated hypogonadotropic hypogonadism (IHH), with definitive diagnosis of IHH awaiting lack of spontaneous puberty by age 18 yr. However, the ability to make a timely, correct diagnosis has important clinical implications. The aim was to describe and evaluate the literature regarding the ability of diagnostic tests to distinguish CDGP from IHH. A PubMed search was performed using key words "puberty, delayed" and "hypogonadotropic hypogonadism," and citations within retrieved articles were reviewed to identify studies that assessed the utility of basal and stimulation tests in the diagnosis of delayed puberty. Emphasis was given to a test's ability to distinguish prepubertal adolescents with CDGP from those with IHH. Basal gonadotropin and GnRH stimulation tests have limited diagnostic specificity, with overlap in gonadotropin levels between adolescents with CDGP and IHH. Stimulation tests using more potent GnRH agonists and/or human chorionic gonadotropin may have better discriminatory value, but small study size, lack of replication of diagnostic thresholds, and prolonged protocols limit clinical application. A single inhibin B level in two recent studies demonstrated good differentiation between groups. Distinguishing IHH from CDGP is an important clinical issue. Basal inhibin B may offer a simple, discriminatory test if results from recent studies are replicated. However, current literature does not allow for recommendation of any diagnostic test for routine clinical use, making this an important area for future investigation.

  12. Change in cytokine levels after administration of saikokaryuukotsuboreito or testosterone in patients with symptoms of late-onset hypogonadism.

    Science.gov (United States)

    Tsujimura, Akira; Miyagawa, Yasushi; Okuda, Hidenobu; Yamamoto, Keisuke; Fukuhara, Shinichiro; Nakayama, Jiro; Takao, Tetsuya; Nonomura, Norio; Okuyama, Akihiko

    2011-03-01

    The purpose of this study was to evaluate plasma cytokine levels after treatment with saikokaryukotsuboreito (SKRBT), which is a herbal medicine, or androgen replacement treatment (ART), for patients with late-onset hypogonadism (LOH)-related symptoms. Thirty-one patients over 40 years of age with LOH-related symptoms were included in this study. SKRBT was given orally three times daily to a total of 7.5 g/day for 15 eugonadal patients and ART was give to 16 hypogonadal patients by intramuscular injection of testosterone enanthate at 125 mg each time every 2 weeks. Plasma levels of testosterone and 18 cytokines, as well as LOH-related symptoms scored according to the Aging Males' Symptoms (AMS) scale, were compared before and more than 2 months after treatment. In the ART group, the total AMS score was decreased and testosterone was increased significantly after treatment. No cytokine variables were altered significantly after the treatment. In the SKRBT group, although the total AMS score was significantly decreased, testosterone did not change. From the evaluation of cytokines, a significant increase was found in interleukin (IL)- 8, IL-13, interferon-gamma and tumour necrosis factor-alpha. We conclude that SKRBT might improve LOH-related symptoms in eugonadal patients through the beneficial effect of cytokines, a mechanism that is quite different from ART.

  13. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; van Amstel, Hans Kristian Ploos

    Background We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  14. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; Ploos van Amstel, Hans Kristian

    2012-01-01

    Background We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  15. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, M.; van den Boogaard, M.J.; Sinke, R.; van Lieshout, S.; van Tuil, M.C.; Duran, K.; Renkens, I.; Terhal, P.A.; de Kovel, C.; Nijman, I.J.; van Haelst, M.; Knoers, N.V.; van Haaften, G.; Kloosterman, W.; Hennekam, R.C.; Cuppen, E.; Ploos van Amstel, H.K.

    2012-01-01

    BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  16. Examining the effect of the computer-based educational package on quality of life and severity of hypogonadism symptoms in males.

    Science.gov (United States)

    Afsharnia, Elahe; Pakgohar, Minoo; Khosravi, Shahla; Haghani, Hamid

    2018-06-01

    The objective of this study was to determine the effect of the computer-based educational package on men's QoL and the severity of their hypogonadism symptoms. A quasi-experimental study was conducted on 80 male employees. The data collection tool included the 'Aging Male Symptoms' (AMS) and 'Short Form-36' (SF36) questionnaires. Four sessions were held for the intervention group over a period of 4 weeks. Two months after training, QoL and the severity of hypogonadism symptoms were measured in both the intervention and control groups. The data were analyzed with SPSS 22 software and statistical tests, such as χ 2 , independent t-test, Fisher's exact test, and paired t-tests. Significant statistical changes were observed in the intervention group before and 2 months after the training in the QoL score in the overall dimensions of physical-psychological health and all its domains except for three domains of emotional role, social function, and pain. Furthermore, the paired t-tests showed significant differences between 2 months before and after the training in all the domains and the overall hypogonadism score in the intervention group. Based on our findings, the computer-based educational package has a positive effect on QoL and reduction of hypogonadism symptoms.

  17. Validation of the German version of the 'Hypogonadism Related Symptom Scale' (HRS) in andrological patients with infertility, HIV infection and metabolic syndrome.

    Science.gov (United States)

    Alidjanov, J; Wolf, J; Schuppe, H-C; Weidner, W; Diemer, T; Linn, T; Halefeldt, I; Wagenlehner, F; Wiltink, J; Pilatz, A

    2014-12-01

    As commonly used self-reported screening instruments for male hypogonadism demonstrated lack of specificity, a Hypogonadism Related Symptom Scale (HRS) was developed in 2009 as a novel self-rating screening tool. As the questionnaire has not been validated, the purpose of our study was to perform a validation in patients presenting with different disorders (e.g. infertility, HIV infection or metabolic syndrome) and disease-related risk to develop hypogonadism. Two hundred and eighteen patients aged 19-71 years (40.1 ± 9.5) who completed the HRS and other common questionnaires [International Index Of Erectile Function (IIEF), National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI), Hospital Anxiety and Depression Scale (HADS), short form (SF)-12] were included. In all patients, blood levels of total testosterone, luteinizing hormone, follicle-stimulating hormone, oestradiol and sex hormone-binding globulin were determined and free testosterone was calculated. Cronbach's α for the scale was 0.896, split-half 0.871 for the 1st half and 0.807 for the 2nd half. Spearman-Brown coefficient was 0.767, and Guttman split-half coefficient was 0.759. Consistent correlations were found between HRS and IIEF5 (ρ = 0.57, P males with suspected hypogonadism. © 2014 Blackwell Verlag GmbH.

  18. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

    NARCIS (Netherlands)

    de Smith, Adam J.; Purmann, Carolin; Walters, Robin G.; Ellis, Richard J.; Holder, Susan E.; Van Haelst, Mieke M.; Brady, Angela F.; Fairbrother, Una L.; Dattani, Mehul; Keogh, Julia M.; Henning, Elana; Yeo, Giles S. H.; O'Rahilly, Stephen; Froguel, Philippe; Farooqi, I. Sadaf; Blakemore, Alexandra I. F.

    2009-01-01

    Genetic studies in patients with severe early-onset obesity have provided insights into the molecular and physiological pathways that regulate body weight in humans. We report a 19-year-old male with hyperphagia and severe obesity, mild learning difficulties and hypogonadism, in whom diagnostic

  19. Chronic Idiopathic Neutrophilia in Two Twins

    Directory of Open Access Journals (Sweden)

    Roberto Miniero

    2014-01-01

    Full Text Available Neutrophilia in adults refers to an alteration in the total number of blood neutrophils that is in excess of about 7500 cells/μL. This definition is restrictive in childhood as neutrophil count is age-dependent. Chronic Idiopathic Neutrophilia (CIN refers to a condition that persists for many years in individuals who appear otherwise healthy. CIN is rarely mentioned in scientific literature and in academic books of hematology; only few words are dedicated to this topic. We report a case study of two twins with CIN followed from the first year of life to 24 years of age. To the best of our knowledge this is the first case report of two twins with CIN followed through a long period of time. We believe that our observation may contribute to better understand and characterize this hematologic abnormality.

  20. Radiographic manifestations of diffuse idiopathic skeletal hyperostosis

    International Nuclear Information System (INIS)

    Ono, Minoru; Kudo, Sho; Russell, W.J.

    1984-09-01

    A relatively high frequency of hyperostosis in various body sites was found in 240 subjects with ''diffuse idiopathic skeletal hyperostosis'' (DISH) in the thoracic spine over an average observation period of 11 years. The onset and initial appearance of DISH in the thoracic spine were identified in 69 cases. The age at onset ranged from 40 to 65 years, and the initial sites involved were usually T9-10 and T10-11. As criteria in differentiating DISH from spondylosis deformans the hyperostoses anterior to the vertebral body itself appeared to be more important than the ''bridges'' anterior to the intervertebral spaces. Although it was difficult to differentiate the early appearance of DISH from spondylosis deformans in some cases, these long-term observations suggest that they are different entities. (author)

  1. Imaging findings in idiopathic pelvic fibrosis

    International Nuclear Information System (INIS)

    Wiesner, W.; Bongartz, G.; Stoffel, F.

    2001-01-01

    Two patients presented with ureteric obstruction, and voiding symptoms and constipation, respectively, and were examined by means of intravenous urography and computed tomography. One patient was additionally examined by means of MR tomography. After CT (performed in both patients) and MRT (performed in one patient) had shown a diffuse, contrast-enhancing, infiltrating process in the small pelvis with infiltration of adjacent organs and vessels, surgical biopsy proved the diagnosis of idopathic pelvic fibrosis. Extension of retroperitoneal fibrosis below the pelvic rim is very rare. Clinical symptoms of pelvic fibrosis are variable and imaging findings may lead to a broad list of differential diagnoses. We present two patients with idiopathic pelvic fibrosis and discuss radiological findings and differential diagnoses of this rare disease. (orig.)

  2. Cognitive function in idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne Maria; Fagerlund, Birgitte; Forchhammer, Hysse Birgitte

    2014-01-01

    -up. At the time of testing, none of the patients took medication potentially affecting cognitive function. Controls were 31 healthy age-matched and sex-matched volunteers from the local community. OUTCOME MEASURES: Executive function, working memory, visuospatial memory, processing speed, attention and reaction......OBJECTIVE: To explore the extent and nature of cognitive deficits in patients with idiopathic intracranial hypertension (IIH) at the time of diagnosis and after 3 months of treatment. DESIGN: Prospective case-control study. SETTING: Neurological department, ophthalmological department...... time assessed by a comprehensive neuropsychological test battery consisting of validated computerised (Cambridge neuropsychological test automated battery) and paper-and-pencil tests. RESULTS: Patients with IIH performed significantly worse than controls in four of six cognitive domains (p≤0...

  3. Diffuse Idiopathic Skeletal Hyperosteosis: A Review

    Directory of Open Access Journals (Sweden)

    Sevgi İkbali Afşar

    2015-12-01

    Full Text Available Diffuse idiopathic skeletal hyperosteosis (DISH is also known as Forestier disease and is a systemic non-inflammatory disorder seen more commonly in males and elderly. It is characterized by calcification of the anterior longitudinal ligament of the vertebral column and various extraspinal ligaments. It is usually asymptomatic while the most common symptoms are spinal pain, limited range of spinal motion and dysphagia due to esophagus compression. The etiopathogenesis is not clear. It is commonly seen together with diabetes mellitus, obesity, hyperinsulinemia, hypertension and lipid and purine metabolism disorders, indicating an association with metabolic disorders. Recent studies have emphasized that the pathological calcification of the anterior longitudinal ligament plays a role in the pathophysiology. The aim of this study was to summarize new pathogenetic, clinical and therapeutic insights of this disease, based on published literature.

  4. Idiopathic precocious puberty in girls: Psychosexual development.

    Science.gov (United States)

    Meyer-Bahlburg, H F; Ehrhardt, A A; Bell, J J; Cohen, S F; Healey, J M; Feldman, J F; Morishima, A; Baker, S W; New, M I

    1985-08-01

    A promising model syndrome for the examination of the role of physical maturation in the development of female sexuality is idiopathic precocious puberty (IPP). In this first controlled study of psychosexual development in IPP females, 16 females between 13 and 20 years of age with a history of IPP were compared to 16 control subjects with a history of normal puberty pair-matched to the index subjects on the basis of sex, race, age, socioeconomic level, and menarcheal status. The psychosexual history and the current psychosexual status were assessed by a systematic half-structured interview. The IPP females on average passed the psychosexual milestones at an earlier age than their normal maturing peers, with a particularly early onset of masturbation. Those who were sociosexually active tended to report a higher total orgasmic outlet and a higher sex drive. There was no increase in homosexuality among IPP girls. The timing of puberty has a (modest) influence on psychosexual development in females.

  5. Malignant Hyperthermia and Idiopathic HyperCKemia

    Directory of Open Access Journals (Sweden)

    Pashtoon Murtaza Kasi

    2011-01-01

    Full Text Available Malignant hyperthermia (MH is a rare but life-threatening condition that is more frequently encountered and discussed within the anesthesia literature. Here we through a case specifically discuss the susceptibility of individuals and/or families with asymptomatic unexplained elevations of creatine kinase (CK, also frequently referred to as hyperCKemia or idiopathic hyperCKemia (IHCK in recent reports. The clinical implications would be to underscore the importance of this as a susceptibility to developing MH and highlight the importance of genetic susceptibility testing in such cases. Anesthesiologists and critical care intensivists as well as primary care physicians should keep this in mind when seeing patients with asymptomatic hyperCKemia and potentially inform them about the possibility of developing MH if exposed to triggering agents. Genetic susceptibility testing should be considered if available and family members should also receive nontriggering agents when undergoing anesthesia and wear Medic Alert tags.

  6. Dysphagia due to Diffuse Idiopathic Skeletal Hyperostosis

    Directory of Open Access Journals (Sweden)

    Masafumi Ohki

    2012-01-01

    Full Text Available Diffuse idiopathic skeletal hyperostosis (DISH is usually asymptomatic. However, rarely, it causes dysphagia, hoarseness, dyspnea, snoring, stridor, and laryngeal edema. Herein, we present a patient with DISH causing dysphagia. A 70-year-old man presented with a 4-month history of sore throat, dysphagia, and foreign body sensation. Flexible laryngoscopy revealed a leftward-protruding posterior wall in the hypopharynx. Computed tomography and magnetic resonance imaging revealed a bony mass pushing, anteriorly, on the posterior hypopharyngeal wall. Ossification included an osseous bridge involving 5 contiguous vertebral bodies. Dysphagia due to DISH was diagnosed. His symptoms were relieved by conservative therapy using anti-inflammatory drugs. However, if conservative therapy fails and symptoms are severe, surgical treatments must be considered.

  7. Imaging findings in idiopathic pelvic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Wiesner, W.; Bongartz, G. [Inst. of Diagnostic Radiology University Hospital Basel (Switzerland); Stoffel, F. [Inst. of Urology, University Hospital Basel (Switzerland)

    2001-04-01

    Two patients presented with ureteric obstruction, and voiding symptoms and constipation, respectively, and were examined by means of intravenous urography and computed tomography. One patient was additionally examined by means of MR tomography. After CT (performed in both patients) and MRT (performed in one patient) had shown a diffuse, contrast-enhancing, infiltrating process in the small pelvis with infiltration of adjacent organs and vessels, surgical biopsy proved the diagnosis of idopathic pelvic fibrosis. Extension of retroperitoneal fibrosis below the pelvic rim is very rare. Clinical symptoms of pelvic fibrosis are variable and imaging findings may lead to a broad list of differential diagnoses. We present two patients with idiopathic pelvic fibrosis and discuss radiological findings and differential diagnoses of this rare disease. (orig.)

  8. Proton MR spectroscopy in idiopathic spasmodic torticollis

    Energy Technology Data Exchange (ETDEWEB)

    Federico, F.; Lucivero, V.; Simone, I.L.; Defazio, G.; De Salvia, R.; Mezzapesa, D.M.; Petruzzellis, M.; Tortorella, C.; Livrea, P. [Dept. of Neurology and Psychiatry, Bari (Italy)

    2001-07-01

    Single-voxel proton magnetic resonance spectroscopy ({sup 1}H-MRS), localised to the basal ganglia, was used to determine changes in metabolite levels in idiopathic spasmodic torticollis (IST). We examined nine patients and 13 healthy subjects. The mean values ({+-} SD) of peak area ratios were: IST: N-acetyl-aspartate (NAA)/choline-containing compounds (Cho) 1.79 {+-} 0.39, NAA/creatine and phosphocreatine compounds (Cr) 1.61 {+-} 0.38, Cho/Cr 0.91 {+-} 0.19; controls: NAA/Cho 2.07 {+-} 0.35, NAA/Cr 1.82 {+-} 0.31, Cho/Cr 0.89 {+-} 0.12. Statistical analysis showed that NAA/Cho and NAA/Cr were significantly lower in patients than in controls (P = 0.0304 and 0.0431, respectively). These results indicate a reduction in NAA, and suggest striatal involvement in the pathogenesis IST. (orig.)

  9. Managing comorbidities in idiopathic pulmonary fibrosis

    Science.gov (United States)

    Fulton, Blair G; Ryerson, Christopher J

    2015-01-01

    Major risk factors for idiopathic pulmonary fibrosis (IPF) include older age and a history of smoking, which predispose to several pulmonary and extra-pulmonary diseases. IPF can be associated with additional comorbidities through other mechanisms as either a cause or a consequence of these diseases. We review the literature regarding the management of common pulmonary and extra-pulmonary comorbidities, including chronic obstructive pulmonary disease, lung cancer, pulmonary hypertension, venous thromboembolism, sleep-disordered breathing, gastroesophageal reflux disease, coronary artery disease, depression and anxiety, and deconditioning. Recent studies have provided some guidance on the management of these diseases in IPF; however, most treatment recommendations are extrapolated from studies of non-IPF patients. Additional studies are required to more accurately determine the clinical features of these comorbidities in patients with IPF and to evaluate conventional treatments and management strategies that are beneficial in non-IPF populations. PMID:26451121

  10. Lung Fibroblasts, Aging, and Idiopathic Pulmonary Fibrosis.

    Science.gov (United States)

    Pardo, Annie; Selman, Moisés

    2016-12-01

    Idiopathic pulmonary fibrosis (IPF) is an aging-associated, progressive, and irreversible lung disease of unknown etiology, elusive pathogenesis, and very limited therapeutic options. The hallmarks of IPF are aberrant activation of alveolar epithelial cells and accumulation of fibroblasts and myofibroblasts along with excessive production of extracellular matrix. The linkage of aging with this disorder is uncertain, but a number of changes associated with aging, including telomere attrition, cell senescence, and mitochondrial dysfunction, have been revealed in IPF lungs. Also, aging seems to confer a profibrotic phenotype upon fibroblasts and to increase the severity of the fibrogenic response in non-IPF fibrotic lung disorders. Better knowledge of the pathophysiological mechanisms linking aging to IPF will advance understanding of its pathogenesis and may provide new therapeutic windows to treatment of this devastating disease.

  11. Molecular biomarkers in idiopathic pulmonary fibrosis

    Science.gov (United States)

    Ley, Brett; Brown, Kevin K.

    2014-01-01

    Molecular biomarkers are highly desired in idiopathic pulmonary fibrosis (IPF), where they hold the potential to elucidate underlying disease mechanisms, accelerated drug development, and advance clinical management. Currently, there are no molecular biomarkers in widespread clinical use for IPF, and the search for potential markers remains in its infancy. Proposed core mechanisms in the pathogenesis of IPF for which candidate markers have been offered include alveolar epithelial cell dysfunction, immune dysregulation, and fibrogenesis. Useful markers reflect important pathological pathways, are practically and accurately measured, have undergone extensive validation, and are an improvement upon the current approach for their intended use. The successful development of useful molecular biomarkers is a central challenge for the future of translational research in IPF and will require collaborative efforts among those parties invested in advancing the care of patients with IPF. PMID:25260757

  12. [Idiopathic rabbit syndrome: a case report].

    Science.gov (United States)

    Miwa, H; Sasaki, Y; Hatori, K; Tanaka, S; Mizuno, Y

    1999-10-01

    We report a patient with idiopathic oromandibular tremor resembling rabbit syndrome. The patient is a 36-year-old Japanese woman without any past and medical histories. On neurological examination, there was no abnormal finding except the oromandibular tremor. The tremor was confined to the jaw and perioral muscles. There was no extremity tremor. Laboratory findings were all normal, as well as her MRI and EEG. Surface EMG studies revealed that regular grouped discharges at a frequency of about 6 Hz appeared in the masseter, the orbicularis oris, and the digastric, and that the alternative contractions were found between the masseter and the digastric. Oral administration of tiapride was effective, but diazepam, trihexyphenydil, levodopa, and a beta-blocker were without effect. Although she had not taken neuroleptics, the appearance of the tremor was identical to the rabbit syndrome. The efficacy of the dopamine blockade may suggest that an abnormal basal ganglia function contributes to the pathophysiologic mechanism underlying this type of tremor.

  13. Neocortical gamma oscillations in idiopathic generalized epilepsy

    DEFF Research Database (Denmark)

    Benedek, Krisztina; Berenyi, Antal; Gombkoto, Peter

    2016-01-01

    Objective: Absence seizures in patients with idiopathic generalized epilepsy (IGE) may in part be explained by a decrease in phasic GABAA (type-A c-aminobutyric acid) receptor function, but the mechanisms are only partly understood. Here we studied the relation between ictal and interictal spike......-wave discharges (SWDs) and electroencephalography (EEG) gamma oscillatory activity (30-60 Hz) in patients with IGE. Methods: EEG recordings were obtained of 14 children with IGE (mean age, 8.5 +/- 5 years) and 14 age-and sex-matched controls. Time-frequency analysis of each seizure and seizure-free control epochs...... was performed and cross-coherences of neocortical gamma oscillations were calculated to describe interictal and ictal characteristics of generalized seizures. Results: SWDs were characterized with an abrupt increase of oscillatory activity of 34 and 13-60 Hz, peaking at 3-4 and 30-60 Hz, and with a simultaneous...

  14. Idiopathic interstitial pneumonias: radiologic-pathologic correlation

    International Nuclear Information System (INIS)

    Yoon, Young Cheol; Suh, Gee Young; Han, Joung Ho; Lee, Kyung Soo

    2002-01-01

    Idiopathic interstitial pneumonias are at present classified as one of four types: usual, nonspecific, acute, or desquamative. The acute form has the worst prognosis, followed by the usual and the nonspecific form; it is in desquamative cases that prognosis is best. At high-resolution CT, usual interstitial pneumonia, the most frequent type, manifests as patchy subpleural areas of ground-glass attenuation, irregular linear opacity, and honeycombing, which the nonspecific type, the second most frequent, appears as subpleural patchy areas of ground-glass attenuation with associated areas of irregular linear opacity. Acute interstitial pneumonia demonstrates extensive bilateral airspace consolidation and patchy or diffuse bilateral areas of ground-glass attenuation in middle and lower lung zones

  15. The lived experience with idiopathic pulmonary fibrosis

    DEFF Research Database (Denmark)

    Overgaard, Dorthe; Kaldan, Gudrun; Marsaa, Kristoffer

    2016-01-01

    caregivers. Both patients and family caregivers face an altered life as the disease progresses. The aim of our study was to increase knowledge of life with IPF for patients and family caregivers.This study had a qualitative descriptive design using in-depth dyadic interviews with IPF patients (n=25......) and family caregivers (n=24). We used the five-step analysis from the framework method and analysed the data on three levels: the patient, the family caregivers and couple level.The following six themes emerged as the main results: information and disclosure, reactional dyssynchrony, perpetual vigilance......The disease course in idiopathic pulmonary fibrosis (IPF) is variable, but patients experience a progressive decline in lung function and increased symptom burden leading to death. Little is known about the patients' experience and their needs during the disease course or about the burden on family...

  16. PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

    Directory of Open Access Journals (Sweden)

    A. Nickavar

    2006-09-01

    Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

  17. Idiopathic intracranial hypertension, hormones, and 11β-hydroxysteroid dehydrogenases

    DEFF Research Database (Denmark)

    Markey, Keira A; Uldall, Maria; Botfield, Hannah

    2016-01-01

    Idiopathic intracranial hypertension (IIH) results in raised intracranial pressure (ICP) leading to papilledema, visual dysfunction, and headaches. Obese females of reproductive age are predominantly affected, but the underlying pathological mechanisms behind IIH remain unknown. This review provi...

  18. Diffuse idiopathic skeletal hyperostosis: case report and literature ...

    African Journals Online (AJOL)

    Diffuse idiopathic skeletal hyperostosis: case report and literature review. ... NSAIDs, local applications and physiotherapy, might also prove to be useful in patients with ... He had no history of peripheral joint involvement, fevers, cough, bowel ...

  19. Clinical characteristics and outcomes of familial and idiopathic ...

    African Journals Online (AJOL)

    Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: A comparative study of 120 cases followed up over 14 years. NBA Ntusi, M Badri, F Gumedze, A Wonkam, BM Mayosi ...

  20. A Case Study on Idiopathic Orbital Pseudotumor: Surgery and ...

    African Journals Online (AJOL)

    one year revealed a gradual improvement in the vision of all the patients. The VA of the right eye for all the patients ... Hunt syndrome, pituitary histiocytosis, idiopathic meningitis ... computer tomography (CT) and magnetic resonance imaging ...

  1. Idiopathic Pulmonary Calcification and Ossification in an Elderly ...

    African Journals Online (AJOL)

    Histology of tissue from autopsy showed intraparenchymal pulmonary calcification and ossification with marrow elements. Idiopathic pulmonary calcification and ossification is rare. At autopsy, she was also found to have had bilateral subarachnoid haemorrhage (SAH), a diagnosis missed during clinical evaluation.

  2. Idiopathic Hypoparathyroidism Mimicking Ankylosing Spondylitis: A Case Report

    Directory of Open Access Journals (Sweden)

    Ozge Illeez Memetoglu

    2016-01-01

    Full Text Available Idiopathic hypoparathyroidism, inadequate secretion of parathyroid hormone of unknown etiology, may mimic ankylosing spondylitis both clinically and radiologically. Spinal complaints may be the first sign of any endocrinological disorder.

  3. Computed tomography in the assessment of idiopathic spontaneous pneumothorax

    International Nuclear Information System (INIS)

    Kim, Sang Jin; Lee, Doo Yun; Kim, Hyung Jung

    1991-01-01

    It is well known that idiopathic spontaneous pneumothorax is caused by rupture of the subpleural bleb and presents difficulty in exact detection and localization of the bleb with plain chest X - ray alone. The authors performed chest CT scans for accurate diagnosis of bleb that would act as a guide for optimal management of idiopathic spontaneous pneumothorax patients in order to prevent recurrent pneumothorax. We could detect blebs in 93 % (26/28) of the patients with idiopathic spontaneous pneumothorax, and 68 % (19/ 28) of the patient had bilateral blebs. Sensitivity was 0.63, and false negative was 37% (37/100) of the blebs, and 51% (19/37) of these 37 false negative cases were ruptured blebs. Only 7 % (2/28) of the patients had a single bleb. The authors concluded that CT is a useful method of study for optimal management of idiopathic spontaneous pneumothorax patients

  4. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mar Carrion Martin, Maria del [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Ruiz Santiago, Fernando, E-mail: ferruizsan@terra.e [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Pozuelo Calvo, Rocio [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Guzman Alvarez, Luis [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain)

    2010-07-15

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20{sup o} and 30{sup o} of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  5. Guidelines for the medical treatment of idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Xaubet, Antoni; Molina-Molina, María; Acosta, Orlando; Bollo, Elena; Castillo, Diego; Fernández-Fabrellas, Estrella; Rodríguez-Portal, José Antonio; Valenzuela, Claudia; Ancochea, Julio

    2017-05-01

    Idiopathic pulmonary fibrosis is defined as chronic fibrosing interstitial pneumonia limited to the lung, with poor prognosis. The incidence has been rising in recent years probably due to improved diagnostic methods and increased life expectancy. In 2013, the SEPAR guidelines for the diagnosis and treatment for idiopathic pulmonary fibrosis were published. Since then, clinical trials and meta-analyses have shown strong scientific evidence for the use of pirfenidone and nintedanib in the treatment of idiopathic pulmonary fibrosis. In 2015, the international consensus of 2011 was updated and new therapeutic recommendations were established, prompting us to update our recommendation for the medical treatment of idiopathic pulmonary fibrosis accordingly. Diagnostic aspects and non-pharmacological treatment will not be discussed as no relevant developments have emerged since the 2013 guidelines. Copyright © 2017 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Structural white matter abnormalities in patients with idiopathic dystonia

    NARCIS (Netherlands)

    Bonilha, Leonardo; de Vries, Paulien M.; Vincent, Diana J.; Rorden, Chris; Morgan, Paul S.; Hurd, Mark W.; Besenski, Nada; Bergmann, Kenneth J.; Hinson, Vanessa K.

    2007-01-01

    We investigated whether structural white matter abnormalities, in the form of disruption of axonal coherence and integrity as measured with diffusion tensor imaging (DTI), constitute an underlying pathological mechanism of idiopathic dystonia (ID), independent of genotype status. We studied seven

  7. The pattern of juvenile idiopathic arthritis; a retrospective Egyptian ...

    African Journals Online (AJOL)

    Ehab

    subtype specially at rural areas which differed from Western and Gulf countries pattern. ... version 18) and the following statistical measures ..... the results of Abdwani et al27 at 2015 (an Omani ... Ravelli A, Martini A. Juvenile idiopathic arthritis.

  8. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

    International Nuclear Information System (INIS)

    Mar Carrion Martin, Maria del; Ruiz Santiago, Fernando; Pozuelo Calvo, Rocio; Guzman Alvarez, Luis

    2010-01-01

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20 o and 30 o of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  9. Evaluation of classification systems for nonspecific idiopathic orbital inflammation

    NARCIS (Netherlands)

    Bijlsma, Ward R.; van 't Hullenaar, Fleur C.; Mourits, Maarten P.; Kalmann, Rachel

    2012-01-01

    To systematically analyze existing classification systems for idiopathic orbital inflammation (IOI) and propose and test a new best practice classification system. A systematic literature search was conducted to find all studies that described and applied a classification system for IOI.

  10. Idiopathic Syringomyelia in a Military Helicopter Pilot.

    Science.gov (United States)

    Schiemer, Anthony

    2017-10-01

    A syrinx is a fluid-filled cavity within the spinal cord. They can lead to a variety of symptoms, including limb weakness and back pain. Incidental finding of syringomyelia provides a challenge for clinicians due to the wide variety of possible symptoms. In military aviation, neurological findings in pilots can result in extensive investigation that can lead to potentially invasive management. Conversely, the potential for chronic progression of a spinal syrinx and subsequent neurological deterioration makes early identification critical. Ultimately, the discovery of a lesion may have implications for flying status and operational capability. A 25-yr-old man working as a navy Seahawk helicopter pilot presented with episodes of right arm paraesthesia and pain between the scapulae. On at least one occasion, these symptoms woke him at night. Upon magnetic resonance imaging, dilatation of the central canal in a syrinx-like pattern in the lower cervical region was noted. Neurology review suggested the finding was persistent and unlikely to be responsible for his symptoms. No surgical input was recommended. His symptoms were attributed to mild cervical spondylosis, which resolved with ongoing physiotherapy, and he was returned to flying status. This case highlights several issues involved with the incidental finding of a syringomyelia. Surgical intervention has been known to worsen symptoms. Conversely, studies have identified minimal radiological progression in cases of idiopathic syringomyelia, with fewer individuals displaying neurological deterioration. For aircrew, potentially unnecessary neurosurgical intervention poses risks to a flying career and overall operational capability.Schiemer A. Idiopathic syringomyelia in a military helicopter pilot. Aerosp Med Hum Perform. 2017; 88(10):962-965.

  11. Surgical treatment analysis of idiopathic esophageal achalasia.

    Science.gov (United States)

    Aquino, José Luis Braga de; Said, Marcelo Manzano; Pereira, Douglas Rizzanti; Amaral, Paula Casals do; Lima, Juliana Carolina Alves; Leandro-Merhi, Vânia Aparecida

    2015-01-01

    Idiopathic esophageal achalasia is an inflammatory disease of unknown origin, characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter in response to swallowing, with consequent dysphagia. To demonstrate the results of surgical therapy in these patients, evaluating the occurred local and systemic complications. Were studied retrospectively 32 patients, 22 of whom presented non-advanced stage of the disease (Stage I/II) and 10 with advanced disease (Stage III/IV). All of them had the clinical conditions to be submitted to surgery. The diagnoses were done by clinical, endoscopic, cardiological, radiological and esophageal manometry analysis. Pre-surgical evaluation was done with a questionnaire based on the most predisposing factors in the development of the disease and the surgical indication was based on the stage of the disease. The patients with non-advanced stages were submitted to cardiomyotomy with fundoplication, wherein in the post-surgical early assessment, only one (4,4%) presented pulmonary infection, but had a good outcome. In patients with advanced disease, seven were submitted to esophageal mucosectomy preserving the muscular layer, wherein one patient (14,2%) presented dehiscence of gastric cervical esophagus anastomosis as well as pulmonary infection; all of these complications were resolved with proper specific treatment; the other three patients with advanced stage were submitted to transmediastinal esophagectomy; two of them presented hydropneumothorax with good evolution, and one of them also presented fistula of the cervical esophagogastric anastomosis, but with spontaneous healing after conservative treatment and nutritional support. The two patients with fistula of the cervical anastomosis progressed to stenosis, with good results after endoscopic dilations. In the medium and long term assessment done in 23 patients, all of them reported improvement in life quality, with return to swallowing. The

  12. Idiopathic Bilateral External Jugular Vein Thrombosis.

    Science.gov (United States)

    Hindi, Zakaria; Fadhel, Ehab

    2015-08-20

    Vein thrombosis is mainly determined by 3 factors, which constitute a triad called Virchow's triad: hypercoagulability, stasis, and endothelial injury. Venous thrombosis commonly occurs in the lower extremities since most of the blood resides there and flows against gravity. The veins of the lower extremities are dependent on intact valves and fully functional leg muscles. However, in case of valvular incompetency or muscular weakness, thrombosis and blood stasis will occur as a result. In contrast, the veins of the neck, specially the jugulars, have distensible walls which allow flexibility during respiration. In addition, the blood directly flows downward towards the heart. Nevertheless, many case reports mentioned the thrombosis of internal jugular veins and external jugular veins with identified risk factors. Jugular vein thrombosis has previously been associated in the literature with a variety of medical conditions, including malignancy. This report is of a case of idiopathic bilateral external jugular vein thrombosis in a 21 year-old male construction worker of Southeast Asian origin with no previous medical history who presented with bilateral facial puffiness of gradual onset over 1 month. Doppler ultrasound and computed tomography were used in the diagnosis. Further work-up showed no evidence of infection or neoplasia. The patient was eventually discharged on warfarin. The patient was assessed after 6 months and his symptoms had resolved completely. Bilateral idiopathic external jugular veins thrombosis is extremely rare and can be an indicator of early malignancy or hidden infection. While previous reports in the literature have associated jugular vein thrombosis with malignancy, the present case shows that external jugular vein thrombosis can also be found in persons without malignancy.

  13. Anticoagulation period in idiopathic venous thromboembolism

    International Nuclear Information System (INIS)

    Farraj, Rami S.

    2004-01-01

    The period of anticoagulation of a first episode of idiopathic venous thromboembolism has been 6 months. It is unclear if such patients would benefit from longer treatment, as there appears to be an increased risk of recurrence after anticoagulation is stopped. In a randomized prospective study of 64 patients admitted to King Hussein Medical city, Amman, Jordan, who developed a first episode of venous thromboembolism, 32 patients were given warfarin for 24-months, while 32 patients stopped anticoagulation after completion of 6-months of therapy. Our goal was to determine the effects of extended anticoagulation on rates of recurrence of symptomatic venous thromboembolism and bleeding. The patients were followed for 12-months after stopping anticoagulation. After 24-months, 7 of the 32 patients (21%) who had standard anticoagulation for 6-months had a recurrent episode of thromboembolism compared to one of the 32 patients who received anticoagulation for 24 months (3%). Extended warfarin therapy for 24-months has resulted in an absolute risk reduction of 0.1% (p<0.05). This translates into 8 patients having to be treated for 24-months to avoid one recurrence without increasing the risk of major bleeding. Two patients in each group (6%) had major nonfatal bleeding, all 4 bleeding episodes occurring within the first 3-months of anticoagulation. After 36-months of follow up, the recurrence rate of extended warfarin therapy was only 3 patients (9%), which is a 43% relative reduction in recurrence of thromboembolism compared to standard therapy for 6-months. Patients with first episodes of idiopathic venous thromboembolism have an increased risk of recurrent venous thromboembolism and should be treated with oral anticoagulants for longer than 6-months, probably 24-months. (author)

  14. Microcatheter Embolization of Intractable Idiopathic Epistaxis

    International Nuclear Information System (INIS)

    Leppaenen, Martti; Seppaenen, Seppo; Laranne, Jussi; Kuoppala, Katriina

    1999-01-01

    Purpose: To assess the efficacy and safety of microcatheter embolization in the treatment of intractable idiopathic epistaxis. Methods: Thirty-seven patients underwent microcatheter embolization in 1991-1998. We evaluated retrospectively the technical and clinical outcome, the number of complications, the duration of embolization in each case, and the number of blood transfusions needed. All embolizations were done with biplane digital subtraction angiography (DSA) equipment. The procedure was carried out under local anesthesia using transfemoral catheterization, except in one case where the translumbar route was used. Tracker 18 or 10 microcatheters were advanced as far as possible to the distal branches of the sphenopalatine artery. Polyvinyl alcohol (PVA) particles were used for embolization in most cases, while platinum coils or a combination of these two materials were occasionally used. The primary outcome was always assessed immediately by angiography. Follow-up data were obtained from patient records, by interviewing patients on the telephone or by postal questionnaires when necessary. The mean follow-up time was 21 months. Results: The embolization was technically successful in all 37 cases. A curative outcome was achieved in 33 cases (89%). The mean duration of the procedure was 110 min. Four patients (8%) had mild transient complications, but no severe or persistent complications were encountered. Twenty-three patients needed a blood transfusion. Slight rebleeding occurred in three patients during the follow-up; all responded to conservative treatment. One patient suffered two episodes of rebleeding within 2 months after primary embolization. Re-embolizations successfully stopped the bleeding. Conclusion: Embolization is the primary invasive modality for treating intractable idiopathic epistaxis. It proved both safe and effective over a relatively long follow-up

  15. Effects of estradiol and FSH on maturation of the testis in the hypogonadal (hpg mouse

    Directory of Open Access Journals (Sweden)

    Mayhew Terry M

    2008-01-01

    Full Text Available Abstract Background The hypogonadal (hpg mouse is widely used as an animal model with which to investigate the endocrine regulation of spermatogenesis. Chronic treatment of these GnRH-deficient mice with estradiol is known to induce testicular maturation and restore qualitatively normal spermatogenesis. The aim of the current studies was to investigate whether these effects of estradiol are direct effects in the testis, or indirect actions via paradoxical stimulation of FSH secretion from the pituitary gland. Methods Initially, Western blot and immunohistochemistry were used to analyse tissues from hpg mice to identify potential sites of action of estradiol. In the main study, hpg mice were treated for 50 days with either an estradiol implant or daily injections of recombinant human FSH, or a combination of both, to determine whether estradiol would have an additive or synergistic effect with FSH on testis development, as assessed by histological analysis and stereological quantification of Leydig, Sertoli and germ cell proliferation. Results Western blot analysis revealed ERα immunoreactive bands of appropriate molecular weight in extracts of testis and pituitary glands from hpg mice, and immunohistochemical studies confirmed ERα in nuclei of anterior pituitary cells and Leydig and peritubular cells in hpg mice. Histological and morphometric analyses revealed that estradiol treatment alone was as effective as FSH in promoting Sertoli cell production and proliferation of the seminiferous epithelium, resulting in the production of elongating spermatids. Combined estradiol and FSH treatment did not produce a greater effect than either treatment alone, though an increased dose of FSH significantly increased seminiferous tubule volume and testis weight and increase Sertoli cell numbers further within the same time frame. In contrast, estradiol caused substantial increases in the wet weight of the seminal vesicles, whereas FSH was without effect on

  16. Idiopathic focal epilepsies: the "lost tribe".

    Science.gov (United States)

    Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

    2016-09-01

    The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The

  17. Repressive coping and alexithymia in idiopathic environmental intolerance

    DEFF Research Database (Denmark)

    Skovbjerg, Sine; Zachariae, Robert; Rasmussen, Alice

    2010-01-01

    To examine if the non-expression of negative emotions (i.e., repressive coping) and differences in the ability to process and regulate emotions (i.e., alexithymia) is associated with idiopathic environmental intolerance (IEI).......To examine if the non-expression of negative emotions (i.e., repressive coping) and differences in the ability to process and regulate emotions (i.e., alexithymia) is associated with idiopathic environmental intolerance (IEI)....

  18. A CASE OF IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION IN MALE

    OpenAIRE

    Poongavanam Paranthaman; Ramani Bala Subra Manian; Thenrajan Balaji; Jayakrishnan Jayakumar; Govindaraj Ranjani

    2016-01-01

    Primary Pulmonary Hypertension is a rare disease occurring in 1-2 per million population. It is 2-4 times more common in female. Idiopathic or primary pulmonary hypertension is defined as a disorder with no identifiable cause in which resting mean pulmonary artery pressure in adults is above 25 mmHg and 30 mmHg with exercise. Idiopathic or primary pulmonary hypertension is diagnosed after ruling out all the possible secondary causes of pulmonary hypertension. We are presenting a ...

  19. MUSCLE DISORDERS IN ADOLESCENT IDIOPATHIC SCOLIOSIS: LITERATURE REVIEW

    OpenAIRE

    Débora Pinheiro Lédio Alves; Barbara de Araújo

    2016-01-01

    ABSTRACT Scoliosis is characterized by three-dimensional changes of the spine and is estimated to be present in 4% of the population worldwide. The most common form is the adolescent idiopathic. The purpose of this study is to identify the major muscle abnormalities found in patients with adolescent idiopathic scoliosis through a literature review. We conducted an electronic search of the national databases PubMed, Lilacs, PEDro, and EMBASE using the keywords "scoliosis", "biomechanics", "exe...

  20. CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

    DEFF Research Database (Denmark)

    Einarsdottir, Elisabet; Grauers, Anna; Wang, Jingwen

    2017-01-01

    and the US. No association was found to variants in CELSR1 or CELSR3. Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish......-Danish population. Both variants are located in the highly conserved GAIN protein domain, which is necessary for the auto-proteolysis of CELSR2, suggesting its functional importance....

  1. Sleepiness in Idiopathic REM Sleep Behavior Disorder and Parkinson Disease.

    Science.gov (United States)

    Arnulf, Isabelle; Neutel, Dulce; Herlin, Bastien; Golmard, Jean-Louis; Leu-Semenescu, Smaranda; Cochen de Cock, Valérie; Vidailhet, Marie

    2015-10-01

    To determine whether patients with idiopathic and symptomatic RBD were sleepier than controls, and if sleepiness in idiopathic RBD predicted earlier conversion to Parkinson disease. The Epworth Sleepiness Scale (ESS) and its determinants were compared at the time of a video-polysomnography for an RBD diagnosis in patients with idiopathic RBD, in patients with Parkinson disease, and in controls. Whether sleepiness at time of RBD diagnosis predicted an earlier conversion to neurodegenerative diseases was retrospectively analyzed in the followed-up patients. The 75 patients with idiopathic RBD were sleepier (ESS: 7.8 ± 4.6) at the time of RBD diagnosis than 74 age- and sex-matched controls (ESS: 5.0 ± 3.6, P sleep measures. Among the 69 patients with idiopathic RBD who were followed up for a median 3 years (1-15 years), 16 (23.2%) developed parkinsonism (n = 6), dementia (n = 6), dementia plus parkinsonism (n = 2), and multiple system atrophy (n = 2). An ESS greater than 8 at time of RBD diagnosis predicted a shorter time to phenoconversion to parkinsonism and dementia, from RBD onset, and from RBD diagnosis (when adjusted for age and time between RBD onset and diagnosis). Sleepiness is associated with idiopathic REM sleep behavior disorder and predicts more rapid conversion to parkinsonism and dementia, suggesting it is an early marker of neuronal loss in brainstem arousal systems. © 2015 Associated Professional Sleep Societies, LLC.

  2. Obesity is a significant susceptibility factor for idiopathic AA amyloidosis.

    Science.gov (United States)

    Blank, Norbert; Hegenbart, Ute; Dietrich, Sascha; Brune, Maik; Beimler, Jörg; Röcken, Christoph; Müller-Tidow, Carsten; Lorenz, Hanns-Martin; Schönland, Stefan O

    2018-03-01

    To investigate obesity as susceptibility factor in patients with idiopathic AA amyloidosis. Clinical, biochemical and genetic data were obtained from 146 patients with AA amyloidosis. Control groups comprised 40 patients with long-standing inflammatory diseases without AA amyloidosis and 56 controls without any inflammatory disease. Patients with AA amyloidosis had either familial Mediterranean fever (FMF) or long-standing rheumatic diseases as underlying inflammatory disease (n = 111, median age 46 years). However, in a significant proportion of patients with AA amyloidosis no primary disease was identified (idiopathic AA; n = 37, median age 60 years). Patients with idiopathic AA amyloidosis were more obese and older than patients with AA amyloidosis secondary to FMF or rheumatic diseases. Serum leptin levels correlated with the body mass index (BMI) in all types of AA amyloidosis. Elevated leptin levels of more than 30 µg/l were detected in 18% of FMF/rheumatic + AA amyloidosis and in 40% of patients with idiopathic AA amyloidosis (p = .018). Finally, the SAA1 polymorphism was confirmed as a susceptibility factor for AA amyloidosis irrespective of the type of the disease. Obesity, age and the SAA1 polymorphism are susceptibility factors for idiopathic AA amyloidosis. Recent advances in treatment of FMF and rheumatic disorders will decrease the incidence of AA amyloidosis due to these diseases. Idiopathic AA, however, might be an emerging problem in the ageing and increasingly obese population.

  3. Relieving idiopathic dental pain without drugs

    Directory of Open Access Journals (Sweden)

    Haryono Utomo

    2011-06-01

    Full Text Available Background: Teeth are commonly obvious source of orofacial pain. Sometimes the pain source is undetectable, thus called as idiopathic dental pain. Since dentist wants to alleviate or eliminate the pains with every effort in their mind, a lot of drugs could be prescribed. Moreover, it is make sense that endodontic treatment or even tooth extraction will be done. Unfortunately, endodontic treatment may also initiate neuropathic tooth pain that is caused by nerve extirpation, thus worsen the pain. Therefore, another cause of dental pain such as referred pain, periodontal disease, or stress which related to psychoneuroimmunology should be considered. In order to prevent from unnecessary drugs or invasive treatment such as root canal treatment and extraction, correct diagnosis and preliminary non-invasive therapies should be done. Purpose: This review elucidates several therapies that could be done by dentists for relieving idiopathic dental pain which includes massage, the “assisted drainage” therapy, modulation of psychoneuroimmunologic status and dietary omega-3. Reviews: Understanding the basic pathogenesis of pain may help in elucidating the effects of non-drug pain therapy such as muscle massage, the “assisted drainage” therapy, omega-3 and psychological stress relieving. These measures are accounted for eliminating referred pain, reducing proinflammatory mediators and relieving unwanted stress reactions consecutively. Psychological stress increases proinflammatory cytokines and thus lowered pain threshold. Conclusion: As an individual treatment, this non-drug therapy is useful in relieving idiopathic dental pain; nevertheless, if they work together the result could be more superior.Latar belakang: Gigi adalah suatu penyebab umum dari nyeri orofasial. Kadang kala penyebab nyeri tidak dapat ditemukan, sehingga disebut sebagai nyeri gigi idiopatik. Karena dokter gigi berupaya untuk mengurangi atau menghilangkan nyeri dengan segala cara

  4. EFFICACY AND SAFETY OF A NEW TOPICAL TESTOSTERONE REPLACEMENT GEL THERAPY FOR THE TREATMENT OF MALE HYPOGONADISM.

    Science.gov (United States)

    Cunningham, Glenn; Belkoff, Laurence; Brock, Gerald; Efros, Mitchell; Gittelman, Marc; Carrara, Dario; Neijber, Anders; Ando, Masakazu; Mitchel, Jules

    2017-05-01

    Testosterone replacement therapy is indicated for male hypogonadism. This study aimed to evaluate the efficacy and safety of testosterone gel 2% (Tgel) over 90 days. This phase 3, open-label, noncomparator study was conducted in adult hypogonadal men (2 consecutive fasting serum testosterone values 86% subjects with symptoms consistent with testosterone deficiency). Subjects applied Tgel 23 mg/day (single pump-actuation using a hands-free cap applicator). The dose was uptitrated to 46 mg/day after 2 weeks if the 4-hour serum total testosterone level was <500 ng/dL. The dose could be further up- or downtitrated to 23, 46, and 69 mg on Days 21, 42, and 63. The primary endpoint included the percentage of subjects with average testosterone concentration (C ave (0-24) ) between 300 and 1,050 ng/dL on Day 90. Safety endpoints were adverse events (AEs), laboratory parameters, and vital signs. Of the 159 who enrolled, 139 men completed the study. Approximately three-quarters (76.1%) of subjects met C ave criteria on Day 90. Most AEs were mild to moderate. There were 5 serious AEs, and 1 (myocardial infarction) was judged as possibly related to Tgel. Confirmed excessive increases in prostate-specific antigen or hematocrit levels were rare. Tgel had a favorable local skin tolerability profile. Overall, 76% of subjects achieved C ave between 300 and 1,050 ng/dL with Tgel. Symptoms of testosterone deficiency improved with few safety concerns. AE = adverse event C ave(0-24) = average testosterone concentration CI = confidence interval C max = maximum concentration IIEF = International Index of Erectile Function MAF = Multidimensional Assessment of Fatigue PK = pharmacokinetic PSA = prostate-specific antigen SAE = serious adverse event SF-12 = Short Form 12 Health Survey Tgel = testosterone gel 2% T max = time to achieve maximum concentration TRT = testosterone replacement therapy.

  5. Retrospective investigation of testosterone undecanoate depot for the long-term treatment of male hypogonadism in clinical practice.

    Science.gov (United States)

    Conaglen, Helen M; Paul, Ryan G; Yarndley, Tania; Kamp, Jozef; Elston, Marianne S; Conaglen, John V

    2014-02-01

    Testosterone undecanoate depot (TUD) administered intramuscularly is an effective form of testosterone replacement therapy (TRT) for male hypogonadism. Because of the ease of administration, TUD therapy may be preferable to subcutaneously implanted extended release T pellet implants (TI). The primary objective was to retrospectively assess the efficacy and safety of long-term (≥ 2 years therapy) TUD therapy in the clinical setting. The secondary objective was to retrospectively compare TUD with TI therapy. Retrospective data were collected from the Waikato Hospital Endocrine Database for 179 hypogonadal men treated with TUD for ≥ 2 years from 1998-2011, with 124 of these men receiving previous TI therapy. The main outcome measure for efficacy was serum trough total testosterone (TT), and for safety an increase in hemoglobin (Hb) and/or hematocrit (Hct), rise in prostate-specific antigen (PSA) and/or prostatic biopsy and alteration in body mass index and lipid profile. Additional outcome measures were changes in the dosing and/or interval regimens for TUD therapy. Overall, 72% of trough TT levels were in the normal range for TUD therapy compared with 53% of trough TT levels during TI therapy. TUD therapy was well tolerated with 162 men (90.5%) completing 2 years of treatment, and only seven men (3.9%) stopping TUD because of adverse effects. A rise in Hb and/or Hct occurred in 25 men (14%), and a significant rise in PSA in 20 men (13%) at some stage during TUD therapy. At 2 years, 91% of men received the standard 1,000 mg TUD dose with 66% at the standard dosing interval of 10-14 weekly. TUD is an efficacious, safe, and well tolerated form of TRT, and individual optimisation of the dose and/or interval is only required in the minority of men. Particularly given the ease of administration, TUD was the preferred TRT for both patients and clinicians. © 2013 International Society for Sexual Medicine.

  6. Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency

    NARCIS (Netherlands)

    W.F. Blum (Werner); C.L. Deal (Cheri Lynn); A.G. Zimmermann (Alan); E.P. Shavrikova (Elena); C.J. Child (Christopher); C.A. Quigley (Charmian); S.L.S. Drop (Stenvert); G. Cutler (Gordon); R.G. Rosenfeld (Ron)

    2014-01-01

    textabstractObjective: We assessed the characteristics of children initially diagnosed with idiopathic isolated GH deficiency (IGHD) who later developed additional (multiple) pituitary hormone deficiencies (MPHD). Design: Data were analyzed for 5805 pediatric patients with idiopathic IGHD, who were

  7. Bone marrow stroma in idiopathic myelofibrosis and other haematological diseases. An immunohistochemical study

    DEFF Research Database (Denmark)

    Lisse, I; Hasselbalch, H; Junker, P

    1991-01-01

    Bone marrow stroma was investigated immunohistochemically in 31 patients with haematological diseases, mainly idiopathic myelofibrosis (n = 8) and related chronic myeloproliferative disorders (n = 14). The bone marrow from patients with idiopathic myelofibrosis and some CML patients showed marked...

  8. Comparing new treatments for idiopathic pulmonary fibrosis--a network meta-analysis.

    LENUS (Irish Health Repository)

    Loveman, Emma

    2015-01-01

    The treatment landscape for idiopathic pulmonary fibrosis, a devastating lung disease, is changing. To investigate the effectiveness of treatments for idiopathic pulmonary fibrosis we undertook a systematic review, network meta-analysis and indirect comparison.

  9. Prucalopride: A Review in Chronic Idiopathic Constipation.

    Science.gov (United States)

    Garnock-Jones, Karly P

    2016-01-01

    Prucalopride (Resolor®), a highly selective serotonin 5-HT4 receptor agonist, is indicated in the European Economic Area for the treatment of adults with chronic idiopathic constipation (CIC) in whom laxatives have failed to provide adequate relief. This article reviews the pharmacological properties of prucalopride and its clinical efficacy and tolerability in patients with CIC. In five well-designed, 12-week trials in patients with CIC, oral prucalopride 2 mg/day was significantly more effective than placebo at improving bowel function, including the number of bowel movements and a range of other constipation symptoms, as well as health-related quality of life and patient satisfaction; however, no significant differences in bowel function measures were observed between prucalopride and placebo in a 24-week trial. Oral PEG-3350 + electrolytes reconstituted powder was found to be noninferior but not superior to prucalopride according to primary endpoint data from a 4-week, controlled-environment trial. Prucalopride was generally well tolerated in clinical trials; the most common adverse events were headache, diarrhoea, nausea and abdominal pain. No cardiovascular safety issues have arisen with prucalopride treatment. Although further long-term and comparative data would be beneficial, prucalopride provides an additional treatment option for patients with CIC.

  10. [Juvenile idiopathic arthritis and oral health].

    Science.gov (United States)

    Kobus, Agnieszka; Kierklo, Anna; Sielicka, Danuta; Szajda, Sławomir Dariusz

    2016-05-04

    Juvenile idiopathic arthritis (JIA) is the most common autoimmune inflammatory disease of connective tissue in children. It is characterized by progressive joint destruction which causes preserved changes in the musculoskeletal system. The literature describes fully clinical symptoms and radiological images in different subtypes of JIA. However, there is still a limited number of studies reporting on the medical condition of the oral cavity of ill children. JIA can affect hard and soft tissues of the oral cavity by: the general condition of the child's health, arthritis of the upper limbs, as the result of the pharmacotherapy, changes in secretion and composition of saliva, inflammation of the temporomandibular joint and facial deformity. The study summarizes the available literature on the condition of the teeth and periodontal and oral hygiene in the course of JIA. The presence of diverse factors that modify the oral cavity, such as facial growth, functioning of salivary glands, or the supervision and care provided by adults, prevents clear identification if JIA leads to severe dental caries and periodontal disease. Despite conflicting results in studies concerning the clinical oral status, individuals with JIA require special attention regarding disease prevention and maintenance of oral health.

  11. Idiopathic non-cirrhotic portal hypertension

    Directory of Open Access Journals (Sweden)

    CHEN Jie

    2013-07-01

    Full Text Available The pathogenesis of idiopathic non-cirrhotic portal hypertension (INCPH remains unknown and the disease is diagnosed by the absence of recognized clinical indicators of cirrhosis and of any other known etiologies of portal hypertension. To promote understanding of this disease, a comprehensive overview of potential etiologies, clinical manifestations, histopathological features, methods of diagnosis and potential differential diagnoses, and outcome of clinical management is presented in this review. In particular, we discuss the findings from INCPH studies and their implications in regards to each of the above-mentioned categories. For example, associations with various comorbidities have suggested a possible immune system component to INCPH development and/or progression. In addition, the common clinical characteristics of patients upon presentation can not only help to recognize disease suspects but may also provide insights into the pathogenesis and prognosis. Finally, prognosis following the various intervention strategies appears to depend mainly on severity of the portal hypertension, as well as its various accompanying complications.

  12. Juvenile idiopathic arthritis-associated uveitis.

    Science.gov (United States)

    Clarke, Sarah L N; Sen, Ethan S; Ramanan, Athimalaipet V

    2016-04-27

    Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood, with JIA-associated uveitis its most common extra-articular manifestation. JIA-associated uveitis is a potentially sight-threatening condition and thus carries a considerable risk of morbidity. The aetiology of the condition is autoimmune in nature with the predominant involvement of CD4(+) T cells. However, the underlying pathogenic mechanisms remain unclear, particularly regarding interplay between genetic and environmental factors. JIA-associated uveitis comes in several forms, but the most common presentation is of the chronic anterior uveitis type. This condition is usually asymptomatic and thus screening for JIA-associated uveitis in at-risk patients is paramount. Early detection and treatment aims to stop inflammation and prevent the development of complications leading to visual loss, which can occur due to both active disease and burden of disease treatment. Visually disabling complications of JIA-associated uveitis include cataracts, glaucoma, band keratopathy and macular oedema. There is a growing body of evidence for the early introduction of systemic immunosuppressive therapies in order to reduce topical and systemic glucocorticoid use. This includes more traditional treatments, such as methotrexate, as well as newer biological therapies. This review highlights the epidemiology of JIA-associated uveitis, the underlying pathogenesis and how affected patients may present. The current guidelines and criteria for screening, diagnosis and monitoring are discussed along with approaches to management.

  13. Uveitis associated with juvenile idiopathic arthritis.

    Science.gov (United States)

    Sen, Ethan S; Dick, Andrew D; Ramanan, Athimalaipet V

    2015-06-01

    Uveitis is a potentially sight-threatening complication of juvenile idiopathic arthritis (JIA). JIA-associated uveitis is recognized to have an autoimmune aetiology characterized by activation of CD4(+) T cells, but the underlying mechanisms might overlap with those of autoinflammatory conditions involving activation of innate immunity. As no animal model recapitulates all the features of JIA-associated uveitis, questions remain regarding its pathogenesis. The most common form of JIA-associated uveitis is chronic anterior uveitis, which is usually asymptomatic initially. Effective screening is, therefore, essential to detect early disease and commence treatment before the development of visually disabling complications, such as cataracts, glaucoma, band keratopathy and cystoid macular oedema. Complications can result from uncontrolled intraocular inflammation as well as from its treatment, particularly prolonged use of high-dose topical corticosteroids. Accumulating evidence supports the early introduction of systemic immunosuppressive drugs, such as methotrexate, as steroid-sparing agents. Prospective randomized controlled trials of TNF inhibitors and other biologic therapies are underway or planned. Future research should aim to identify biomarkers to predict which children are at high risk of developing JIA-associated uveitis or have a poor prognosis. Such biomarkers could help to ensure that patients receive earlier interventions and more-potent therapy, with the ultimate aim of reducing loss of vision and ocular morbidity.

  14. Gastaut type idiopathic childhood occipital epilepsy.

    Science.gov (United States)

    Ferrari-Marinho, Taissa; Macedo, Eugenia Fialho; Costa Neves, Rafael Scarpa; Costa, Lívia Vianez; Tudesco, Ivanda S S; Carvalho, Kelly C; Carrete, Henrique; Caboclo, Luis Otavio; Yacubian, Elza Marcia; Hamad, Ana Paula

    2013-03-01

    Gastaut type idiopathic childhood occipital epilepsy is an uncommon epileptic syndrome characterised by frequent seizures, most commonly presenting as elementary visual hallucinations or blindness. Other occipital (non-visual) symptoms may also occur. Interictal EEG typically shows occipital paroxysms, often with fixation-off sensitivity. Ictal EEG is usually characterised by interruption by paroxysms and sudden appearance of low-voltage, occipital, fast rhythm and/or spikes. Despite well described clinical and EEG patterns, to our knowledge, there are very few reports in the literature with video-EEG recording of either seizure semiology or fixation-off phenomena. We present a video-EEG recording of a 12-year-old girl with Gastaut type epilepsy, illustrating the interictal and ictal aspects of this syndrome. Our aim was to demonstrate the clinical and neurophysiological pattern of a typical seizure of Gastaut type epilepsy, as well as the fixation-off phenomena, in order to further clarify the typical presentation of this syndrome. [Published with video sequences].

  15. Mineralogical microanalysis of idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Monso, E.; Tura, J.M.; Marsal, M.; Morell, F.; Pujadas, J.; Morera, J.

    1990-01-01

    A mineralogical analysis of lung tissue was conducted on 25 samples from patients who had been diagnosed as having idiopathic pulmonary fibrosis (IPF). Scanning electron microscopy (SEM) at low magnification and energy-dispersive x-ray analysis (EDXA) was used. In all samples, the surface silicon/sulfur (Si/S) ratio was calculated. The Si/S ratio for 25 samples of normal lung and 6 samples of pneumoconiotic lung was also determined (upper limit of normal Si/S ratio = 0.3). The difference between the Si/S ratio in the group with IPF and group with normal lung tissue was significantly significant (p less than .007, Wilcoxon test). Six of 12 patients with a previous diagnosis of IPF and a Si/S ratio greater than 0.3 had an exposure history that could imply inhalation of silica/silicates, and the correct diagnosis for these patients is most probably pneumoconiosis. The silica/silicate deposits detected in patients with IPF, and who had a ratio and no past exposure to dusts, could be either a cause or an effect of the disease

  16. Idiopathic intracranial hypertension: A typical presentation

    International Nuclear Information System (INIS)

    Algahtani, Hussein A.; Obeid, Tahir H.; Abuzinadah, Ahmad R.; Baeesa, Saleh S.

    2007-01-01

    Objective was to describe the clinical features of 5 patients with rare atypical presentation of idiopathic intracranial hypertension (IIH), and propose the possible mechanism of this atypical presentation. We carried out a retrospective study of 5 patients, admitted at King Khalid National Guard Hospital, Jeddah, Kingdom of Saudi Arabia with IIH during the period from January 2001 to December 2005. All were females with their age ranges from 24 to 40 years. The clinical presentations, the laboratory and imaging studies were analyzed. The opening pressures of the lumbar puncture tests were documented. All patients were presented with headache. One had typical pain of trigeminal neuralgia and one with neck pain and radiculopathy. Facial diplegia was present in one patient and two patients had bilateral 6th cranial neuropathy. Papilledema was present in all patients except in one patient. Imaging study was normal in all patients, and they had a very high opening pressure during lumbar puncture, except in one patient. All patients achieved full recovery with medical therapy in 6 to 12 weeks with no relapse during the mean follow up of 2 years. Atypical finding in IIH are rare and require a high index of suspicion for early diagnosis. (author)

  17. Idiopathic Granulomatous Mastitis Associated with Erythema Nodosum

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    Tuğba Özlem Kalaycı

    2016-04-01

    Full Text Available Background: Idiopathic granulomatous mastitis (IGM is an uncommon benign chronic inflammatory breast disease, and erythema nodosum (EN is an extremely rare systemic manifestation of IGM. Here, we report a rare case of IGM accompanied by EN. Case Report: A 32-year-old patient was admitted to our clinic with a history of a tender mass in the right breast. On physical examination, the right breast contained a hard, tender mass in the lower half with in-drawing of the nipple. She had florid EN affecting both legs. She was evaluated with mammography, ultrasound, power Doppler ultrasound, non-enhancing magnetic resonance imaging (MRI, dynamic contrast-enhanced MRI, fine needle aspiration biopsy (FNAB and excisional biopsy. Time-intensity curves showed a type II pattern on dynamic contrast-enhanced MRI, which has an intermediate probability for malignancy. The FNAB reported a benign cytology suggestive of a granulomatous inflammation, which was also supported by the histopathological findings. A partial mastectomy was performed following medical treatment. There was no recurrence at 1-year follow-up. Conclusion: IGM should be considered in the differential diagnosis of EN. Although histopathological examination remains the only method for the definite diagnosis of IGM, MRI can be helpful in the diagnosis or differentiation of benign lesions from malignant ones.

  18. Two Sisters with Idiopathic Pulmonary Hemosiderosis

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    Mehmet Gencer

    2007-01-01

    Full Text Available Idiopathic pulmonary hemosiderosis (IPH is a rare cause of diffuse alveolar hemorrhage with unknown etiology. In the present report, the presentations of two sisters are described: one sister had IPH, eosinophilia and a high serum immunoglobulin E (IgE level; and the other had IPH, pneumothorax, eosinophilia and a high serum IgE level. Both cases had quite unusual presentations. The first patient was 23 years of age, and had suffered from dry cough and progressive dyspnea for four years. Her hemoglobin level was 60 g/L, total serum IgE level was 900 U/mL and eosinophilia was 9%. Her chest radiography revealed diffuse infiltration. She died due to respiratory failure. The second patient was 18 years of age. She had also suffered from dry cough and gradually increasing dyspnea for two years. She had partial pneumothorax in the right lung and diffuse infiltration in other pulmonary fields on chest radiography. Her hemoglobin level was 99 g/L, total serum IgE level was 1200 U/mL and eosinophilia was 8%. IPH was diagnosed by open lung biopsy. All these findings suggested that familial or allergic factors, as well as immunological factors, might have contributed to the etiology of IPH.

  19. Outcomes of Noninvasively Treated Idiopathic Toe Walkers.

    Science.gov (United States)

    Radtke, Kerstin; Karch, Nataliia; Goede, Fabian; Vaske, Bernhard; von Lewinski, Gabriela; Noll, Yvonne; Thren, Anneke

    2018-03-01

    Idiopathic toe walking (ITW) causes a common problem in pediatric orthopaedics. In the literature, numerous treatment options have been reported, but consensus about the management of ITW is still missing. The aim of the current study was to evaluate conservative treatment with pyramidal insoles. A total of 193 patients underwent conservative treatment between January 2010 and June 2013. Mean age at the beginning of the treatment was 7.75 ± 0.23 years (range 2.0-17.0 years). For all patients, demographic data, comorbid diseases, passive range of motion (ROM), persistent toe walking, and performed operations were retrospectively evaluated. Following operative treatment was defined failure. Eight (4.15%) patients underwent Achilles tendon lengthening operation after mean therapy time of 2.72 years (range 0.1-7.0 years), 174 cases were treated successfully (90.16%). In 50 cases, toe walking suspended completely after mean therapy time of 2.83 years. In cases of failure, patients were older at diagnosis and at the beginning of the treatment. Mean passive ROM increased over the time. In cases of failure, ROM decreased from the first to the second examination. Conservative treatment of ITW using pyramidal insoles can be effective. Ankle dorsiflexion significantly improved in the patients who were successfully treated. Therapy should start early. A decrease of ROM under therapy should lead to critical revisal of individual therapy. Therapeutic, level IV: Case series.

  20. The knee in diffuse idiopathic skeletal hyperostosis

    International Nuclear Information System (INIS)

    Orzincolo, C.; Scutellari, P.N.; Aiello, N.; Trotta, F.

    1987-01-01

    Diffuse idiopathic skeletal hyperostosis (DISH) is a disorder characterized by bone proliferation of spinal and extraspinal structures. Frequently, extraspinal manifestations may occur before the involvement of the spine. These alterations are so common and characteristc that they should be included in diagnostic criteria for DISH. The patella is one of the most commonly involved sites. The knee of 48 patients affected by DISH, according to Resnick's diagnostic criteria, were subjected to systematic, radiographic and xerographic studies. The most characteristic radiographic patterns are: thickening of the anterior margin of the patella (81.1%); ossifying enthesopathy of supero-anterior margin of patella (68.7%); periosteal new bone formation on the tibial insertion of the cruciateligaments (47.8%); presence of fabella (41%); presence of megafabella (22.9%), which may come near the posterior profile of the femur. Changes are usually symmetrical in DISH: entheseal abnormalities mostly involve the antero-superior margin of the patella, whereas in osteoarthritis, osteophytes are found on the postero-superior margin. In the lateral view enthesophytes at the bone attachment of the cruciate ligaments are oriented inside the joint space; on the contrary, osteophytes are always oriented outside the joint space. Radiographic manifestations of the fabella are similar to those observed in osteoarthritis, and so they cannot be utilized in the differential diagnosis of these diseases

  1. Lymphatics in lymphangioleiomyomatosis and idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Souheil El-Chemaly

    2012-09-01

    Full Text Available The primary function of the lymphatic system is absorbing and transporting macromolecules and immune cells to the general circulation, thereby regulating fluid, nutrient absorption and immune cell trafficking. Lymphangiogenesis plays an important role in tissue inflammation and tumour cell dissemination. Lymphatic involvement is seen in lymphangioleiomyomatosis (LAM and idiopathic pulmonary fibrosis (IPF. LAM, a disease primarily affecting females, involves the lung (cystic destruction, kidney (angiomyolipoma and axial lymphatics (adenopathy and lymphangioleiomyoma. LAM occurs sporadically or in association with tuberous sclerosis complex (TSC. Cystic lung destruction results from proliferation of LAM cells, which are abnormal smooth muscle-like cells with mutations in the TSC1 or TSC2 gene. Lymphatic abnormalities arise from infiltration of LAM cells into the lymphatic wall, leading to damage or obstruction of lymphatic vessels. Benign appearing LAM cells possess metastatic properties and are found in the blood and other body fluids. IPF is a progressive lung disease resulting from fibroblast proliferation and collagen deposition. Lymphangiogenesis is associated with pulmonary destruction and disease severity. A macrophage subset isolated from IPF bronchoalveolar lavage fluid (BALF express lymphatic endothelial cell markers in vitro, in contrast to the same macrophage subset from normal BALF. Herein, we review lymphatic involvement in LAM and IPF.

  2. Mineralogical microanalysis of idiopathic pulmonary fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Monso, E.; Tura, J.M.; Marsal, M.; Morell, F.; Pujadas, J.; Morera, J. (Hospital Germans Trias i Pujol, Badalona (Spain))

    1990-05-01

    A mineralogical analysis of lung tissue was conducted on 25 samples from patients who had been diagnosed as having idiopathic pulmonary fibrosis (IPF). Scanning electron microscopy (SEM) at low magnification and energy-dispersive x-ray analysis (EDXA) was used. In all samples, the surface silicon/sulfur (Si/S) ratio was calculated. The Si/S ratio for 25 samples of normal lung and 6 samples of pneumoconiotic lung was also determined (upper limit of normal Si/S ratio = 0.3). The difference between the Si/S ratio in the group with IPF and group with normal lung tissue was significantly significant (p less than .007, Wilcoxon test). Six of 12 patients with a previous diagnosis of IPF and a Si/S ratio greater than 0.3 had an exposure history that could imply inhalation of silica/silicates, and the correct diagnosis for these patients is most probably pneumoconiosis. The silica/silicate deposits detected in patients with IPF, and who had a ratio and no past exposure to dusts, could be either a cause or an effect of the disease.

  3. Blood Biomarkers in Idiopathic Pulmonary Fibrosis.

    Science.gov (United States)

    Guiot, Julien; Moermans, Catherine; Henket, Monique; Corhay, Jean-Louis; Louis, Renaud

    2017-06-01

    Idiopathic pulmonary fibrosis (IPF) is a progressive and lethal lung disease of unknown origin whose incidence has been increasing over the latest decade partly as a consequence of population ageing. New anti-fibrotic therapy including pirfenidone and nintedanib have now proven efficacy in slowing down the disease. Nevertheless, diagnosis and follow-up of IPF remain challenging. This review examines the recent literature on potentially useful blood molecular and cellular biomarkers in IPF. Most of the proposed biomarkers belong to chemokines (IL-8, CCL18), proteases (MMP-1 and MMP-7), and growth factors (IGBPs) families. Circulating T cells and fibrocytes have also gained recent interest in that respect. Up to now, though several interesting candidates are profiling there has not been a single biomarker, which proved to be specific of the disease and predictive of the evolution (decline of pulmonary function test values, risk of acute exacerbation or mortality). Large scale multicentric studies are eagerly needed to confirm the utility of these biomarkers.

  4. The natural history of adolescent idiopathic scoliosis

    Directory of Open Access Journals (Sweden)

    Wong Hee-Kit

    2010-01-01

    Full Text Available There have been great advances in the conservative and surgical treatment for adolescent idiopathic scoliosis in the last few decades. The challenge for the physician is the decision for the optimal time to institute therapy for the individual child. This makes an understanding of the natural history and risk factors for curve progression of significant importance. Reported rates of curve progression vary from 1.6% for skeletally mature children with a small curve magnitude to 68% for skeletally immature children with larger curve magnitudes. Although the patient′s age at presentation, the Risser sign, the patient′s menarchal status and the magnitude of the curve have been described as risk factors for curve progression, there is evidence that the absolute curve magnitude at presentation may be most predictive of progression in the long term. A curve magnitude of 25º at presentation may be predictive of a greater risk of curve progression. Advances in research may unlock novel predictive factors, which are based on the underlying pathogenesis of this disorder.

  5. PROFILEing idiopathic pulmonary fibrosis: rethinking biomarker discovery

    Directory of Open Access Journals (Sweden)

    Toby M. Maher

    2013-06-01

    Full Text Available Despite major advances in the understanding of the pathogenesis of idiopathic pulmonary fibrosis (IPF, diagnosis and management of the condition continue to pose significant challenges. Clinical management of IPF remains unsatisfactory due to limited availability of effective drug therapies, a lack of accurate indicators of disease progression, and an absence of simple short-term measures of therapeutic response. The identification of more accurate predictors of prognosis and survival in IPF would facilitate counseling of patients and their families, aid communication among clinicians, and would guide optimal timing of referral for transplantation. Improvements in molecular techniques have led to the identification of new disease pathways and a more targeted approach to the development of novel anti-fibrotic agents. However, despite an increased interest in biomarkers of IPF disease progression there are a lack of measures that can be used in early phase clinical trials. Careful longitudinal phenotyping of individuals with IPF together with the application of novel omics-based technology should provide important insights into disease pathogenesis and should address some of the major issues holding back drug development in IPF. The PROFILE (Prospective Observation of Fibrosis in the Lung Clinical Endpoints study is a currently enrolling, prospective cohort study designed to tackle these issues.

  6. A Rare Case of Idiopathic Plastic Bronchitis

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    Mohammed Raoufi

    2017-01-01

    Full Text Available Plastic bronchitis is a rare disorder characterized by formation of large, branching bronchial casts, which are often expectorated. We present an interesting case of a 35-year-old woman who presented for evaluation of a chronic cough productive of voluminous secretions. Clinical and radiological examination confirmed a total left lung atelectasis without any pathological mediastinal node. Flexible bronchoscopy demonstrated tenacious, thick, and sticky whitish secretions blocking the left stem bronchus. This material was extracted, and inspection demonstrated a bronchial cast, whose pathological analysis revealed necrotic epithelial cells, some eosinophils, and Charcot-Leyden crystals. Two days after bronchoscopy, the patient rejected more bronchial casts, and dyspnea improved. Control of chest x-ray revealed complete left lung aeration and the diagnosis of idiopathic plastic bronchitis was obtained. This article shows the interest in clinical practice to evoke the diagnosis of plastic bronchitis in front of a productive chronic cough. Our case illustrates a rare clinical presentation represented by an atelectasis of an entire lung.

  7. Functional neuroimaging abnormalities in idiopathic generalized epilepsy

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    Megan L. McGill

    2014-01-01

    Full Text Available Magnetic resonance imaging (MRI techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA measures from diffusion tensor imaging (DTI and fractional amplitude of low frequency fluctuations (fALFF in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE.

  8. Idiopathic inflammatory myopathies and the lung

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    Jean-Christophe Lega

    2015-06-01

    Full Text Available Idiopathic inflammatory myositis (IIM is a group of rare connective tissue diseases (CTDs characterised by muscular and extramuscular signs, in which lung involvement is a challenging issue. Interstitial lung disease (ILD is the hallmark of pulmonary involvement in IIM, and causes morbidity and mortality, resulting in an estimated excess mortality of 50% in some series. Except for inclusion body myositis, these extrapulmonary disorders are associated with the general and visceral involvement frequently found in other CTDs including fever, Raynaud's phenomenon, arthralgia, nonspecific cutaneous modifications and ILD, for which the prevalence is estimated to be up to 65%. Substantial heterogeneity exists within the spectrum of IIMs, and each condition is associated with various frequencies and subtypes of pulmonary involvement. This heterogeneity is partly related to the presence of various autoantibodies encompassing anti-synthetase, anti-MDA5 and anti-PM/Scl. ILD is present in all subsets of IIM including juvenile myositis, but is more frequent in dermatomyositis and overlap myositis. IIM can also be associated with other presentations of respiratory involvement, namely pulmonary arterial hypertension, pleural disease, infections, drug-induced toxicity, malignancy and respiratory muscle weakness. Here, we critically review the current knowledge about adult and juvenile myositis-associated lung disease with a detailed description of therapeutics for chronic and rapidly progressive ILD.

  9. Idiopathic diaphragmatic paralysis: Bell's palsy of the diaphragm?

    Science.gov (United States)

    Crausman, Robert S; Summerhill, Eleanor M; McCool, F Dennis

    2009-01-01

    Idiopathic diaphragm paralysis is probably more common and responsible for more morbidity than generally appreciated. Bell's palsy, or idiopathic paralysis of the seventh cranial nerve, may be seen as an analogous condition. The roles of zoster sine herpete and herpes simplex have increasingly been recognized in Bell's palsy, and there are some data to suggest that antiviral therapy is a useful adjunct to steroid therapy. Thus, we postulated that antiviral therapy might have a positive impact on the course of acute idiopathic diaphragm paralysis which is likely related to viral infection. Three consecutive patients with subacute onset of symptomatic idiopathic hemidiaphragm paralysis were empirically treated with valacyclovir, 1,000 mg twice daily for 1 week. Prior to therapy, diaphragmatic function was assessed via pulmonary function testing and two-dimensional B-mode ultrasound, with testing repeated 1 month later. Diaphragmatic function pre- and post-treatment was compared to that of a historical control group of 16 untreated patients. All three subjects demonstrated ultrasound recovery of diaphragm function 4-6 weeks following treatment with valacyclovir. This recovery was accompanied by improvements in maximum inspiratory pressure (PI(max)) and vital capacity (VC). In contrast, in the untreated cohort, diaphragm recovery occurred in only 11 subjects, taking an average of 14.9 +/- 6.1 months (mean +/- SD). The results of this small, preliminary study suggest that antiviral therapy with valacyclovir may be helpful in the treatment of idiopathic diaphragm paralysis induced by a viral infection.

  10. Treatment of the idiopathic scoliosis with brace and physiotherapy.

    Science.gov (United States)

    Hundozi-Hysenaj, Hajrije; Dallku, Iliriana Boshnjaku; Murtezani, Ardiana; Rrecaj, Shkurte

    2009-01-01

    Scoliosis is a three-dimensional deformation of the spine with a lateral curvature or deviation greater than 10 degrees and associated with vertebral rotation. Many conservative treatments are available for adolescents with idiopathic scoliosis, but the evidence for their effectiveness is still questioned. The objective of this study was to define the effectiveness of braces and individual physiotherapy for the comprehensive treatment of idiopathic scoliosis in adolescents. A retrospective study of 57 children with idiopathic thoracic dextroscoliosis with the magnitude of the thoracic curve between 20 degrees-35 degrees, treated in Orthopedic and Physiatrist Clinic as well as National Ortho-prosthetic Center within University Clinical Center of Kosova in Prishtina, during the period of 2003-2006. Inclusion of kinesitherapy in the comprehensive management of idiopathic scoliosis varied in the improvement of the muscle strength (satisfied and moderate) in almost 80% of the children while the correction of the curve was small in approximately 42.1% of cases. For children with idiopathic scoliosis, who require braces, an exercise program helps chest mobility, muscle strength, proper breathing flexibility in the spine, correct posture and keeps muscles in tone so that the transition period after brace removal is easier.

  11. Intraspinal anomalies in early-onset idiopathic scoliosis.

    Science.gov (United States)

    Pereira, E A C; Oxenham, M; Lam, K S

    2017-06-01

    In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

  12. A Study of SPINK 1 Mutation and Other Clinical Correlates in Idiopathic Chronic Pancreatitis

    OpenAIRE

    Shiran Shetty; Venkatakrishnan Leelakrishnan; Krishnaveni; S Ramalingam; Seethalakshmi

    2016-01-01

    Chronic pancreatitis is labelled as idiopathic when no identifiable factors are found. The identifications of genetic mutations associated with pancreatitis have provided opportunities for identifying patients at risk for idiopathic pancreatitis. The aim of this study was to study the demographic, clinical profile and assess the prevalence of genetic mutation (SPINK 1) in idiopathic chronic pancreatitis.

  13. Re: Could Testosterone Replacement Therapy in Hypogonadal Men Ameliorate Anemia, a Cardiovascular Risk Factor? An Observational, 54-week Cumulative Registry Study

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    Emre Bakırcıoğlu

    2016-09-01

    Full Text Available Testosterone deficiency syndrome may associate with erectile dysfunction, increased abdominal fat and reduced muscle mass. Low serum testosterone is also related with anemia, metabolic syndrome and cardiovascular disease. In this study, the authors investigated if testosterone undecanoate (TU reduces anemia and the risk of cardiovascular disease in patients with hypogonadism A total of 58 participants with a total testosterone level of less than 2.35 ng/ml received an injection of 1.000 mg TU 6 times; at initial visit, 6, 18, 30, 42 and 54 weeks. They observed that total testosterone and free testosterone levels were restored by TU. Hemoglobin and hematocrit levels significantly increased while anemia and total cholesterol levels significantly reduced. Although there are some limitations of this study e.g. it is not a randomized controlled and a long-term study, TU treatment in hypogonadal men decreased the prevalence of anemia, improved lipid profiles and lowered the risk of cardiovascular disease.

  14. Idiopathic hemifacial spasm responsive to zonisamide: a case report.

    Science.gov (United States)

    Siniscalchi, Antonio; Gallelli, Luca; Palleria, Caterina; De Sarro, Giovambattista

    2009-01-01

    We describe a patient with idiopathic hemifacial spasm (HFS) that was responsive to zonisamide treatment. A 65-year-old woman presented with a 4-year history of left-sided HFS developing gradually, starting from the upper facial muscles. After several analyses, the diagnosis of idiopathic HFS was made, and the clonazepam treatment (0.5 mg every 8 hours) was started, without a complete remission of symptoms. Therefore, zonisamide (150 mg twice a day for a 6-week period) was added, with a complete resolution. The rechallenge with zonisamide after its dechallenge confirmed its effectiveness. During follow-up, the patient remained symptom-free, with no adverse drug reactions. We suggest that zonisamide could represent a useful therapeutic option in the treatment of idiopathic HFS.

  15. Idiopathic granulomatous mastitis: case report and review of the literature.

    Science.gov (United States)

    Imoto, S; Kitaya, T; Kodama, T; Hasebe, T; Mukai, K

    1997-08-01

    We report a case of idiopathic granulomatous mastitis in a 35-year-old Japanese woman, who came to our hospital complaining of a tender mass in her right breast. Because the results of initial aspiration cytology were considered highly suspicious for carcinoma, modified radical mastectomy was performed. However, the final histological diagnosis was granulomatous lobular mastitis with no evidence of malignancy. Idiopathic granulomatous mastitis is a rare inflammatory breast disease of unknown etiology. Since the clinical manifestations are similar to those of mammary carcinoma, this condition has been misdiagnosed as carcinoma and treated as such. A review of the literature revealed that idiopathic granulomatous mastitis has tended to occur in young patients with a history of childbirth or oral contraceptive usage. Clinical or imaging diagnosis has often been difficult. Complete resection or corticosteroid therapy can be recommended as the optimal treatment. Since 38% of patients experience recurrence, long-term follow-up is indicated.

  16. Gut Endotoxin Leading to a Decline IN Gonadal function (GELDING) - a novel theory for the development of late onset hypogonadism in obese men.

    Science.gov (United States)

    Tremellen, Kelton

    2016-01-01

    Obesity is an increasing public health problem, with two-thirds of the adult population in many Western countries now being either overweight or obese. Male obesity is associated with late onset hypogonadism, a condition characterised by decreased serum testosterone, sperm quality plus diminished fertility and quality of life. In this paper we propose a novel theory underlying the development of obesity related hypogonadism- the GELDING theory (Gut Endotoxin Leading to a Decline IN Gonadal function). Several observational studies have previously reported an association between obesity related hypogonadism (low testosterone) and systemic inflammation. However, for the first time we postulate that the trans-mucosal passage of bacterial lipopolysaccharide (LPS) from the gut lumen into the circulation is a key inflammatory trigger underlying male hypogonadism. Obesity and a high fat/high calorie diet are both reported to result in changes to gut bacteria and intestinal wall permeability, leading to the passage of bacterial endotoxin (lipopolysaccharide- LPS) from within the gut lumen into the circulation (metabolic endotoxaemia), where it initiates systemic inflammation. Endotoxin is known to reduce testosterone production by the testis, both by direct inhibition of Leydig cell steroidogenic pathways and indirectly by reducing pituitary LH drive, thereby also leading to a decline in sperm production. In this paper we also highlight the novel evolutionary benefits of the GELDING theory. Testosterone is known to be a powerful immune-suppressive, decreasing a man's ability to fight infection. Therefore we postulate that the male reproductive axis has evolved the capacity to lower testosterone production during times of infection and resulting endotoxin exposure, decreasing the immunosuppressive influence of testosterone, in turn enhancing the ability to fight infection. While this response is adaptive in times of sepsis, it becomes maladaptive in the setting of "non

  17. Vanishing testes syndrome-related osteoporosis and high cardio-metabolic risk in an adult male with long term untreated hypergonadotropic hypogonadism.

    Science.gov (United States)

    Carsote, Mara; Capatina, Cristina; Valea, Ana; Dumitrascu, Anda

    2016-02-01

    The male hypogonadism-related bone mass loss is often under diagnosed. Peak bone mass is severely affected if the hypogonadism occurs during puberty and is left untreated. We present an interesting; almost bizarre case of a male with non-functional testes early during childhood and undiagnosed and untreated hypogonadism until his fifth decade of life. Forty six year male is referred for goitre, complaining of back pain. Phenotype suggested intersexuality: gynoid proportions, micropenis, no palpable testes into the scrotum, no facial or truncal hair. His medical history had been unremarkable until the previous year when primary hypothyroidism was diagnosed and levothyroxine replacement was initiated. Later, he was diagnosed with ischemic heart disease, with inaugural unstable angina. On admission, the testosterone was 0.2 ng/mL (normal: 1.7-7.8 ng/mL), FSH markedly increased (56 mUI/mL), with normal adrenal axis, and TSH (under thyroxine replacement). High bone turnover markers, and blood cholesterol, and impaired glucose tolerance were diagnosed. The testes were not present in the scrotum. Abdominal computed tomography suggested bilateral masses of 1.6 cm diameter within the abdominal fat that were removed but no gonadal tissue was confirmed histopathologically. Vanishing testes syndrome was confirmed. The central DXA showed lumbar bone mineral density of 0.905 g/cm2, Z-score of -2.9SD. The spine profile X-Ray revealed multiple thoracic vertebral fractures. Alendronate therapy together with vitamin D and calcium supplements and trans-dermal testosterone were started. Four decades of hypogonadism associate increased cardiac risk, as well as decreased bone mass and high fracture risk.

  18. Effects of testosterone replacement therapy on bone metabolism in male post-surgical hypogonadotropic hypogonadism: focus on the role of androgen receptor CAG polymorphism.

    Science.gov (United States)

    Tirabassi, G; delli Muti, N; Gioia, A; Biagioli, A; Lenzi, A; Balercia, G

    2014-04-01

    The relationship between androgen receptor (AR) CAG polymorphism and bone metabolism is highly controversial. We, therefore, aimed to evaluate the independent role of AR CAG repeat polymorphism on bone metabolism improvement induced by testosterone replacement therapy (TRT) in male post-surgical hypogonadotropic hypogonadism, a condition frequently associated with hypopituitarism and in which the effects of TRT have to be distinguished from those resulting from concomitant administration of pituitary function replacing hormones. 12 men affected by post-surgical hypogonadotropic hypogonadism [mean duration of hypogonadism 8.3 ± 2.05 (SD) months] were retrospectively assessed before and after TRT (from 74 to 84 weeks after the beginning of therapy). The following measures were studied: parameters of bone metabolism [serum markers and bone mineral density (BMD)], pituitary dependent hormones and genetic analysis (AR CAG repeat number). Total testosterone, estradiol, free T4 (FT4) and insulin-like growth factor-1 (IGF-1) increased between the two phases, while follicle stimulating hormone (FSH) decreased. While serum markers did not vary significantly between the two phases, BMD improved slightly but significantly in all the studied sites. The number of CAG triplets correlated negatively and significantly with all the variations (Δ-) of BMDs. Conversely, Δ-testosterone correlated positively and significantly with all studied Δ-BMDs, while Δ-FSH, Δ-estradiol, Δ-FT4, and Δ-IGF-1 did not correlate significantly with any of the Δ-BMDs. Multiple linear regression analysis, after correction for Δ-testosterone, showed that CAG repeat length was negatively and significantly associated with ∆-BMD of all measured sites. Our data suggest that, in post-surgical male hypogonadotropic hypogonadism, shorter AR CAG tract is independently associated with greater TRT-induced improvement of BMD.

  19. Optimal management of idiopathic macular holes.

    Science.gov (United States)

    Madi, Haifa A; Masri, Ibrahim; Steel, David H

    2016-01-01

    This review evaluates the current surgical options for the management of idiopathic macular holes (IMHs), including vitrectomy, ocriplasmin (OCP), and expansile gas use, and discusses key background information to inform the choice of treatment. An evidence-based approach to selecting the best treatment option for the individual patient based on IMH characteristics and patient-specific factors is suggested. For holes without vitreomacular attachment (VMA), vitrectomy is the only option with three key surgical variables: whether to peel the inner limiting membrane (ILM), the type of tamponade agent to be used, and the requirement for postoperative face-down posturing. There is a general consensus that ILM peeling improves primary anatomical hole closure rate; however, in small holes (holes, but large (>400 µm) and chronic holes (>1-year history) are usually treated with long-acting gas and posturing. Several studies on posturing and gas choice were carried out in combination with ILM peeling, which may also influence the gas and posturing requirement. Combined phacovitrectomy appears to offer more rapid visual recovery without affecting the long-term outcomes of vitrectomy for IMH. OCP is licensed for use in patients with small- or medium-sized holes and VMA. A greater success rate in using OCP has been reported in smaller holes, but further predictive factors for its success are needed to refine its use. It is important to counsel patients realistically regarding the rates of success with intravitreal OCP and its potential complications. Expansile gas can be considered as a further option in small holes with VMA; however, larger studies are required to provide guidance on its use.

  20. Cervical spinal canal narrowing in idiopathic syringomyelia

    International Nuclear Information System (INIS)

    Struck, Aaron F.; Carr, Carrie M.; Shah, Vinil; Hesselink, John R.; Haughton, Victor M.

    2016-01-01

    The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

  1. Recent advances in understanding idiopathic pulmonary fibrosis

    Science.gov (United States)

    Daccord, Cécile; Maher, Toby M.

    2016-01-01

    Despite major research efforts leading to the recent approval of pirfenidone and nintedanib, the dismal prognosis of idiopathic pulmonary fibrosis (IPF) remains unchanged. The elaboration of international diagnostic criteria and disease stratification models based on clinical, physiological, radiological, and histopathological features has improved the accuracy of IPF diagnosis and prediction of mortality risk. Nevertheless, given the marked heterogeneity in clinical phenotype and the considerable overlap of IPF with other fibrotic interstitial lung diseases (ILDs), about 10% of cases of pulmonary fibrosis remain unclassifiable. Moreover, currently available tools fail to detect early IPF, predict the highly variable course of the disease, and assess response to antifibrotic drugs. Recent advances in understanding the multiple interrelated pathogenic pathways underlying IPF have identified various molecular phenotypes resulting from complex interactions among genetic, epigenetic, transcriptional, post-transcriptional, metabolic, and environmental factors. These different disease endotypes appear to confer variable susceptibility to the condition, differing risks of rapid progression, and, possibly, altered responses to therapy. The development and validation of diagnostic and prognostic biomarkers are necessary to enable a more precise and earlier diagnosis of IPF and to improve prediction of future disease behaviour. The availability of approved antifibrotic therapies together with potential new drugs currently under evaluation also highlights the need for biomarkers able to predict and assess treatment responsiveness, thereby allowing individualised treatment based on risk of progression and drug response. This approach of disease stratification and personalised medicine is already used in the routine management of many cancers and provides a potential road map for guiding clinical care in IPF. PMID:27303645

  2. Cervical spinal canal narrowing in idiopathic syringomyelia

    Energy Technology Data Exchange (ETDEWEB)

    Struck, Aaron F. [Massachusetts General Hospital, Department of Neurology, Boston, MA (United States); Carr, Carrie M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Shah, Vinil [University of California San Francisco, Department of Radiology, San Francisco, CA (United States); Hesselink, John R. [University of California San Diego, Department of Radiology, San Diego, CA (United States); Haughton, Victor M. [University of Wisconsin, Department of Radiology, Madison, WI (United States)

    2016-08-15

    The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

  3. Update on diagnosis and treatment of idiopathic pulmonary fibrosis

    Science.gov (United States)

    Baddini-Martinez, José; Baldi, Bruno Guedes; da Costa, Cláudia Henrique; Jezler, Sérgio; Lima, Mariana Silva; Rufino, Rogério

    2015-01-01

    Idiopathic pulmonary fibrosis is a type of chronic fibrosing interstitial pneumonia, of unknown etiology, which is associated with a progressive decrease in pulmonary function and with high mortality rates. Interest in and knowledge of this disorder have grown substantially in recent years. In this review article, we broadly discuss distinct aspects related to the diagnosis and treatment of idiopathic pulmonary fibrosis. We list the current diagnostic criteria and describe the therapeutic approaches currently available, symptomatic treatments, the action of new drugs that are effective in slowing the decline in pulmonary function, and indications for lung transplantation. PMID:26578138

  4. Update on diagnosis and treatment of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    José Baddini-Martinez

    2015-10-01

    Full Text Available Idiopathic pulmonary fibrosis is a type of chronic fibrosing interstitial pneumonia, of unknown etiology, which is associated with a progressive decrease in pulmonary function and with high mortality rates. Interest in and knowledge of this disorder have grown substantially in recent years. In this review article, we broadly discuss distinct aspects related to the diagnosis and treatment of idiopathic pulmonary fibrosis. We list the current diagnostic criteria and describe the therapeutic approaches currently available, symptomatic treatments, the action of new drugs that are effective in slowing the decline in pulmonary function, and indications for lung transplantation.

  5. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings. (orig.)

  6. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings.

  7. Early weight loss predicts the reduction of obesity in men with erectile dysfunction and hypogonadism undergoing long-term testosterone replacement therapy.

    Science.gov (United States)

    Salman, Mahmoud; Yassin, Dany-Jan; Shoukfeh, Huda; Nettleship, Joanne Elisabeth; Yassin, Aksam

    2017-03-01

    We and others have previously shown that testosterone replacement therapy (TRT) results in sustained weight loss in the majority of middle-aged hypogonadal men. Previously, however, a small proportion failed to lose at least 5% of their baseline weight. The reason for this is not yet understood. In the present study, we sought to identify early indicators that may predict successful long-term weight loss, defined as a reduction of at least 5% of total body weight relative to baseline weight (T0), in men with hypogonadism undergoing TRT. Eight parameters measured were assessed as potential predictors of sustained weight loss: loss of 3% or more of baseline weight after 1 year of TU treatment, severe hypogonadism, BMI, waist circumference, International Prostate Symptom Score (IPSS), glycated hemoglobin (HbA 1C ), age and use of vardenafil. Among the eight measured parameters, three factors were significantly associated with sustained weight loss over the entire period of TU treatment: (1) a loss of 3% of the baseline body weight after 1 year of TRT; (2) baseline BMI over 30; and (3) a waist circumference >102 cm. Age was not a predictor of weight loss.

  8. Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

    Science.gov (United States)

    Langdahl, Jakob H; Frederiksen, Anja L; Nguyen, Nina; Brusgaard, Klaus; Juhl, Claus B

    2017-02-01

    Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty. The youngest case, a 55-year old male, was referred to our department in 2006 for evaluation of secondary causes of osteoporosis, which he developed despite adequate testosterone replacement therapy. The unusual medical history with childhood ataxia and hypogonadotropic hypogonadism lead to further examinations and eventually the diagnosis of BNS. The older sister of the proband also displayed the triad of ataxia, HH and chorioretinal dystrophy accompanied by cerebellar atrophy and in 2014, we found the mutations in PNPLA6. BNS is a rare cause of HH and secondary osteoporosis, but should be considered in patients presenting with one or more of the key features. Genetic screening is becoming increasingly available and inexpensive and accordingly this may be considered earlier and by broader indication in unusual phenotypic presentations. The increasing knowledge of causes for inherited diseases should extend the use of genetic screening, as the correct diagnosis will benefit the patients. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  9. Time for a change: is idiopathic pulmonary fibrosis still idiopathic and only fibrotic?

    Science.gov (United States)

    Wolters, Paul J; Blackwell, Timothy S; Eickelberg, Oliver; Loyd, James E; Kaminski, Naftali; Jenkins, Gisli; Maher, Toby M; Molina-Molina, Maria; Noble, Paul W; Raghu, Ganesh; Richeldi, Luca; Schwarz, Marvin I; Selman, Moises; Wuyts, Wim A; Schwartz, David A

    2018-01-01

    Idiopathic pulmonary fibrosis (IPF) is a progressive, irreversible, and typically fatal lung disease characterised by subpleural fibrosis, subepithelial fibroblast foci, and microscopic honeycombing. Although understanding of the pathogenic mechanisms continues to evolve, evidence indicates that distal airway and alveolar epithelial cells are central drivers of the disease. In this Viewpoint, we review the history of naming and classifications used to define the disease now referred to as IPF, in the context of understanding the clinical presentation, causes, and pathogenesis of the disease. We aim to generate discussion on whether, given the substantial progress made in understanding the clinical, genetic, cellular, and molecular mechanisms involved in the development of IPF, a change of name should be considered. To initiate this discussion, we offer new suggestions to update the name of this disease and new approaches to classify all forms of pulmonary fibrosis. PMID:29413083

  10. Idiopath=ic Granulomatous Lobular Mastitis Masquerading as a Breast Tumor: A Case Report.

    Science.gov (United States)

    Raman R, Thulasi; Manimaran, D

    2016-05-01

    Idiopathic granulomatous lobular mastitis (IGLM) is an inflammatory disease of the breast with an obscure etiology. It occurs mainly in women of reproductive age, and the lesion mimics carcinoma of the breast both clinically and radiologically. We present the case of a 29-year-old female who visited our hospital in Kancheepuram, Tamil Nadu, with a 4 × 3 cm lump in the upper outer quadrant of her left breast. The clinical and radiological findings were indicative of a malignant lesion; however, fine-needle aspiration cytology (FNAC) revealed features of granulomatous mastitis, and the subsequent histology of the excised lump confirmed the diagnosis of IGLM. IGLM should be considered as one of the differential diagnoses when granulomas are encountered in breast FNAC and biopsy. A definitive diagnosis of IGLM can be made by identifying its characteristic histomorphology and ruling out other causes for granulomatous inflammation. An exact diagnosis is essential since the treatment for different granulomatous conditions of the breast varies.

  11. Trunk imbalance in adolescent idiopathic scoliosis.

    Science.gov (United States)

    Fortin, Carole; Grunstein, Erin; Labelle, Hubert; Parent, Stefan; Ehrmann Feldman, Debbie

    2016-06-01

    Trunk imbalance (ie, frontal trunk shift measured with a plumb line from C7 to S1) is part of the clinical evaluation in adolescent idiopathic scoliosis (AIS), but its prevalence and relationship with scoliosis, back pain, and health-related factors are not well documented. The principal objectives are to document trunk imbalance prevalence and to explore the association between trunk imbalance and the following factors: Cobb angle, type of scoliosis, back pain, function, mental health, and self-image. The secondary objective is to determine back pain prevalence and the relationship between back pain and each of the following: Cobb angle, function, mental health, and self-image. This is a cross-sectional study in a scoliosis clinic of a tertiary university hospital center. The sample includes youth with AIS (N=55). The outcome measures were trunk imbalance prevalence and magnitude, and back pain prevalence and intensity using the Numeric Pain Rating Scale (NPRS) and the Scoliosis Research Society-22 (SRS-22) pain score, and the function, self-image, and mental health domains of the SRS-22. Trunk imbalance and back pain were assessed in 55 patients with AIS (Cobb angle: 10-60°). Patients completed the SRS-22 questionnaire and the NPRS. Correlations were done between trunk imbalance and scoliosis (Cobb angle, type of scoliosis), back pain (NPRS and SRS-22 pain score), and health-related factors using Pearson correlation coefficients (r) and logistic regression models. Trunk imbalance prevalence is 85% and back pain prevalence is 73%. We found fair to moderate significant positive correlation between trunk imbalance and Cobb angle (r=0.32-0.66, pself-image, or type of scoliosis. Lower self-reported pain significantly correlated with lower Cobb angles (r=0.29, p=.03), higher function (r=0.55, p=.000), higher self-image (r=0.44, p=.001), and better mental health (r=0.48, p=.000). There was a trend for trunk imbalance to be related with lower pain in logistic regression

  12. Management of idiopathic nephrotic syndrome in childhood

    Directory of Open Access Journals (Sweden)

    Peco-Antić Amira

    2004-01-01

    Full Text Available The management of idiopathic nephrotic syndrome (INS in children includes immunosuppressive and symptomatic treatment. The response to corticosteroid therapy is the best prognostic marker of the disease. The majority of children with INS (about 85% are steroid-sensitive as they normalize proteinuria within 4 weeks of daily, oral prednisone administration. The most of steroid-sensitive patients (94% has minimal change of nephrotic syndrome, while the majority (80.5%-94.4% of those who are steroid-resistant has focal segmental glomerulosderosis or mesangioproliferative glomerulonephritis. Initial therapy of INS consists of 60 mg/m2/day prednisone daily for 4 weeks followed by 40 mg/m2 on alternate days for 4 weeks, thereafter decreasing alternate day therapy every month by 25% over the next 4 months. Thus, the overall duration of the initial cortico-steroids course is 6 months that may be significantly protective against the future development of frequent relapses. Approximately 30% of patients experience only one attack and are cured after the first course of therapy; 10-20% have only 3 or 4 steroid-responsive episodes before permanent cure; the remaining 40-50% of patients are frequent relapsers, or steroid-dependent. Standard relapse therapy consists of 60 mg/m2/ day prednisone until urine is protein free for at least 3 days, followed by 40 mg/m2 on alternate days for 4 weeks. The treatment of frequent-relapses and steroid-dependent INS includes several different regimens: maintenance (6 months alternate steroid therapy just above steroid threshold (0.1-0.5 mg/kg/ 48h, levamisole, alkylating agents (cyclophosphamide or chlorambucil or cyclosporine. The worse prognosis is expected in steroid-resistant patients who are the most difficult to treat. Renal biopsy should be performed in them. At present, there is no consensus on therapeutic regimen for steroid-resistant patients. The following immunosuppressive drugs have been used with varying

  13. Circadian rhythm in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Eleftheriou, Andreas; Ulander, Martin; Lundin, Fredrik

    2018-01-01

    The pathogenesis of idiopathic normal pressure hydrocephalus (iNPH) takes place in structures close to the cerebral ventricular system. Suprachiasmatic nucleus (SCN), situated close to the third ventricle, is involved in circadian rhythm. Diurnal disturbances are well-known in demented patients. The cognitive decline in iNPH is potentially reversible after a shunt operation. Diurnal rhythm has never been studied in iNPH. We hypothesize that there is a disturbance of circadian rhythm in iNPH-patients and the aim was to study any changes of the diurnal rhythm (mesor and circadian period) as well as any changes of the diurnal amplitude and acrophase of the activity in iNPH-patients before and after a shunt operation. Twenty consecutive iNPH-patients fulfilling the criteria of the American iNPH-guidelines, 9 males and 11 females, mean age 73 (49-81) years were included. The patients underwent a pre-operative clinical work-up including 10m walk time (w10mt) steps (w10ms), TUG-time (TUGt) and steps (TUGs) and for cognitive function an MMSE score was measured. In order to receive circadian rhythm data actigraphic recordings were performed using the SenseWear 2 (BodyMedia Inc Pittsburgh, PA, USA) actigraph. Cosinor analyses of accelerometry data were performed in "R" using non-linear regression with Levenburg- Marquardt estimation. Pre- and post-operative data regarding mesor, amplitude and circadian period were compared using Wilcoxon-Mann-Whitney test for paired data. Twenty patients were evaluated before and three month post-operatively. Motor function (w10mt, w10ms, TUGt, TUGs) was significantly improved while MMSE was not significantly changed. Actigraphic measurements (mesor, amplitude and circadian period) showed no significant changes after shunt operation. This is the first systematic study of circadian rhythm in iNPH-patients. We found no significant changes in circadian rhythm after shunt surgery. The conceptual idea of diurnal rhythm changes in hydrocephalus is

  14. Rituximab in treatment of idiopathic glomerulopathy

    Directory of Open Access Journals (Sweden)

    Kamel El-Reshaid

    2012-01-01

    Full Text Available The aim of our study was to assess the role of rituximab (Mabthera in the treatment of patients with corticosteroid-resistant and calcineurin-inhibitors ± cellcept refractory idiopathic nephrotic syndrome (INS. A total of 83 patients who had required the previous treatment for a minimum of two years were included in the study. Our protocol included the use of rituximab in four-weekly slow infusions. Five patients were excluded as they could not tolerate rituximab infusion for allergic reaction. As expected, none of the patients had a decline in the total circulating lymphocyte counts yet all had achieved decline of their initially normal CD20 to < 0.5% one month after infusion. The decline persisted for eight to ten months later. In the minimal change disease (MCD group, 31 of the 32 patients had complete remission (CR and were off any immunosuppressive therapy and one of the previous non-responders (NR did not respond. Excluding two patients who had required retreatment, the others remained in CR (17 up to 28 months and six up to 36 months. Treatment with rituximab resulted in amelioration of NS in 17 of the 18 patients with focal segmental glomerulosclerosis (FSGS, while only one patient remained NR. Although renal function remained stable, proteinuria reappeared by eight to 12 months. Retreatment with rituximab resulted in a similar response with stable kidney function. In the 28 patients with membranous glomerulopathy (MG, 24 had achieved CR. Two patients failed to respond and two had partial remission. By 12 months, all patients relapsed. The response was within one month following treatment in patient with MCD, but was gradual within three months in FSGS and MG. Relapsers in all groups responded in a similar pattern to repeat dosing with the drug subsequently. Our prospective study represents an adequate number of patients with biopsy-proven subgroups of INS in both children and adults with long-term follow-up of treatment with rituximab

  15. Chronic idiopathic constipation: a psychological enquiry.

    Science.gov (United States)

    Dykes, S; Smilgin-Humphreys, S; Bass, C

    2001-01-01

    Intractable idiopathic constipation in women is often associated with psychosocial problems. To determine the past and current psychological factors associated with slow and normal transit constipation. Twenty-eight consecutive patients referred for biofeedback treatment were interviewed before the procedure. All were women. Transit studies revealed that 12 had slow transit constipation (STC) and 16 had normal transit constipation (NTC). Patients were assessed for evidence of previous and current psychiatric diagnoses using a standardized diagnostic interview schedule. A full family and social history was noted. Self-rating scales were used to measure psychological distress, abnormal attitudes to eating and current psychosocial functioning. The mean age of the 28 patients was 38.2 years (SD = 10.8) with a mean duration of symptoms of 17.5 years (SD = 16.9). Seventeen (61%) had a current psychiatric disorder and 18 (64%) a previous episode of psychiatric illness. The mean age of the 16 NTC patients was 38.4 years (SD = 10.1) with a mean duration of symptoms of 12.4 years (SD = 15.9). By contrast, the 12 STC patients had a much longer mean duration of constipation (24.3 years; SD = 16.4), a mean age of 37.9 years (SD = 12.1), with half having an onset in childhood. The STC patients reported more psychosocial distress on the rating scales than those with NTC, and only one did not experience some form of adverse life event or gynaecological procedure in the 6 months before the onset of constipation. Eleven (39%) of the 28 women had had a hysterectomy at a mean age of 36 years, but only four (14%) reported a history of sexual abuse. Of the nine (32%) patients who reported markedly distorted attitudes to food, six had NTC and three had STC. Of consecutive patients undergoing psychological assessment for intractable constipation, three fifths had evidence of current, and two thirds a previous, affective disorder. One third reported distorted attitudes to food. Although

  16. Optimal management of idiopathic macular holes

    Directory of Open Access Journals (Sweden)

    Madi HA

    2016-01-01

    Full Text Available Haifa A Madi,1,* Ibrahim Masri,1,* David H Steel1,2 1Sunderland Eye Infirmary, Sunderland, 2Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle, UK *These authors contributed equally to this work Abstract: This review evaluates the current surgical options for the management of idiopathic macular holes (IMHs, including vitrectomy, ocriplasmin (OCP, and expansile gas use, and discusses key background information to inform the choice of treatment. An evidence-based approach to selecting the best treatment option for the individual patient based on IMH characteristics and patient-specific factors is suggested. For holes without vitreomacular attachment (VMA, vitrectomy is the only option with three key surgical variables: whether to peel the inner limiting membrane (ILM, the type of tamponade agent to be used, and the requirement for postoperative face-down posturing. There is a general consensus that ILM peeling improves primary anatomical hole closure rate; however, in small holes (<250 µm, it is uncertain whether peeling is always required. It has been increasingly recognized that long-acting gas and face-down positioning are not always necessary in patients with small- and medium-sized holes, but large (>400 µm and chronic holes (>1-year history are usually treated with long-acting gas and posturing. Several studies on posturing and gas choice were carried out in combination with ILM peeling, which may also influence the gas and posturing requirement. Combined phacovitrectomy appears to offer more rapid visual recovery without affecting the long-term outcomes of vitrectomy for IMH. OCP is licensed for use in patients with small- or medium-sized holes and VMA. A greater success rate in using OCP has been reported in smaller holes, but further predictive factors for its success are needed to refine its use. It is important to counsel patients realistically regarding the rates of success with

  17. Hyperoxaluria in idiopathic calcium nephrolithiasis--what are the limits?

    DEFF Research Database (Denmark)

    Osther, P J

    1999-01-01

    OBJECTIVE: The object of this study was to investigate the role for measurement of 24-h renal oxalate excretion in the evaluation of idiopathic calcium stone formers. MATERIALS AND METHODS: Renal excretion rates of oxalate and creatinine were measured in 24-h urines in 46 consecutive male recurrent...

  18. Treatment of Refractory Idiopathic Supraorbital Neuralgia Using Percutaneous Pulsed Radiofrequency.

    Science.gov (United States)

    Luo, Fang; Lu, Jingjing; Ji, Nan

    2018-02-26

    No ideal therapeutic method currently exists for refractory idiopathic supraorbital neuralgia patients who do not respond to conservative therapy, including medications and nerve blocks. Pulsed radiofrequency is a neuromodulation technique that does not produce sequelae of nerve damage after treatment. However, the efficacy of percutaneous pulsed radiofrequency for the treatment of refractory idiopathic supraorbital neuralgia is still not clear. The purpose of our study was to evaluate the efficacy and safety of pulsed radiofrequency treatment of the supraorbital nerve for refractory supraorbital neuralgia patients. We prospectively investigated the long-term effects of ultrasound-guided percutaneous pulsed radiofrequency in the treatment of 22 refractory idiopathic supraorbital neuralgia patients. A reduction in the verbal pain numeric rating scale score of more than 50% was used as the standard of effectiveness. The effectiveness rates at different time points within 2 years were calculated. After a single pulsed radiofrequency treatment, the effectiveness rate at 1 and 3 months was 77%, and the rates at 6 months, 1 year, and 2 years were 73%, 64%, and 50%, respectively. Except for a small portion of patients (23%) who experienced mild upper eyelid ecchymosis that gradually disappeared after approximately 2 weeks, no obvious complications were observed. In conclusion, the results of our study demonstrate that for patients with refractory idiopathic supraorbital neuralgia, percutaneous pulsed radiofrequency may be an effective and safe treatment choice. © 2018 World Institute of Pain.

  19. Idiopathic Intracranial Hypertension – Pathophysiology Based on Case Series

    Directory of Open Access Journals (Sweden)

    Ljubisavljević Srdjan

    2016-09-01

    Full Text Available According to the definition, idiopathic intracranial hypertension (IIH is a pathological state characterized by an increase in intracranial pressure; however, there are no obvious intracranial pathological processes. The pathophysiology of this disorder is not clear, although there are many reports related to it.

  20. Idiopathic non-cirrhotic portal hypertension: a review

    NARCIS (Netherlands)

    Schouten, Jeoffrey N. L.; Verheij, Joanne; Seijo, Susana

    2015-01-01

    Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare disease characterized of intrahepatic portal hypertension in the absence of cirrhosis or other causes of liver disease and splanchnic venous thrombosis. The etiology of INCPH can be classified in five categories: 1) immunological