Sample records for gynecomastia

  1. Gynecomastia (For Teens)

    ... Mind Sexual Health Food & Fitness Diseases & Conditions Infections Q&A School & Jobs Drugs & Alcohol Staying Safe Recipes ... of these changes can be the development of breast tissue. It's called gynecomastia (pronounced: guy-nuh-ko- ...

  2. Drug-induced gynecomastia.

    Eckman, Ari; Dobs, Adrian


    Gynecomastia is caused by drugs in 10 - 25% of all cases. The pathophysiologic mechanism for some drugs includes exogenous estrogens exposure, medications that cause hypogonadism, anti-androgenic effects and hyperprolactinemia. This manuscript reviews common examples of drug-induced gynecomastia, discussing the mechanisms and possible treatments. Discontinuing the medication is always the best choice; however, if this is not possible, then testosterone replacement therapy may be needed for hypogonadism. When a man is euogonadal, a trial of the anti-estrogen, tamoxifen or an aromatase inhibitor may be an option.

  3. Gynecomastia caused by ethionamide

    Parveen K Sharma


    Full Text Available A 43 year old male patient, known case of multidrug resistant tuberculosis, was prescribed antitubercular drugs: kanamycin, levofloxacin, ethionamide, terizidone, Para-Aminosalicylate Sodium (PAS, pyrazinamide and pyridoxine. After 4 months of treatment, the patient developed a lump in the right breast which was approximately around 3 × 3 cm in size, tender on palpation, and not fixed to the underlying tissues. Ultrasonography (USG revealed a hypoechoic mass of size 2.5 × 0.92 × 2.6 cm in the right breast region behind the nipple without any infiltration to the deeper structures. Gynecomastia due to ethionamide was suspected and the patient was advised anti-inflammatory drugs for 5 days without any change in drug therapy. The pain subsided; however, the nodule remained. Treatment was continued without any change till the patient stopped using the drugs on his own and without doctor′s consent. Within a week of stopping of treatment the nodule also disappeared.

  4. Feminizing Adrenocortical Carcinoma Without Gynecomastia

    Farida Chentli1*,


    Full Text Available Malignant feminizing adrenocortical tumors are exceedingly rare. Their main presentation is gynecomastia. In these estrogen secreting tumors (with or without other adrenocortical hormones lack of gynecomastia is exceptional as in our case. A 44-year-old man presented with abdominal pain. Radiological assessment revealed a tumor measuring 120 × 95 mm in the retroperitoneal area with numerous metastases. Pathological examination pleaded for an adrenal origin with a Weiss’s score of 5. Six months later, the tumor relapsed, and he had a second surgery and was sent for hormone assessment. Clinical examination showed a skinny man with severe fatigue. He had no Cushingoid features. Gynecomastia and galactorrhea were absent. Penile length, testicular volume, and body hair growth were normal. Several cutaneous nodules were present. Biological assessment showed high morning plasma cortisol, which failed to be suppressed by treatment with 2 mg dexamethasone. Plasma estradiol and 17OH progesterone levels were high, but his testosterone levels were low. Radiological exploration showed numerous metastases: pleural, pulmonary, retroperitoneal, and abdominal. He was treated with classical chemotherapy, but he died four months after diagnosis.

  5. Modern views on the epidemiology, etiology and pathogenesis of gynecomastia

    Yu. N. Yashina


    Full Text Available The review deals with one of the pressing andrological issues – gynecomastia, its etiology and pathogenesis. Based on the current epidemiological and experimental data, most common etiological factors of gynecomastia were investigated. A multiple-valued role of various causes of gynecomastia in several age-groups was revealed. Literature data show that gynecomastia may be a manifestation of various diseases: endocrine, genetic, systematic. As well as that, gynecomastia may occur in patients with oncological diseases. However, gynecomastia can be an iatrogenic complication. Currently, we continue to make insights to the problem of gynecomastia in order to be able to classify its etiological factors and determine its basic pathogenesis pathways.

  6. Gynecomastia: An ADR due to drug interaction

    Aiman Umme


    Full Text Available Gynecomastia results from conditions that cause an imbalance of estrogenic and androgenic effects on the breast, resulting in an increased or unopposed estrogen action on breast tissue. Approximately 4 to 10% cases of gynecomastia are due to drugs. Both Digoxin and Furosemide are also reported to cause the same condition. Although, chances of gynecomastia could be more if these two drugs are coadministered, but no case report of this adverse effect is ever reported when both are prescribed concurrently. Here we report a case of gynecomastia suspected to have resulted from the coadministation of both the drugs. Probability of the adverse effect due to drug interaction was evaluated by DIPS, which suggests that the adverse drug reaction (ADR due to DI is "Possible."

  7. Prepubertal unilateral gynecomastia: a report of two cases

    Hoevenaren, I.A.; Schott, D.A.; Otten, B.J.; Kroese-Deutman, H.C.


    BACKGROUND: Gynecomastia is defined as the presence of excessive breast tissue in males, which can appear unilateral or bilateral. Bilateral gynecomastia is frequently found in the neonatal period, early in puberty, and with increasing age. Prepubertal unilateral gynecomastia in the absence of endoc

  8. Gynecomastia with risperidone-fluoxetine combination.

    Benazzi, F


    Gynecomastia (breast enlargement) is a side effect of neuroleptic antipsychotic drugs, related to prolactin elevation caused by dopamine D2 receptor blockade (Richelson, 1996). The atypical antipsychotic risperidone is less likely to cause gynecomastia at low doses (Casey, 1996). It can cause a dose-dependent increase in serum prolactin concentration (Peuskens, 1995), by blocking dopamine D2 receptors (Richelson, 1996). I would like to describe a patient who did not have gynecomastia with risperidone at a dose of 3 mg/day, but had it when risperidone, at a dose of 0.5 mg/day, was combined with fluoxetine. A MEDLINE search failed to find any reports about such an interaction.

  9. Unilateral gynecomastia: The assessment of 23 patients

    Salih Onur Basat


    Results: 11 patients were treated by strictly gland excision, four patients with only liposuction and eight patients with gland excision combined with liposuction. Gynecomastia was seen on the left side of the chest in 13 patients and on the right side in 10 patients. There were no complications. The specimens did not reveal any malignant causes. Conclusion: Although most cases gynecomastia are idiopathic and bilateral, there are instances that require special at- tention and should be given unilateral status. Detailed evaluation including physical examination, history of drug use and concomitant medical disorders should be considered. [Arch Clin Exp Surg 2016; 5(4.000: 206-210

  10. Prepubertal gynecomastia linked to lavender and tea tree oils.

    Henley, Derek V; Lipson, Natasha; Korach, Kenneth S; Bloch, Clifford A


    Most cases of male prepubertal gynecomastia are classified as idiopathic. We investigated possible causes of gynecomastia in three prepubertal boys who were otherwise healthy and had normal serum concentrations of endogenous steroids. In all three boys, gynecomastia coincided with the topical application of products that contained lavender and tea tree oils. Gynecomastia resolved in each patient shortly after the use of products containing these oils was discontinued. Furthermore, studies in human cell lines indicated that the two oils had estrogenic and antiandrogenic activities. We conclude that repeated topical exposure to lavender and tea tree oils probably caused prepubertal gynecomastia in these boys.

  11. Ultrasonographic and pathologic correlation in cases of gynecomastia

    Kook, Shin Ho; Lee, Seung Hee; Kim, Myung Sook; Pae, Won Kil [Kangbuk Samsung Hospital, Seoul (Korea, Republic of)


    To define and correlate characteristic sonographic and pathologic findings in men with gynecomastia. We reviewed medical records and sonographic findings of 26 patients with pathologically proven gynecomastia. All of the chief symptoms, physical findings and causes were categorized. Characteristic sonographic patterns of gynecomastia were analyzed and compared with pathologic findings. Gynecomastia was most common in the 20- to 40-year-old age group (50%)6; palpable mass was found in 62% of all those cases. Gynecomastia was unilateral or asymmetrical in 22 men (85%), and was caused idiopathically in 21 (81%). The characteristic sonographic patterns correlated with pathologic findings were as follows:(1) focal subareolar smooth oval (or triangular) indistinct margined homogeneous hypoechoic (or isoechoic) patterns were found in 14 cases (54%). Eight of these (57%) were of the florid type of gynecomastia (67%);(2) diffuse homogeneous hyperechoic (or isoechoic) patterns were found in five cases (19%);four of these (80%) were of the intermediate or fibrotic type:(3) involuting female breast parenchymal patterns were found in seven cases (27%), of which six (86%) were of the intermediate or fibrotic type. The characteristic sonographic patterns of gynecomastia correlate closely with pathologic types related to the duration of the condition. Ultrasonography is a useful primary diagnostic modality for the evaluation of gynecomastia.

  12. Euprolactinemic gynecomastia and galactorrhea with risperidone-fluvoxamine combination.

    Pratheesh, P J; Praharaj, Samir Kumar; Srivastava, Ashish


    Risperidone is associated with hyperprolactinemia and its consequent symptoms such as gynecomastia, galactorrhea and sexual dysfunction in adults, and less so in adolescents. Rarely, serotonin reuptake inhibitors are also associated with such adverse effects. We report a case of gynecomastia and galactorrhea in an adolescent male while on a combination of risperidone and fluvoxamine, although the serum prolactin was within normal range.

  13. Anatomy of the Gynecomastia Tissue and Its Clinical Significance

    Blau, Mordecai; Hazani, Ron


    Background: Gynecomastia is a very common entity in men, and several authors estimate that approximately 50% to 70% of the male population has palpable breast tissue. Much has been published with regard to the etiology, diagnosis, and treatment of gynecomastia. However, the anatomy of the gynecomastia tissue remains elusive to most surgeons. Purpose: The purpose of this article was to define the shape and consistency of the glandular tissue based on the vast experience of the senior author (MB). Patients and Methods: Between the years 1980 and 2014, a total of 5124 patients have been treated for gynecomastia with surgical excision, liposuction, or a combination of both. A total of 3130 specimens were collected with 5% of the cases being unilateral. Results: The specimens appear to have a unifying shape of a head, body, and tail. The head is semicircular in shape and is located more medially toward the sternum. The majority of the glandular tissue consists of a body located immediately deep to the nipple areolar complex. The tail appears to taper off of the body more laterally and toward the insertion of the pectoralis major muscle onto the humerus. Conclusions: This large series of gynecomastia specimens demonstrates a unique and unifying finding of a head, body, and tail. Understanding the anatomy of the gynecomastia gland can serve as a guide to gynecomastia surgeons to facilitate a more thorough exploration and subsequently sufficient gland excision. PMID:27622122

  14. Tutankhamun and his brothers. Familial gynecomastia in the Eighteenth Dynasty.

    Paulshock, B Z


    Many images of the last four hereditary pharaohs of the Eighteenth Egyptian Dynasty (1559 BC to 1319 BC), Amenophis III, Amenophis IV (also known as Akhenaten), Smenkhkare, and Tutankhamun, show them with gynecomastia. Amenophis III was most probably the sire of the last three. The feminine physique and other abnormalities of Amenophis IV have been extensively commented on as indicative of some sort of pathological condition, but the gynecomastia of the others, including Tutankhamun, has been glossed over or considered an artistic mannerism of the El Amarna period. An alternative theory, that the gynecomastia was actually representational and indicative of a familial abnormality in two or three generations, is suggested.

  15. Gynecomastia Following Cytotoxic Therapy in a Patient with Testicular Cancer

    Barış Akıncı


    Full Text Available Gynecomastia is the development of abnormal breast tissue in men. Relatively increased estrogen action on tissue level is believed to play a main role in the pathogenesis of the entity. Here, we describe a patient with painless gynecomastia presenting after cytotoxic chemotherapy for testicular cancer. Further investigations showed no evidence of disease progression, recurrence, or metastasis. We suggest that the clinicians should be aware that gynecomastia may follow cytotoxic chemotherapy for testicular cancer and does not reflect the return of malignancy. Turk Jem 2008; 12: 86-7

  16. Evaluation of 30 patients with gynecomastia surgically treated

    Nurettin Yiyit


    Conclusions; Surgery is the most effective  treatment of gynecomastia. The most suitable surgical tecnique should be selected according to the skin redundancy. The target always must be breast reduction by the tecnique to provide the best symmetry and leave at least scar.

  17. Pathogenetic therapeutic tactics in case of true gynecomastia

    V. A. Ivanov


    Full Text Available The characteristics of the treatment tactics of the non-nodular forms of gynecomastia as mammary gland’s cancer prevention is given in the ar- ticle on the basis of the own observations and the example of the work of domestic and foreign authors. Variants of the mono- and combined drug therapy are analyzed. Treatment results are given. An attempt was made to determine the priority of the treatment variants being used.

  18. Gynecomastia in Patients with Prostate Cancer: A Systematic Review.

    Anders Fagerlund

    Full Text Available Gynecomastia and/or mastodynia is a common medical problem in patients receiving antiandrogen (bicalutamide or flutamide treatment for prostate cancer; up to 70% of these patients result to be affected; furthermore, this can jeopardise patients' quality of life.To systematically review the quality of evidence of the current literature regarding treatment options for bicalutamide-induced gynecomastia, including efficacy, safety and patients' quality of life.The PubMed, Medline, Scopus, The Cochrane Library and SveMed+ databases were systematically searched between January 1, 2000 and December 31, 2014. All searches were undertaken between January and February 2015. The search phrase used was:"gynecomastia AND treatment AND prostate cancer". Two reviewers assessed 762 titles and abstracts identified. The search and review process was done in accordance with the PRISMA statement. The PICOS (patients, intervention, comparator, outcomes and study design process was used to specify inclusion criteria. Quality of evidence was rated according to GRADE.Primary outcomes were: treatment effects, number of complications and side effects. Secondary outcome was: Quality of Life.Eleven studies met the inclusion criteria and are analysed in this review. Five studies reported pharmacological intervention with tamoxifen and/or anastrozole, either as prophylactic or therapeutic treatment. Four studies reported radiotherapy as prophylactic and/or therapeutic treatment. Two studies compared pharmacological treatment to radiotherapy. Most of the studies were randomized with varying risk of bias. According to GRADE, quality of evidence was moderate to high.Bicalutamide-induced gynecomastia and/or mastodynia can effectively be managed by oral tamoxifen (10-20 mg daily or radiotherapy without relevant side effects. Prophylaxis or therapeutic treatment with tamoxifen results to be more effective than radiotherapy.

  19. Gynecomastia Management: An Evolution and Refinement in Technique at UT Southwestern Medical Center

    Bailey, Steven H.; Guenther, Dax; Constantine, Fadi


    Summary: Gynecomastia is a benign proliferation of male breast glandular tissue. Gynecomastia can affect men at any stage of life. Traditional treatment options involved excisional surgeries with periareolar or T-shaped scars, which can leave more visible scars on the chest. The technique presented represents a technique used by the senior author, which relies on ultrasonic liposuction and pull-through technique to remove breast tissue. A retrospective chart review was performed, including all patients who were treated, from 2000 to 2013 by the senior author, for gynecomastia. A deidentified database was created to record patient characteristics, including age, height, weight, ptosis, stage of gynecomastia, and gynecomastia classification. Surgical approaches, complications, and revisions were also recorded. Our experience includes 75 patients with all grades of gynecomastia from 2000 to 2013. These cases span the evolution of our technique to include direct pull-through excision with ultrasound-assisted liposuction. The distribution of the grades I, II, III, and IV ptosis was 30.6%, 36 %, 22.6%, and 10.6% respectively. There were no complications in this series. Only one patient with grade III ptosis required revision surgery. This technique provides a safe and aesthetically pleasing way to treat gynecomastia with a low need for revision. PMID:27482482

  20. Giant, solid, invasive prolactinoma in a prepubescent boy with gynecomastia.

    Furtado, Sunil V; Saikiran, Narayanam A; Ghosal, Nandita; Hegde, Alangar S


    Pituitary adenomas are extremely rare in prepubescent children. Most of these tumors are functioning adenomas, but can also present with vision disturbances and changes in body morphology. We discuss the presentation, management, and outcome of a giant, solid, invasive prolactinoma in a 7-year-old boy who presented with visual disturbances and gynecomastia. The child demonstrated significant improvement in vision and a reduction in size of the tumor after subtotal tumor decompression and treatment with oral bromocriptine for 4 months. Tumor decompression and oral dopamine agonist therapy comprise the accepted treatment for pediatric prolactinomas. To our knowledge, only two previous reports described a giant prolactinoma in a prepubescent child. The relevant literature on pediatric pituitary tumours and prolactinoma is reviewed.

  1. Ginecomastia: um efeito colateral raro da isoniazida Gynecomastia: a rare adverse effect of isoniazid

    Nelson Morrone


    Full Text Available Relata-se o caso de um paciente que desenvolveu ginecomastia duas vezes após tratamento para tuberculose. Homem de 18 anos de idade foi tratado com o esquema isoniazida-rifampicina-pirazinamida; no terceiro mês desenvolveu ginecomastia bilateral, dolorosa, com regressão parcial ao final do tratamento. Foi retratado oito anos após com o mesmo regime, e a ginecomastia recorreu após seis meses de tratamento. Dosagens hormonais foram normais, e a mamografia revelou ginecomastia bilateral. A isoniazida foi suspensa, tendo a ginecomastia regredido parcialmente no final do tratamento. Quatro anos após, não foi constatada ginecomastia. Conclui-se que a ginecomastia relacionada à isoniazida regride totalmente após a suspensão da droga e, portanto, o tratamento cirúrgico ou medicamentoso deve ser evitado.We report the case of a patient who twice developed gynecomastia following tuberculosis treatment. An 18-year-old male developed painful bilateral gynecomastia after three months of treatment with the isoniazid-rifampin-pyrazinamide regimen. Partial resolution of gynecomastia was achieved at the end of treatment. The patient was retreated with the same regimen eight years later, and gynecomastia recurred after six months of treatment. Hormone levels were normal, and a mammogram revealed bilateral gynecomastia. The isoniazid was discontinued, and the gynecomastia was partially resolved by the end of treatment. Four years later, gynecomastia was not detected. We conclude that isoniazid-related gynecomastia completely resolves when the medication is discontinued. Therefore, pharmacological and surgical treatment should be avoided.

  2. Gynecomastia Surgery Is Associated with Improved Nipple Location in Young Korean Patients

    Bo Hyung Lee


    Full Text Available BackgroundGynecomastia is benign enlargement of breast tissue in males and is fairly common. Mastectomy not only helps in improving the shape of anterior chest, but can also improve the location of nipple. Therefore, a principle element of mastectomy design is defining the normal location of nipple based on major anatomical reference points. Here, the nipple location was compared for before and after gynecomastia surgery. In addition, the same was also compared between male patients undergoing gynecomastia surgery and control group of subjects without gynecomastia.MethodsWe retrospectively analyzed gynecomastia patients who underwent conventional subcutaneous mastectomy. Preoperative and postoperative anatomical landmark distances and chest circumferences were measured and compared to the same anthropometric data from 20 healthy adult male controls.ResultsNipple locations were compared among 13 patients and 20 controls. The mean weight of resected breast tissue was 246 g, and overall patient satisfaction grade was 4.3 out of 5. In the patient group, the slopes for the height-distance from the sternal notch to the nipple and chest circumference-distance between the mid-line of the sternum and the nipple were 0.175 and 0.125 postoperatively, respectively. The slopes of the control group were 0.122 and 0.177, respectively; these differences were statistically significant (P<0.05.ConclusionsNipple positions were considerably lower in patients with gynecomastia than in control subjects. Subcutaneous mastectomy was associated with mild elevations, but postoperative locations were still lower compared to controls. Further efforts are needed to improve the location of postoperative nipple-areola complex in patients with gynecomastia.

  3. Male gynecomastia and risk for malignant tumours – a cohort study

    Bladstrom A


    Full Text Available Abstract Background Men with gynecomastia may suffer from absolute or relative estrogen excess and their risk of different malignancies may be increased. We tested whether men with gynecomastia were at greater risk of developing cancer. Methods A cohort was formed of all the men having a histopathological diagnosis of gynecomastia at the Department of Pathology, University of Lund, following an operation for either uni- or bilateral breast enlargement between 1970–1979. All possible causes of gynecomastia were accepted, such as endogenous or exogenous hormonal exposure as well as cases of unknown etiology. Prior to diagnosis of gynecomastia eight men had a diagnosis of prostate carcinoma, two men a diagnosis of unilateral breast cancer and one had Hodgkin's disease. These patients were included in the analyses. The final cohort of 446 men was matched to the Swedish Cancer Registry, Death Registry and General Population Registry. Results At the end of the follow up in December 1999, the cohort constituted 8375.2 person years of follow-up time. A total of 68 malignancies versus 66.07 expected were observed; SIR = 1.03 (95% CI 0.80–1.30. A significantly increased risk for testicular cancer; SIR = 5.82 (95% CI 1.20–17.00 and squamous cell carcinoma of the skin; SIR = 3.21 (95% CI 1.71–5.48 were noted. The increased risk appeared after 2 years of follow-up. A non-significantly increased risk for esophageal cancer was also seen while no new cases of male breast cancer were observed. However, in the prospective cohort, diagnostic operations for gynecomastia may substantially have reduced this risk Conclusions There is a significant increased risk of testicular cancer and squamous cell carcinoma of the skin in men who have been operated on for gynecomastia.

  4. Irreversible Unilateral Gynecomastia in a Cadaveric Kidney Transplant Recipient



    Full Text Available Gynecomastia (GM is a benign condition characterized by enlargement of the male breast, which is attributed to proliferation of the glandular tissue and local fat deposition. We present here a case with unilateral GM that gradually developed after cadaveric renal transplantation. A 37-year-old man who underwent renal transplantation in 2010 was admitted to our center with complaints of unilateral right-sided GM. There was no nipple discharge, pain or redness in the affected breast. His graft was functioning well. His medications consisted of Cyclosporine (CsA at a dose of 200 mg/d, mycophenolic acid at a dose of 2000 mg/d, prednisolone at a dose of 5 mg/d, doxazosin 8 mg/d, and metoprolol 50 mg/d. CsA-induced GM was considered, and CsA was switched to sirolimus. After two months, GM regression was not observed. Fine needle aspiration of a right breast mass revealed a benign condition. Estrogen and progesterone receptor was strongly positive on microscopic examination of the tissue. GM is a rare condition that is generally caused by CsA treatment. However, GM may persist after the discontinuation of CsA.

  5. Incremental clinical value of ultrasound in men with mammographically confirmed gynecomastia

    Chen, Po-Hao, E-mail: [Harvard Medical School, 25 Shattuck Street, Boston, MA 02115 (United States); Department of Radiology, Hospital of University of Pennsylvania, 3400 Spruce Street, Philadlephia, PA 19104 (United States); Slanetz, Priscilla J., E-mail: [Harvard Medical School, 25 Shattuck Street, Boston, MA 02115 (United States); Beth Israel Deaconess Medical Center, Department of Radiology, 330 Brookline Avenue, Boston, MA 02215 (United States)


    Purpose: To determine whether ultrasound is of any value in male patients presenting with focal symptoms who have classic features of gynecomastia but no concerning findings on mammography. Materials and Methods: Over a 3-year period, all male patients who underwent mammographic evaluation were identified in this retrospective study. Patients with a mammographic diagnosis of gynecomastia and subsequent breast ultrasound at a large tertiary academic medical center comprised the study cohort. Men whose ultrasound diagnosis differed from the initial mammographic evaluation were analyzed for both additional benign findings as well as findings that warranted biopsy. Results: A total of 353 mammograms were obtained from 327 unique patients (ages 18–95, mean 51 years). Of all mammographic examinations, gynecomastia was the sole finding in 73% (259). In those 259 studies, 85% were further evaluated with ultrasound, in which 6 (2.7%) showed additional benign findings, and 4 (1.8%) showed suspicious findings for which biopsy was recommended. No malignancies were detected in those patients. Furthermore, no malignancies were detected in patients whose mammogram revealed only normal fatty parenchyma or only gynecomastia. In all cases of cancer, mammography revealed visible masses. Conclusion: Judicious use of breast ultrasound in men improves outcome. Our data suggest that targeted ultrasound is of limited value in symptomatic male patients where mammography is negative or reveals only gynecomastia and leads to unnecessary benign biopsies in these patients. When mammography reveals concerning findings, ultrasound adds positively to clinical management.

  6. Gynecomastia induced by H1-antihistamine (ebastine) in a patient with idiopathic anaphylaxis.

    Jung, Hwa Sik; Park, Chan-Ho; Park, Young Tae; Bae, Mi Ae; Lee, Youn Im; Kang, Byung Ju; Jegal, Yangjin; Ahn, Jong Joon; Lee, Taehoon


    H1-antihistamine is generally a well-tolerated and safe drug. However, in resemblance with all other drugs, H1-antihistamines can also prompt adverse drug reactions (ADRs). We recently encountered the very unusual ADR of H1-antihistamine-induced gynecomastia. A 21-year-old man with idiopathic anaphylaxis was treated with ebastine (Ebastel), a second-generation H1-antihistamine, for the prevention of anaphylaxis. Three months later, the patient remained well without anaphylaxis, but had newly developed gynecomastia. Because anaphylaxis recurred after the cessation of H1-antihistamine, the preventive medication was changed to omalizumab. A few months later, his gynecomastia had entirely disappeared. Physicians should be aware of this exceptional ADR of H1-antihistamine.

  7. Asymptomatic Incidental Ductal Carcinoma in situ in a Male Breast Presenting with Contralateral Gynecomastia

    Laura M Isley


    Full Text Available Ductal carcinoma in situ (DCIS in males is rare and usually presents with symptoms on the affected side, such as, palpable mass or bloody nipple discharge. Even as DCIS has been reported in conjunction with gynecomastia in the same breast, we report an unusual case of a 62-year-old Caucasian male, with no family history of breast cancer, who presented with symptomatic side gynecomastia, and was incidentally found to have DCIS in a completely asymptomatic left breast. To the best of our knowledge, this case is the first report in literature of asymptomatic, incidentally discovered DCIS in a male patient.

  8. The role of ultrasound-guided vacuum-assisted removal of gynecomastia

    Kim, You Me [Dankook University Hospital, Cheonan (Korea, Republic of)


    To evaluate the role of performing ultrasound (US)-guided vacuum-assisted breast biopsies for the treatment (mammotome excision) of gynecomastia. Between November 2005 and December 2006, nine male patients underwent US-guided mammotome excision for eleven cases of true gynecomastia. The patient ages ranged from 14 to 55 years (mean age, 32.3 years). US-guided mammotome excision was performed with an 11-gauge needle in seven cases and an 8-gauge needle in four cases. After the procedure, the cigarette method using gauze packing was performed. The number of samples, procedure time and presence of complications were evaluated. Scheduled follow-up physical and US examinations were performed after three and six months. For 11 cases of US-guided mammotome excision of gynecomastia, the number of samples ranged from 12-126 (mean, 66) and the procedure time ranged from 10-42 minutes (mean time, 25.1 minutes). Clinical significant complications did not occur immediately after the procedure and complications were not seen after a follow-up examination in any of the cases. At the 3-and 6-month follow up examinations, all of the patients showed a normal male physical appearance on a physical examination and there was no evidence of hypoechoic glandular tissues as seen on ultrasonograms. US-guided mammotome excision is effective for the treatment of small, glandular true gynecomastia and is suggested as a new modality to replace the need for surgery or liposuction.

  9. Prepubertal unilateral gynecomastia and the presence of 47,XXY mosaicism in breast epithelial cells

    Andersen, Peter Stemann; Petersen, Bodil Laub; Juul, Anders


    , and sclerotherapy with Picibanil (OK-432) was attempted without any detectable effect on size. The mass was later excised. The pathological examination revealed mammary gland tissue suggestive of idiopathic gynecomastia. FISH revealed 47, XXY mosaicism in the abnormal breast epithelial cells, but not in peripheral...

  10. Gynecomastia, obesity and underdeveloped testis and penis: suspected hypophysitis successfully cured with low dose of cyclosporine A

    LI Hong-tao; WANG Shu-ting; QIU Ming-cai


    @@ Gynecomastia, characterized by the growth of breast glandular tissue in boys, is occasionally seen in clinics. This growth can manifest at any age, but 40% of cases present in adolescent boys. Even though gynecomastia is a benign condition, patients are often emotionally burdened by this condition. The pathophysiological process of gynecomastia is mainly due to the imbalance between testosterone and free estrogen effects on the breast tissue, and hormone therapy.1-3 The disease is characterized by declined testosterone and slightly elevated estrogen.

  11. Ectopic gynecomastia: report of occurrence in a male patient with type 1 diabetes

    Serpa, Bruna S.; Scoppetta, Luiz Raphael Pereira Donoso; Moraes, Paula Camargo; Funari, Marcelo Buarque de Gusmao, E-mail: brunass@einstein.b [Hospital Albert Einstein, Sao Paulo, SP (Brazil). Dept. of Imaging


    We report a case of breast tissue development at the usual insulin injection area, on both iliac fossa. There is no report in the literature that shows relation between hypertrophy, and/or increase of in vivo breast tissue and insulin stimulus. To our knowledge, this is the first case of ectopic gynecomastia reported in the literature. Male patient, 52 years, diabetic, sought to the Emergency Department due to abdominal pain. Abdomen computed tomography scan incidentally identified tissue with the same morphological and attenuation characteristics of the breast in the subcutaneous of both iliac fossa, at the usual insulin injection site. The patient was also submitted to complementary ultrasound exam. Ectopic gynecomastia is a possible entity, considering embryology and hormone aspects, but literature has no record of such cases in men. Another intriguing point is that the preeminence of the breast tissue occurred only at the chronic insulin injection area, a stimulating hormone, known to be mitogenic. (author)

  12. Unilateral gynecomastia and hypokalemic periodic paralysis as first manifestations of Graves' disease.

    Wang, Yufan; Zhao, Li; Li, Fan; Chen, Hai-xi; Fang, Fang; Peng, Yong-de


    A 39-year-old Chinese man presented to the study hospital with right-sided gynecomastia. Underlying Graves' disease was not diagnosed until recurrent episodes of hypokalemic periodic paralysis were observed. The estradiol (E2) and progesterone levels and the E2-to-testosterone (T) (E2/T) ratio of the patient were elevated before treatment. Immediate intravenous potassium supplementation was started to reverse the paralysis. Additionally, antithyroid drugs were administered to restore a euthyroid state. After treatment, the patient gained strength. Gynecomastia regressed with a return to the euthyroid state; the E2 and progesterone levels normalized and the plasma E2/T ratio declined. In addition to the classic symptoms, some atypical symptoms of Graves' disease may also occur. One of the challenges lies in recognizing the underlying etiology. Early diagnosis and appropriate treatment can avoid unnecessary investigations and serious cardiopulmonary complications.

  13. Gynecomastia induced by H1-antihistamine (ebastine) in a patient with idiopathic anaphylaxis

    Jung, Hwa Sik; Park, Chan-Ho; Park, Young Tae; Bae, Mi Ae; Lee, Youn Im; Kang, Byung Ju; Jegal, Yangjin; Ahn, Jong Joon; Lee, Taehoon


    H1-antihistamine is generally a well-tolerated and safe drug. However, in resemblance with all other drugs, H1-antihistamines can also prompt adverse drug reactions (ADRs). We recently encountered the very unusual ADR of H1-antihistamine-induced gynecomastia. A 21-year-old man with idiopathic anaphylaxis was treated with ebastine (Ebastel), a second-generation H1-antihistamine, for the prevention of anaphylaxis. Three months later, the patient remained well without anaphylaxis, but had newly ...

  14. Severe gynecomastia due to anti androgens intake: A case report and literature review

    Chentli Farida


    Full Text Available Gynecomastia is the most bothersome side effect in men taking antiandrogens. It is exceptionally severe and distressing physically and mentally as in the reported case. A man, aged 63, with a history of a well-treated macroprolactinoma, was referred in 2004 for gynecomastia that appeared after treatment by microsurgery, radiotherapy and flutamide for a lesion suspected to be prostate cancer. Clinical examination was normal except for huge enlargement of the breasts. Mammography and breasts MRI did not show any tumor. There was not any metastasis of the supposed prostate cancer and prostatic acid phosphates were within normal ranges. Hormonal exploration showed subclinical hypogonadism [testosterone: 7.4 ng/ml (n: 3-9, FSH: 14.9 mu/ml (n: 0.7-11 and LH: 9.7 mu/ml (n: 0.8-7.6]. Testes ultrasounds were normal. Radiological and hormonal adrenal explorations were normal [Cortisol: 76 ng/ml (n: 50-250, DHEA-S: 59 μg/ml (n: 50-560, E2:40.2 pg/ml (n < 50]. Body scan was normal too. The discussed etiologies were post radiation subclinical hypogonadism, and treatment with anti androgens. After flutamide withdraw, there was not any sign of prostate cancer recurrence, and gynecomastia decreased significantly, but did not disappear probably because of fibrosis.

  15. Risk of gynecomastia and breast cancer associated with the use of 5-alpha reductase inhibitors for benign prostatic hyperplasia

    Hagberg KW


    Full Text Available Katrina Wilcox Hagberg,1 Hozefa A Divan,2 Shona C Fang,2 J Curtis Nickel,3 Susan S Jick1 1Boston Collaborative Drug Surveillance Program, Boston University School of Public Health, Lexington, 2New England Research Institutes, Inc., Watertown, MA, USA; 3Kingston General Hospital, Queen’s University, Kingston, ON, Canada Background: Clinical trial results suggest that 5-alpha reductase inhibitors (5ARIs for the treatment of benign prostatic hyperplasia (BPH may increase the risk of gynecomastia and male breast cancer, but epidemiological studies have been limited. Patients and methods: We conducted a cohort study with nested case–control analyses using the UK Clinical Practice Research Datalink. We identified men diagnosed with BPH who were free from Klinefelter syndrome, prostate, genital or urinary cancer, prostatectomy or orchiectomy, or evidence of gynecomastia or breast cancer. Patients entered the cohort at age ≥40 years and at least 3 years after the start of their electronic medical record. We classified exposure as 5ARIs (alone or in combination with alpha blockers [ABs], AB only, or unexposed to 5ARIs and ABs. Cases were men who had a first-time diagnosis of gynecomastia or breast cancer. Incidence rates and incidence rate ratios (IRRs with 95% confidence intervals (CIs in the gynecomastia analysis and crude and adjusted odds ratios (ORs with 95% CIs in both analyses were calculated. Results: Compared to no exposure, gynecomastia risk was elevated for users of 5ARIs (alone or in combination with ABs in both the cohort (IRR=3.55, 95% CI 3.05–4.14 and case–control analyses (OR=3.31, 95% CI 2.66–4.10, whereas the risk was null for users of AB only. The increased risk of gynecomastia with the use of 5ARIs persisted regardless of the number of prescriptions, exposure timing, and presence or absence of concomitant prescriptions for drugs known to be associated with gynecomastia. The risk was higher for dutasteride than for


    E. Santos


    Full Text Available Due to valorization of body appearance, the seek for a good physic body gets a central importance in externalization of subjectivity and in the construction the identities of the people. Because of this, them invest time to look for devices to streamline results to get a perfect body, between mechanisms used there is the use of anabolic steroids (AS. With the rapid response this kind of treatment, there are aware concerns their side effects such as gynecomastia which is characterized by breast enlargement of man. In an attempt to prevent this effect aesthetically uncomfortable, the users seek take medicines such as tamoxifen to reverse or prevent this situation without proper prescription or monitoring of a pharmacist professional, as well as almost all treatments with EA which are made clandestinely. This work aimed to describe profile among consumers seeking the tamoxifen therapy to prevent or treat gynecomastia induced using EA. The target audience was composed of bodybuilders men that were making anabolic cycles, aiming fast muscular hypertrophy. Two questionnaires were applied, one to the drugstores that sell these drugs and one for bodybuilders who buy these drugs. Tamoxifen user profile found in this study shows that they are young people aged 18 to 35 years old, seeking muscle hypertrophy strength. As the natural results are slow, influenced by training friends, start using EA, even declaring know about the risks to health. Use along with these steroids, tamoxifen, in an attempt to prevent or treat gynecomastia, get the medication in drugstores without a prescription and without the pharmacist questioning, demonstrating that pharmaceutical care is still not fully deployed and functioning

  17. Treatment of gynecomastia%男性乳房发育症的处理



    Objective To explore the pathologic causes,pathogenesis,and a optimal diagnostic and treatment method for gynecomastia.Methods From January 1999 to December 2008, 268 patients with gynecomastia were treated in our hospital. Their data were analyzed comprehensively combined with document review. Chi-square test was used for the analysis of numeration data.Results Among the 268 patients, 240 had physiological gynecomastia, and 28 had pathological gynecomastia. Acording to the pathologic causes, of the 28 pathological gynecomastia patients, 12 had drug-induced gynecomastia, 11 had tumor-induced gynecomastia (lung cancer in 4, gastric cancer in 2, adrenal neoplasm in 2, testicular tumor in 2, and renal-cell carcinoma in 1), and 5 patients were induced by other causes including Klinefelter's syndrome in 2, thyrotoxicosis in 1, hypothyreosis in 1 and uremia in 1. The results of follow-up showed the rate of complete regression of gynecomastia was 72.73%(56/77)in the clinical observation group, and 77.34(99/128)in drug treatment group.The curative effect had no significant difference between the tamoxifen group and the Rupisanjiejiaonang group (χ2=0.289,P=0.591), the rate of breast pain relief was 85.16%(109/128) and similar in the two groups, 84.12%(53/63) in the tamoxifin group and 86.15%(56/65) in the Rupisanjiejiaonang group,respectively.Conclusion Most gynecomastia cases are physiological and do not need treatment. Chinese medical therapy (Rupisanjiejiaonang) not only improves breast pain and tenderness but also increases the rate of complete regression, moreover, the curative effect is not statistically different between Rupisanjiejiaonang and tamoxifen, and Rupisanjiejiaonang has no obvious side-effects.%目的 探讨男性乳房发育症的病因、发病机制及最佳诊断和治疗方法.方法 将本院自1999年1月至2008年12月门诊诊治和收住院的268例男性乳房发育症患者的临床资料结合文献复习进行综合分析.

  18. Risk of gynecomastia and breast cancer associated with the use of 5-alpha reductase inhibitors for benign prostatic hyperplasia

    Hagberg, Katrina Wilcox; Divan, Hozefa A; Fang, Shona C; Nickel, J Curtis; Jick, Susan S


    Background Clinical trial results suggest that 5-alpha reductase inhibitors (5ARIs) for the treatment of benign prostatic hyperplasia (BPH) may increase the risk of gynecomastia and male breast cancer, but epidemiological studies have been limited. Patients and methods We conducted a cohort study with nested case–control analyses using the UK Clinical Practice Research Datalink. We identified men diagnosed with BPH who were free from Klinefelter syndrome, prostate, genital or urinary cancer, prostatectomy or orchiectomy, or evidence of gynecomastia or breast cancer. Patients entered the cohort at age ≥40 years and at least 3 years after the start of their electronic medical record. We classified exposure as 5ARIs (alone or in combination with alpha blockers [ABs]), AB only, or unexposed to 5ARIs and ABs. Cases were men who had a first-time diagnosis of gynecomastia or breast cancer. Incidence rates and incidence rate ratios (IRRs) with 95% confidence intervals (CIs) in the gynecomastia analysis and crude and adjusted odds ratios (ORs) with 95% CIs in both analyses were calculated. Results Compared to no exposure, gynecomastia risk was elevated for users of 5ARIs (alone or in combination with ABs) in both the cohort (IRR=3.55, 95% CI 3.05–4.14) and case–control analyses (OR=3.31, 95% CI 2.66–4.10), whereas the risk was null for users of AB only. The increased risk of gynecomastia with the use of 5ARIs persisted regardless of the number of prescriptions, exposure timing, and presence or absence of concomitant prescriptions for drugs known to be associated with gynecomastia. The risk was higher for dutasteride than for finasteride. 5ARI users did not have an increased risk of breast cancer compared to unexposed men (OR=1.52, 95% CI 0.61–3.80). Conclusion In men with BPH, 5ARIs significantly increased the risk of gynecomastia, but not breast cancer, compared to AB use and no exposure. PMID:28228662

  19. Adolescent gynecomastia is associated with a high incidence of obesity, dysglycemia, and family background of diabetes mellitus

    Bindu Kulshreshtha


    Full Text Available Background: Gynecomastia during adolescence is common though etiology is not clear. We studied the clinical and hormonal profile of adolescent patients with gynecomastia. Methodology: Patients who had onset of breast development between age 10 and 20 years were included in this study. Their clinical profile, biochemical, and hormonal parameters were studied. Results: Of 94 patients with gynecomastia, 4 had hypogonadotropic hypogonadism, 4 had hypergonadotropic hypogonadism, and 1 had fibroadenosis, but in majority (90.4%, no apparent cause for breast enlargement was evident. In the idiopathic group, majority were obese (63%. Fourteen (16% patients had impaired fasting glucose or impaired glucose tolerance. Another twenty patients had subtle abnormalities (high 1 h glucose or glucose peak at 2 h. Twenty-nine percent of lean and 38% of obese patients had mild abnormalities in glucose profile. Sixty percent of patients had family background of diabetes. Obese patients had lower testosterone as compared to lean patients; however, estradiol, luteinizing hormone, and follicle-stimulating hormone levels were similar in the two groups. Conclusion: Gynecomastia during adolescence is associated with obesity, dysglycemia, and family background of diabetes mellitus.

  20. Prevention of Gynecomastia and Breast Pain Caused by Androgen Deprivation Therapy in Prostate Cancer: Tamoxifen or Radiotherapy?

    Arruda Viani, Gustavo, E-mail: [Department of Radiation Oncology, Marilia Medical School, Marilia, Sao Paulo (Brazil); Bernardes da Silva, Lucas Godoi; Stefano, Eduardo Jose [Department of Radiation Oncology, Marilia Medical School, Marilia, Sao Paulo (Brazil)


    Purpose: To determine, in a meta-analysis, whether gynecomastia and breast pain rates in men with prostate cancer treated with androgen deprivation therapy (ADT) are reduced if treated with prophylactic radiotherapy (RT) or tamoxifen (TMX). Methods and Materials: The MEDLINE, EMBASE, CANCERLIT, and Cochrane Library databases, as well as proceedings of annual meetings, were systematically searched to identify randomized, controlled studies comparing RT or TMX with observation for men with prostate cancer using ADT. Results: Six RCTs (three RT trials and three TMX trials, N = 777 patients total) were identified that met the study criteria. Pooled results from these RCTs comparing RT vs. observation showed a significant reduction in the incidence of gynecomastia and breast pain rates in patients treated with RT (odds ratio [OR] = 0.21, 95% confidence interval [CI] = 0.12-0.37, p < 0.0001, and OR = 0.34, 95% CI 0.20-0.57, p < 0.0001, respectively). Use of RT resulted in an absolute risk reduction (ARR) of 29.4% and 19.9%, with a number needed to treat (NNT) of 3.4 and 5 to avoid one case of gynecomastia and breast pain, respectively. Pooled results from trials comparing TMX vs. observation showed a statistical benefit for breast pain and gynecomastia in favor of TMX arms (OR = 0.04, 95% CI = 0.02-0.08, p < 0.0001 and OR = 0.07, 95% CI = 0.0-0.14, p < 0.00001). TMX resulted in an ARR = 64.1% and 47.6%, with an NNT of 1.56 and 2.1 to avoid one case of gynecomastia and breast pain, respectively. Considering adverse effects, TMX was 6 times more adverse effects than RT. Conclusions: Our data have shown that both TMX and RT prevented gynecomastia and breast pain in patients with prostate cancer receiving ADT for prostate cancer. Although TMX was two times more effective in preventing gynecomastia, RT should represent an effective and safe treatment option, to take into account mainly in patients with cardiovascular risk factors or thrombotic diathesis.

  1. Bilateral pseudoangiomatous stromal hyperplasia tumors in axillary male gynecomastia: report of a case.

    Vega, Roger M; Pechman, David; Ergonul, Burco; Gomez, Carmen; Moller, Mecker G


    Pseudoangiomatous stromal hyperplasia (PASH) is a rare benign proliferation of breast stromal cells with a complex pattern of interanastomosing spaces lined by myofibroblasts. The exact etiology is still unknown, but a proliferative response of myofibroblasts to hormonal stimuli has been postulated. PASH is a relatively common incidental finding in breast tissue removed for other reasons and rarely manifests as a localized mass. Fewer than 150 cases of tumoral PASH have been reported since it was first described in 1986. Although PASH tends to grow over time, most lesions are cured by surgical excision and the prognosis is excellent. We report an unusual case of bilateral axillary tumoral PASH in a 44-year-old man. Awareness of this disease is important when considering the differential diagnosis of axillary masses. To our knowledge, only one other case of unilateral axillary tumoral PASH in a male patient has been described in English and this is the first case of PASH occurring in male bilateral axillary gynecomastia.

  2. Gynecomastia: a common indication for mammography in men of all age.

    Capasso, Raffaella; Sica, A; D'Amora, M; Mostardi, Maurizio; Martella, Ilenia; Totaro, Marilina; Della Casa, Giovanni; Vallara, Manuela; Pesce, Antonella; Gatta, G; Cappabianca, S


    Gynecomastia (GM) is the most frequent cause of male breast-related signs and symptoms and represents also the most common indication for mammography (MX) in men. In this article, our 7-year long experience with MX in men suffering from GM is reviewed, and the mammographic features of GM are presented. MXs performed in male patients at our institution from January 2009 to January 2016 were retrospectively reviewed and patients with mammographic features of GM were selected. Informed consent was waived by the local institutional review board given the retrospective nature of the study. Mammograms were performed in both cranio-caudal (CC) and medio-lateral-oblique (MLO) views according to diagnostic needs. Clinical and pathologic data were obtained by review of patient charts. 37 males (aged between 13-79 years, mean 59 years) referred for MX at our institution because of palpable lump (31/37; 83.8%), breast enlargement (33/37; 89.2%), tenderness or pain (25/37; 67.6%). Of the 37 patients evaluated, 32 (86.5%) had true GM while 5 (13.5%) had pseudoGM. The evaluation of GM can be complex but a stepwise approach that starts with careful history taking and physical examination may obviate the need for extensive work-up. In this context, MX has been shown to be an accurate diagnostic tool for detecting GM and should be the first imaging examination to be performed in all clinically suspicious lesions referred for imaging.

  3. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.

    Monastirli, Alexandra; Stephanou, Georgia; Georgiou, Sophia; Andrianopoulos, Constantinos; Pasmatzi, Efi; Chroni, Elizabeth; Katrivanou, Aggeliki; Dimopoulos, Panagiotis; Demopoulos, Nikos A; Tsambaos, Dionysios


    We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

  4. [Apparent internal male pseudo-hermaphroditism. Gynecomastia. Negative gonad surgical research. Caryotype 46, XX. Presence of H-Y antigen (author's transl)].

    Vague, J; Guidon, J; Mattei, J F; Luciani, J M; Jouve, R; Le Gall, F


    Boy 15. Aspect of delayed puberty with empty scrotum and gynecomastia. Caryotype 46, XX. Presence of H.Y. Antigen. Plasmatic testosterone 1 020 pg/ml. Normal plasmatic FSH and LH. Hypotrophic uterus and tubes. No gonad found. Small right epididymis. Complete virilization by testosterone.

  5. Fibromatosis of the male breast with concurrent florid-type gynecomastia: Report of a case and review of literature.

    El Demellawy, Dina; Herath, Chaturika; Khalil, Mazin; Nasr, Ahmed; Moussa, Bassem


    Fibromatosis is a soft tissue lesion with infiltrative capacity, and is formed of proliferation of fibroblastic and myofibroblastic cells with a significant risk for local recurrence, but no metastatic potential. Fibromatosis is uncommon in the mammary gland, and accounts for less than 0.2% of all primary breast lesions. To the best of our knowledge, it has not been described in the setting of male breast with concurrent florid-type gynecomastia. We report a rare case of a 45-year-old male presenting with a palpable breast mass that was suspicious of carcinoma clinically. Failure of exclusion of metaplastic carcinoma and other lesions in repeated core biopsies lead to excision, which documented the intra-mammary origin of the lesion and established the diagnosis of fibromatosis. The current case demonstrates that fibromatosis in the male breast may have features and a presentation that can be confused with breast cancer. When obvious breast changes and history do not correlate with routine diagnostic measures, the presence of an unusual breast or chest wall tumor, such as a fibromatosis, should be considered in the differential diagnosis. Crown Copyright © 2010. Published by Elsevier GmbH. All rights reserved.

  6. Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.

    Petroli, Reginaldo J; Hiort, Olaf; Struve, Dagmar; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil; Palandi de Mello, Maricilda; Werner, Ralf


    The androgen insensitivity syndrome (AIS) is described as a dysfunction of the androgen receptor (AR) in 46,XY individuals, which can be associated with mutations in the AR gene or can be due to unknown mechanisms. Different mutations in AIS generally cause variable phenotypes that range from a complete hormone resistance to a mild form usually associated with male infertility. The purpose of this study was to search for mutations in the AR gene in a fertile man with gynecomastia and to evaluate the influence of the mutation on the AR transactivation ability. Sequencing of the AR gene revealed the p.Pro695Ser mutation. It is located within the AR ligand-binding domain. Bioinformatics analysis indicated a deleterious role, which was verified after testing transactivation activity and N-/C-terminal (N/C) interaction by in vitro expression of a reporter gene and 2-hybrid assays. p.Pro695Ser showed low levels of both transactivation activity and N/C interaction at low dihydrotestosterone (DHT) conditions. As the ligand concentration increased, both transactivation activity and N/C interaction also increased and reached normal levels. Therefore, this study provides functional insights for the p.Pro695Ser mutation described here for the first time in a patient with mild AIS. The expression profile of p.Pro695Ser not only correlates to the patient's phenotype, but also suggests that a high-dose DHT therapy may overcome the functional deficit of the mutant AR.

  7. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

    Natália D. Linhares


    Full Text Available We report on a 16-year-old boy with a maternally inherited ~18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications. Five previously reported patients with partial Xq duplications presented duplication breakpoints similar to those of our patient. One of them, a fetus with multiple congenital abnormalities, had the same cytogenetic duplication breakpoint. Three of the reported patients shared many features with our proband but the other had some clinical features of the Prader-Willi syndrome. It was suggested that ATRX overexpression could be involved in the major clinical features of patients with partial Xq duplications. We propose that this gene could also be involved with the obesity of the patient with the Prader-Willi-like phenotype. Additionally, we suggest that the PCDH11X gene could be a candidate for our patient's recurrent seizures. In males, the Xq13-q21 duplication should be considered in the differential diagnosis of Prader-Willi syndrome, as previously suggested, and neuromuscular diseases, particularly mitochondriopathies.

  8. 治疗男性乳房发育症两种不同术式比较%Comparison of Two Operative Methods for Treating Gynecomastia

    贺飞龙; 施开德


    目的 比较局部肿胀麻醉下施行乳晕小切口腺体切除术与吸脂联合小切口乳腺切除术治疗男性乳腺发育症的手术效果.方法 将31例脂肪腺体型男性乳腺发育症患者按手术方式的不同分为两组,观察组13例共21侧乳房行吸脂联合小切口腺体切除术,对照组18例共32侧乳房行乳晕小切口腺体切除术,比较两组患者切口长度、手术时间、带管时间、并发症例数、手术疤痕隐蔽程度等指标.结果 观察组患者切口明显小于对照组(P<0.05),两组患者手术时间、带管时间、并发症例数、手术疤痕隐蔽程度等指标比较差异均无统计学意义(P>0.05),随访0.5 ~2a,两组均无复发.结论 肿胀吸脂联合小切口乳腺切除术治疗脂肪腺体型男性乳房发育症创伤小、胸部塑形满意、无复发,是治疗脂肪腺体型男性乳房发育症的理想术式.%Objective To compare curative effects of adenoidectomy via micro-incision of areola and adenomammectomy with liposuction through a small circum-areola incision under tumescent anesthesia on gymecomastia. Method Based on the surgical method,31 patients with gynecomastia were randomly divided into two groups, observation group and control group. In the observation group, 21 sides of breast of 13 patients underwent the adenomammectomy through a small circum-areola incision after liposuction. 21 sides of breast of 18 patients in the control group were received adenomammectomy only. Several indexes of patients in the two groups, including incision length, operative time, drainage tube-keping time, complications and the hidden degree of scar, were compared. Results The incision length of patients in the observation group was smaller than that in control group significantly ( P 0. 05 ). The patients in both groups were followed up for a.half of year to 2 years, in which no recurrence was found. Conclusion The adenomammectomy with the tumescent liposuction through a small

  9. The qualitative research on the psychological experience during the treatment for patients with gynecomastia%男性乳腺发育症患者诊疗期间心理体验的质性研究

    叶敏; 张爱霞; 王爱琳; 朱珠


    目的:探讨男性乳腺发育症患者综合治疗期间的真实心理体验,为临床护理干预提供依据。方法采用质性研究的现象学研究方法,对在南京市妇幼保健院乳腺病中心就诊的9例男性乳腺发育症患者进行深度访谈,对访谈资料进行Colaizzi分析归纳。结果①自我形象的改变;②对疾病强烈的不确定感;③对情感和社会支持的需求。结论深入了解男性乳腺发育症患者诊疗期间的真实体验,提供个性化心理干预,提高男性对乳腺疾病的认识水平,帮助患者建立积极的应对方式,促进患者术后更好地回归社会。%Objective To explore the psychological real-life experience during the comprehensive treatment for patients with gynecomastia, to provide the basis for clinical nursing intervention. Methods Totally 9 patients with gynecomastia treated in the breast disease center in Nanjing Maternal and Child Health Hospital were given an in-depth interviews with phenomenological research method for a qualitative study. Then the data was analyzed and summarized by Colaizzi. Results ①Changes of self-image. ②A strong sense of uncertainty for the disease. ③Demand for emo-tional and social support. Conclusions The real-life experiences of male patients with gynecomastia during the treat-ment period should be deeply understood to provide personalized psychological intervention, raise their awareness for male breast disease, help patients build positive coping countermeasures, and help the patients better return to socie-ty ultimately.

  10. Diagnostic value of high frequency color Doppler ultrasound in gynecomastia%高频彩色多普勒超声在男性乳腺发育症诊断中的应用

    罗开琴; 彭莉; 邓仕军


    目的 探讨高频彩色多普勒超声在男性乳腺发育症诊断中的价值.方法 分析经细胞学及病理检查证实的66例男性乳腺发育症的超声表现.结果 男性乳腺发育双侧6例,右侧19例,左侧41例;无血流信号55例,少许血流信号10例,较丰富血流信号l例;65例呈扇形或梭形低回声,边界清,伴腺管扩张1例;1例低回声伴蟹足样改变;1例伴同侧腋窝淋巴结肿大.结论 高频彩色多普勒超声可实时显示男性乳腺,观察其范围、形态、回声、是否有腺管扩张及彩色血流信号,对男性乳腺发育症诊断有重要的价值.%Objective To evaluate the diagnostic value of high frequency color Doppler ultrasound in gyneco-mastia. Methods Ultrasound loops of 66 patients with gynecomastia verified by pathological results of fine needle aspiration biopsies or operations were reviewed. Results Left breast is most common to be involved (41/66, 62%) and bilateral-breast involvement is most rare. No blood flow signals were shown in most cases (55/66, 83%), while rich blood flow signals were seen in only one case (1/66, 2%). Benign ultrasound features of hypoechogenic fan-shaped or spindle-shaped mass with clear margins were shown in almost all the cases (65/66, 98%) and malignant ultrasound appearances of axillary lymph node enlargement, crab-leg sign and mammary duct expansion were rare (each of the above was seen in only one case). Conclusion High frequency color doppler ultrasound is useful in the diagnosis of gynecomastia by displaying the position, the blood flow signal, the echogenic density and the shape of lesions.

  11. 经不同切口切除腺体治疗男性乳腺发育的疗效分析%Analyzing of the outcomes of gynecomastia patients applied different incision to remove breast tissue

    李万同; 陶凯; 黄威; 王飏; 时杰; 刘晓燕


    目的 观察不同入路手术治疗男性乳腺发育的效果,寻求治疗男性乳腺发育的最优方法.方法 通过回顾性分析,2000年12月至2010年12月年间采用3种不同入路(A组:乳晕下缘半环切口;B组:乳晕周围双环切口;C组:乳房下皱襞切口)治疗的78例(149侧)男性乳腺发育的患者,分别根据患者对术后局部外形、切口瘢痕及乳头乳晕感觉的满意程度,对术后效果进行评价.结果 本组患者中对外形不满意率5.37%.其中A组4.55%、B组6.25%、C组6.90%;对乳头乳晕感觉不满意率6.71%.其中A组5.68%、B组9.37 %、C组6.90%;对术后瘢痕不满意率12.08%.其中A组6.82%、B组25.00%、C组13.79%.结论 患者对术后瘢痕的不满意率最高,其次是乳头乳晕感觉,不满意率最低的是术后的外形.因此,今后手术改进的主要方向是减少术后瘢痕形成.综合评价3种方法,以采用沿乳晕下半环切口入路治疗的患者满意率最高.%Objective In order to find best treatment of gynecomastia, the outcomes of patients applied different incision to remove breast tissue have been evaluated. Methods A retrospective study was performed on 78 patients ( 149 sides ) who underwent surgery for gynecomastia between October of 2000 and October of 2010. According to the different incision, they are divided into 3 groups ( group A:semicircular intra-areolar incision, group B: double circle peri-areolar incision and group C:the infra-mammary fold incision ). The results were analyzed according to the the postoperative appearance, feeling of nipple-areola complex and incision scar. Patient satisfaction in each group was determined from a review of comments during postoperative visits and medical photography records. Results In this patients population, the ratio of patients dissatisfactory to the postoperative appearance is 5. 37% ( group A is 4.55% , group B is 6.25% , and group C is 6.9% );dissatisfactory to the feeling of nipple-areola complex is 6

  12. Liposuction combined with arc sabareolar incision to treat male gynecomastia%吸脂联合乳晕下缘弧形切口治疗男性乳房肥大症

    张树青; 卢彬; 朱光辉


    目的:总结肿胀麻醉脂肪抽吸联合乳晕下缘弧形切口腺体部分切除术治疗男性乳房肥大症的临床疗效,探寻治疗男性乳房肥大症的微创手术方法。方法:2005年1月-2014年12月,对68例136侧男性乳房肥大症患者实行了肿胀麻醉脂肪抽吸联合乳晕下弧形切口腺体部分切除术,切除增生肥大乳腺组织100~300g。结果:除2例患者出现皮下血肿,后经手术清除积血、止血、加压引流好转痊愈;全部均未发生乳头、乳晕缺血、坏死等并发症。经过6~24个月的随访,乳房外形良好,患者满意。结论:吸脂联合乳晕下缘弧形切口腺体部分切除术具有手术损伤轻、出血量少、安全性高、切口痕迹不明显、乳头乳晕无变形、恢复快、患者满意度高等优点,是目前治疗男性乳房肥大症的有效方法。%Objective To summary the clinical effect of tumescent anesthesia liposuction combined with glandular organ partial resection using arc sabareolar incision to treat male gynecomastia and explore the operation method of minimally invasive treatment of male gynecomastia. Methods From Jan 2005 to Dec 2014,68 patients with Bilateral male gynecomastia who had undergone the tumescent anesthesia liposuction combined with glandular organ partial resection using arc sabareolar incision, excision of hypertrophy mammary gland 100-300g. Results All of the patients do not have ischemia, necrosis and other complications in the nipple and areola,except for 2 patients with subcutaneous hematoma who soon recovered after removing hematocele by operation,hemostasis,drainage pressure.After 6 to 24 months follow-up visit,the shape of mammary region is good and every patient satisfies with the operation. Conclusion The tumescent anesthesia liposuction combined with glandular organ partial resection using arc sabareolar incision which has the advantage of less trauma surgery,less blood loss, high safety

  13. 青春期男性乳房发育与生长速率关系研究%Corretation study of gynecomastia and peak height velocity for males at puberty

    王伟; 罗瑞恺; 崔志瑞; 蔡丽霞


    Objective To describe the characteristics for males at puberty in order to elucidate the corretation between pubertal gynecomastia and peak height velocity(PHV).Methods Data about physical growth and sexual development of 136 males at age 8 to 11 years were obtained from pediatric endocrinology center from March 2008 to March 2009 in the third affiliated hospital of Zhengzhou university.General characteristics of height velocity,bone age,insulin-like growth factor-1 (IGF-1)and serum estrogen/serum testosterone were compared and analyze based on different ages,respectively.Results ①When 52 gynecomastia were first observed in the 136 boys in (14.2 ± 1.2)years old,the bone age was (12.9 ± 0.6) years and testicular volume was (9.6 ± 1.8) ml.Their mean age at PHV was (14.6 ± 0.9) years old.PHV was strongly correlated with the age at which gynecomastia was first observed (r =0.902,P < 0.05).②Serum estrogen/serum testosterone level was significantly higher in gynecomastia group than that in none gynecomastia group (P < 0.05).Conclusions Part of the boys may have gynecomastia during the peak height velocity of growth,its mechanism maybe related to the elevation of levels of estrogen/testosterone.%目的 研究136例患儿乳房发育发生率、骨龄、生长速率、睾丸容积以及血清中胰岛素样生长因子(IGF-1)、雌二醇/睾酮含量等,探讨青春期男性乳房发育与生长速率的关系及其可能机制.方法 回顾性研究2008年3月至2009年3月因矮小等原因在郑州大学第三附属医院儿童内分泌诊治中心就诊的136例男孩,年龄8~11(9.4±1.1)岁,睾丸容积≤3 ml,无第二性征发育,每3个月测定身高,观察生长速率、睾丸容积及乳房发育情况;每半年应用TW3方法评定骨龄.结果 ①136例患儿最大生长速率(PHV)年龄为(14.6±0.9)岁,骨龄为(12.9±0.9)岁,其中发现有青春期男性乳房发育52例(38.2%),乳房开始发育年龄为(14.2±1.2)岁,骨龄为(12.9±0.6)

  14. Lipólisis láser y liposucción en ginecomastia: retracción cutánea eficaz y segura Laser-assisted lipolysis for gynecomastia: safe and effective skin retraction

    Mario Trelles


    Full Text Available OBJETIVO: Valorar la eficacia de la lipólisis-láser para corregir el volumen, flacidez y excedente cutáneo sin escisión. MÉTODOS: Prospectivamente, en 32 pacientes con ginecomastia, bajo anestesia tumescente y sedación se realizó lipólisis con láser de diodo 980nm, 15W en emisión continua, 8kJ a 12kJ de energía por mama. Externamente se utilizó aire frío para protección de la piel. Después se utilizó lipoaspiración convencional. No se emplearon drenajes pero si vendaje compresivo. Los pacientes evaluaron los resultados en una escala visual analógica. Dos médicos evaluaron los resultados por fotografías de antes y seis meses después, y midieron las areolas y contorno torácico. RESULTADOS: Veintitrés pacientes consideraron los resultados como Muy Bueno, siete Bueno y dos Regular. La retracción cutánea en la areola fue notable un mes después de la intervención y fue máxima a los seis meses. La valoración de los médicos fue 26 Muy Bueno, cinco Bueno y un Regular. No existieron quemaduras, isquemia, ni lesiones en areolas o pezón. CONCLUSIÓN: La liposucción asistida por láser es eficaz y de ejecución sencilla, poco traumática y permite una temprana reintegración a las actividades.OBJECTIVES: To evaluate efficacy of laser lipolysis in the treatment of gynecomastia to correct breast volume, flaccidity and excess skin without its excision. METHODS: Prospectively, 32 patients with gynecomastia under tumescent anaesthesia and sedation underwent laser lipolysis with 980nm diode laser, 15W continuous emission and 8 to 12 kJ energy per breast. Externally cold air was used to protect the skin. No drainages were used but a compressive bandage. Patients evaluated results on a VAS scale. Two doctors evaluated results comparing before and 6 month after photographs and also measured the areola and chest diameter. RESULTS: Twenty three patients considered results as Very Good, 7 Good and 2 Fair Cutaneous retraction of the areola

  15. Análise comparativa da técnica da incisão em duplo círculo com as técnicas com incisão periareolar e transareolomamilar de correção cirúrgica da ginecomastia Comparative analysis of the double-circle incision and techniques with periareolar and transareolopapilar incision for the surgical correction of gynecomastia

    André Alves Cardoso


    Full Text Available OBJETIVO: comparar a técnica da incisão em duplo círculo (DC com as técnicas de incisão periareolar (PA e transareolomamilar (TAM, na correção da ginecomastia. MÉTODOS: foram revisados os prontuários de 34 pacientes com ginecomastia submetidos à correção cirúrgica no Hospital das Clínicas de Goiânia de 1999 a 2004. Os pacientes foram divididos em três grupos, de acordo com a técnica cirúrgica utilizada. Comparamos as variáveis numéricas paramétricas usando o teste de Tukey. Para as variáveis nominais, foi utilizado o teste do chi2, ou o teste exato de Fisher, quando necessário. Considerou-se significante o pPURPOSE: to compare the double-circle (DC technique to other techniques, with periareolar (PA and transverse nipple-areolar (TNA incisions, for the surgical correction of gynecomastia. METHODS: we studied the medical files of 34 patients from the Federal University of Goiás, submitted to the surgical correction of gynecomastia, from 1999 to 2004. Patients were divided according to the surgical technique used. The parametric numeric variables were compared by Tukey test. The chi2 or the Fisher's exact test was used for nominal variables. It was considered significant a p value<0.05. RESULTS: the mean age of the patients was 27.9 (+12.5 years. There were 43 gynecomastias, 34 unilateral (79.1% and nine (20.9% bilateral. There were 19 breasts operated (44.2% using DC, 14 (33.6% using PA incision, and 10 (23.3%, TNA incision. The mean drain usage was five days for DC and one day for the others (p<0.01. The suction drain was used in 19 cases (100% of DC and two (22% in TNA. The other patients used drains of Penrose (p<0.01. The mean surgical time was significantly larger for DC (73 minutes than for PA (45 minutes and for TNA (48 minutes. DC was used mainly in voluminous gynecomastias (p=0.04. The complications consisted in three (33% hematomas in TNA (p<0.01 and one (5% in DC; one (11% infection in TNA; two (10% partial

  16. A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

    Ozge Ozalp Yuregir


    Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1.000: 60-63

  17. 乳晕下小切口加肿胀吸脂治疗男性乳房发育症%Semicircular periareolar incision and liposuction for treatment of gynecomastia

    王丹丹; 刘林嶓


    目的 评价肿胀麻醉下通过乳晕下小切口配合脂肪抽吸治疗男性乳房发育症的手术方法的临床效果.方法 对23例男性乳房发育患者,17例单纯腺体增生的患者采用乳晕下小切口切除术,6例腺体脂肪混合增生的患者采用脂肪抽吸配合腺体切除术.结果 术后全部患者无乳头乳晕坏死及感觉减退,胸部平坦,外形满意,切口瘢痕隐蔽.结论 根据腺体增生类型采用乳晕下小切口或配合脂肪抽吸术能完整、彻底去除肥大乳腺组织和脂肪组织;该手术方式具有出血少,损伤轻,安全,恢复快,切口瘢痕不明显,乳头乳晕无变形,疗效确切,患者满意度高等优点.%Objective To evaluate the clinical effects of the combined method of liposuction and semicircular periareolar incision for treatment of tumescent anesthesia. Methods Totally 23 patients were accepted for this study. 17 patients of only gland hyperplasia were treated by semicircular periareolar incision, 6 patients of gland with fat hyperplasia were treated by iposuction and semicircular penareolar incision. Results There were no nipple, mammary areola neurosis and nipple hypesthesia in all patients. After operation,the patients had flat chest,satisfied appearance. In addition, there were no clear scars in the chest of all patients. Conclusions The methods of semicircular periareolar incision or combined with method of liposuction can remove the. hypertrophy mammry tissue and adipose tissue according to the tyye of gland hyperplasia. The method has the features of little amount of bleeding, mild damage, safe and quickly recovery. No clear scars, no morph of nipple and mammary areola were found after operation. All patients feel satisfied.

  18. Bilateral breast in brothers - abreast

    Altamash Mohammed Yusuf Shaikh


    Full Text Available Gynecomastia is a common occurrence in pubertal age group, and is physiological in up to 65 percent of cases. When occurs in the family it should be investigated in order not to miss on a treatable etiology. Two brothers within the same family, presenting with bilateral gynecomastia of different causes and requiring different treatment are presented.

  19. NIH study confirms risk factors for male breast cancer

    Pooled data from studies of about 2,400 men with breast cancer and 52,000 men without breast cancer confirmed that risk factors for male breast cancer include obesity, a rare genetic condition called Klinefelter syndrome, and gynecomastia.

  20. Ultrasonography as a diagnostic method in addition to mammography

    Otto, H.; Roer, E.


    By using ultrasonography in addition to mammography, experienced diagnosticians essentially enhance the safety of their diagnosis of mammary gland diseases. The same applies to gynecomastia, the condition after plastic surgery, and mastitis.

  1. Caput medusae in alcoholic liver disease

    include spider angiomas, palmar erythema, icterus, pruritus, gynecomastia, etc. ... The caput medusae was left alone as no specific treatment was deemed ... veins into the abdominal wall veins, which manifest as the caput medusae.[2] The ...

  2. Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome.

    Lower, K.M.; Turner, G.; Kerr, B.A.; Mathews, K.D.; Shaw, M.A.; Gedeon, A.K.; Schelley, S.; Hoyme, H.E.; White, S.M.; Delatycki, M.B.; Lampe, A.K.; Clayton-Smith, J.; Stewart, H.; Ravenswaaij-Arts, C.M.A. van; Vries, L.B.A. de; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.C.; Gecz, J.


    Borjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previousl

  3. Breast Cancer in Men

    ... Older age • B RCA2 gene mutation • F amily history of breast cancer • Gynecomastia (enlargement of the breast tissue) • Klinefelter’s syndrome (a genetic condition related to high levels ...

  4. Síndrome de Klinefelter: diagnóstico raro na faixa etária pediátrica

    Tincani, Bruna J.; Mascagni, Bruno R.; Roberto D. P. Pinto; Guilherme Guaragna-Filho; Carla C. T. S. Castro; Sewaybricker,Letícia E.; Nilma L. Viguetti-Campos; Antonia P. Marques-de-Faria; Maciel-Guerra, Andréa T; Gil Guerra-Júnior


    OBJECTIVE: To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS: The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing horm...

  5. The breasts of Tutankhamun

    Seshadri, Krishna G.


    Despite being an obscure pharaoh who ruled for a very short time, Tutankhamun, the boy king, has reigned popular consciousness since the discovery of his tomb in 1922. To endocrinologists, the depiction of the kings of the 18 th dynasty in an androgynous form complete with gynecomastia has been a source of intrigue and academic curiosity. Many explanations abound. But is the depiction just stylized art? Or did the kings indeed have familial gynecomastia, or aromatase excess with craniosynosto...

  6. The breasts of Tutankhamun

    Krishna G Seshadri


    Full Text Available Despite being an obscure pharaoh who ruled for a very short time, Tutankhamun, the boy king, has reigned popular consciousness since the discovery of his tomb in 1922. To endocrinologists, the depiction of the kings of the 18 th dynasty in an androgynous form complete with gynecomastia has been a source of intrigue and academic curiosity. Many explanations abound. But is the depiction just stylized art? Or did the kings indeed have familial gynecomastia, or aromatase excess with craniosynostosis. An inspired team of researchers used molecular genetic tests to truly lay the Tut controversy to rest..

  7. Hernia uteri inguinalis in a case of ovotesticular disorder of sexual differentiation.

    Venkataram, Aniketh; Shivaswamy, Sadashivaiah; Babu, Rajashekara; Santhosh, Shivashankar


    An 18-year-old phenotypic male presented with an irreducible left inguinal mass, gynecomastia, and hypospadias. This mass on exploration was found to be a nonfunctional uterus with ipsilateral ovary and was excised. Further investigation confirmed the presence of a contralateral testis and a genotype of 46, XX. This confirmed the diagnosis of ovotesticular disorder of sexual differentiation (formerly true hermaphroditism) with obstructed hernia uteri inguinalis. The patient was raised as a male. Subcutaneous mastectomy for gynecomastia and neourethra construction with full thickness skin graft for hypospadias were performed. Hernia uteri inguinalis is rarely seen in this condition with only 2 cases being reported worldwide thus far, including our case.

  8. The breasts of Tutankhamun.

    Seshadri, Krishna G


    Despite being an obscure pharaoh who ruled for a very short time, Tutankhamun, the boy king, has reigned popular consciousness since the discovery of his tomb in 1922. To endocrinologists, the depiction of the kings of the 18(th) dynasty in an androgynous form complete with gynecomastia has been a source of intrigue and academic curiosity. Many explanations abound. But is the depiction just stylized art? Or did the kings indeed have familial gynecomastia, or aromatase excess with craniosynostosis. An inspired team of researchers used molecular genetic tests to truly lay the Tut controversy to rest..

  9. Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome

    Lower, KM; Turner, G; Kerr, BA; Mathews, KD; Shaw, MA; Gedeon, AK; Schelley, S; Hoyme, HE; White, SM; Delatycki, MB; Lampe, AK; Clayton-Smith, J; Stewart, H; van Ravenswaay, CMA; de Vries, BBA; Cox, B; Grompe, M; Ross, S; Thomas, P; Mulley, JC; Gecz, J


    Borjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears(1). Previo

  10. Comparative genomic hybridization analysis of benign and invasive male breast neoplasms

    Ojopi, Elida Paula Benquique; Cavalli, Luciane Regina; Cavalieri, Luciane Mara Bogline


    Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease and compared with cytogenetic analysis in two of the three cases. CGH analy...

  11. Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?

    Besouw, M.T.; Levtchenko, E.N.; Willemsen, M.A.A.P.; Noordam, K.


    Juvenile cystinosis was diagnosed in a patient who presented with severe headache attacks and photophobia. Treatment with oral cysteamine and topical cysteamine eye drops was started. One-and-a-half years later, he developed unilateral gynecomastia and elevated prolactin and growth hormone levels. A

  12. The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

    Turner, G.; Lower, K.M.; White, S.M.; Delatycki, M.B.; Lampe, A.K.; Wright, M.; Smith, J.C.; Kerr, B.A.; Schelley, S.; Hoyme, H.E.; Vries, L.B.A. de; Kleefstra, T.; Grompe, M.; Cox, B.; Gecz, J.; Partington, M.


    The usual description of the Borjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.

  13. Effect of hyperprolactinemia during development in children and adolescents.

    Correll, Christoph U


    Increased levels of prolactin associated with some antipsychotic treatment can potentially lead to serious adverse events including gynecomastia, galactorrhea, oligomenorrhea, amenorrhea, and pituitary tumors. Clinicians may need to employ pharmacotherapeutic interventions such as reducing dosage, switching antipsychotics, or prescribing adjunctive agents to minimize or prevent these negative side effects and improve patients' outcomes.

  14. The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

    Turner, G.; Lower, K.M.; White, S.M.; Delatycki, M.B.; Lampe, A.K.; Wright, M.; Smith, J.C.; Kerr, B.A.; Schelley, S.; Hoyme, H.E.; Vries, L.B.A. de; Kleefstra, T.; Grompe, M.; Cox, B.; Gecz, J.; Partington, M.


    The usual description of the Borjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.

  15. The effect of low-dose spironolactone on resistant hypertension

    Engbaek, Mette; Hjerrild, Mette; Hallas, Jesper;


    an average of 3.7 mmol/L to 4.1 mmol/L (P hyperkalemia in 4.1% of the cases. A total of 18% of all patients had adverse effects, which in 9.9% led to discontinuation of the drug. A total of 5.2% of the males developed gynecomastia. In conclusion, low...

  16. Cd117 and Cd34 Staining Patterns in Childhood Benign Mammary Lesions

    Ayper KAÇAR


    Full Text Available Objective: CD117 and CD34 are markers that have both been implied in cancer progression in adult breast lesions. This study was conducted in order to create a retrospective documentation and to analyze the expression patterns of these markers on childhood benign lesions along with a comparison with adult breast lesions’ staining patterns.Material and Method: Nine fibroadenomas, 2 tubular adenomas, 1 mammary hamartoma, 2 gynecomastias, 1 benign phyllodes tumor were retrieved from pathology archives of two reference centers between 2005-2010.Results: CD117 staining was identified in the epithelium of all cases in fibroadenoma/tubular adenoma group and focally positive in 1 mammary hamartoma, 2 gynecomastias, and 1 benign phyllodes tumor. CD117 staining was detected in the stroma of 8 cases. Three fibroadenomas, 1 mammary hamartoma, 2 gynecomastias and 1 benign phyllodes tumor lacked stromal labelling for this marker. All cases were strongly and diffusely positive for CD34 except the benign phyllodes tumor case. This case presented marked loss of stromal CD34 staining when compared to the surrounding stroma. Additionally, pseudoangiomatous stromal hyperplasia was noted in 2 gynecomastias and in the peritumoral stroma of benign phyllodes tumor case.Conclusion: Our study demonstrated that fibroadenoma was the most commonly encountered breast lesion in childhood and that adolescent fibroadenomas showed similar staining patterns for CD117 and CD34 as for adult counterparts. On the other hand, different expression patterns of CD117 and CD34 between adenoma group and the gynecomastias and benign phyllodes tumor group may implicate different mechanisms of development and tumorigenesis among these groups.

  17. Prostate-specific antigen and hormone receptor expression in male and female breast carcinoma

    Cohen Cynthia


    Full Text Available Abstract Background Prostate carcinoma is among the most common solid tumors to secondarily involve the male breast. Prostate specific antigen (PSA and prostate-specific acid phosphatase (PSAP are expressed in benign and malignant prostatic tissue, and immunohistochemical staining for these markers is often used to confirm the prostatic origin of metastatic carcinoma. PSA expression has been reported in male and female breast carcinoma and in gynecomastia, raising concerns about the utility of PSA for differentiating prostate carcinoma metastasis to the male breast from primary breast carcinoma. This study examined the frequency of PSA, PSAP, and hormone receptor expression in male breast carcinoma (MBC, female breast carcinoma (FBC, and gynecomastia. Methods Immunohistochemical staining for PSA, PSAP, AR, ER, and PR was performed on tissue microarrays representing six cases of gynecomastia, thirty MBC, and fifty-six FBC. Results PSA was positive in two of fifty-six FBC (3.7%, focally positive in one of thirty MBC (3.3%, and negative in the five examined cases of gynecomastia. PSAP expression was absent in MBC, FBC, and gynecomastia. Hormone receptor expression was similar in males and females (AR 74.1% in MBC vs. 67.9% in FBC, p = 0.62; ER 85.2% vs. 68.5%, p = 0.18; and PR 51.9% vs. 48.2%, p = 0.82. Conclusions PSA and PSAP are useful markers to distinguish primary breast carcinoma from prostate carcinoma metastatic to the male breast. Although PSA expression appeared to correlate with hormone receptor expression, the incidence of PSA expression in our population was too low to draw significant conclusions about an association between PSA expression and hormone receptor status in breast lesions.

  18. Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease

    Pedro Enrique Jiménez Caballero


    Full Text Available Kennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter′s syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter′s syndrome. Genetic study of Kennedy′s disease was normal. Our patient differs from those with Kennedy′s disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.

  19. Evaluation of Genomic Instability in the Abnormal Prostate


    and allelic imbalance, were examined in two independent cohorts of mammary carcinomas. Altered telomeres and unbalanced allelic loci were present in...gene amplification in human breast cancer, fibroadenoma , and gynecomastia. Relationship to histologic grade and clinical parameters. Cancer 1994;73...underlying malignant transformation? J Mammary Gland Biol Neoplasia 2004;9: 285–96. 33. O’Connell P, Pekkel V, Fuqua SA, Osborne CK, Clark GM, Allred

  20. Cd117 and Cd34 Staining Patterns in Childhood Benign Mammary Lesions

    KAÇAR, Ayper; Paker, İrem; AKBIYIK, Fatih; ARIKÖK, Ata Türker; MAMBET, Ervin


    Objective: CD117 and CD34 are markers that have both been implied in cancer progression in adult breast lesions. This study was conducted in order to create a retrospective documentation and to analyze the expression patterns of these markers on childhood benign lesions along with a comparison with adult breast lesions’ staining patterns.Material and Method: Nine fibroadenomas, 2 tubular adenomas, 1 mammary hamartoma, 2 gynecomastias, 1 benign phyllodes tumor were retrieved from pathology arc...

  1. Treating symptomatic hyperprolactinemia in women with schizophrenia: presentation of the ongoing DAAMSEL clinical trial (Dopamine partial Agonist, Aripiprazole, for the Management of Symptomatic ELevated prolactin)

    Kelly, Deanna L; Wehring, Heidi J.; Earl, Amber K; Sullivan, Kelli M; Dickerson, Faith B.; Feldman, Stephanie; McMahon, Robert P.; Buchanan, Robert W.; Warfel, Dale; Keller, William R.; Fischer, Bernard A.; Shim, Joo-Cheol


    Prolactin elevations occur in people treated with antipsychotic medications and are often much higher in women than in men. Hyperprolactinemia is known to cause amenorrhea, oligomenorrhea, galactorrhea and gynecomastia in females and is also associated with sexual dysfunction and bone loss. These side effects increase risk of antipsychotic nonadherence and suicide and pose significant problems in the long term management of women with schizophrenia. In this manuscript, we review the literatur...

  2. An Infant Case of Hyperprolactinemia Induced by a Functional Disorder of the Hypothalamus

    Kubo, Toshihide; Furujo, Mahoko


    Although functional hyperprolactinemia originating in the hypothalamus has been observed, there have so far been few reports of this condition occurring in children. This report describes a 1-yr-and-4-mo old boy with hyperprolactinemia due to functional disorder of the hypothalamic region. He was referred to our hospital because of left gynecomastia which had been observed for one month. His left breast development was stage II, right breast stage I, and pubic hair stage I by Tanner stages, a...

  3. Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency

    Sana Doubi; Zoubida Amrani; Hanan El Ouahabi; Saïd Boujraf; Farida Ajdi


    Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin, and diagnosed with this syndrome, who had a small height in relation to a growth hormone (GH) deficiency and a history of absence seizures (generalized myoclonic epilepsy). The patient′s size was

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

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


    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...

  5. Overuse of imaging the male breast-findings in 557 patients.

    Lapid, Oren; Siebenga, Pieter; Zonderland, Harmien M


    Gynecomastia is the most common abnormality of the male breast. However, breast cancer may occur, albeit with a significantly lower incidence than in females. Imaging is often used as part of the diagnosis. The aim of this study was to assess the utilization and outcome of imaging with mammography or ultrasound of the male breast in a university hospital's department of radiology. A retrospective study assessing the imaging of the male breast in 557 patients over a 10-year period. Referral was done mainly by general surgeons and general practitioners. The most common indication was enlargement of the breast, described as gynecomastia or swelling in 74% of patients, followed by pain in 24% and "lumps" in 10%. The modalities used were mammography in 65%, ultrasound in 51% and both in 26%. Most examinations, 519, were BI-RADS 1 or 2, and 38 were BI-RADS 3 or higher. Altogether 160 patients had additional fine-needle aspiration or biopsy. Malignancies were diagnosed in five patients (0.89%). Imaging had a sensitivity of 80% and a specificity of 99%. The positive predictive value was 44% and the negative predictive value 99.8%. Malignancies are rare in the male breast. The probability of finding cancer when performing imaging of clinically benign findings in the male breast is negligible. Imaging is not warranted unless there are suspicious abnormalities. Routine imaging of gynecomastia should be discouraged. © 2015 Wiley Periodicals, Inc.

  6. Risperidone-induced symptomatic hyperprolactinaemia in adolescents.

    Holzer, Laurent; Eap, Chin B


    Studies performed in adult patients unambiguously demonstrate a marked effect of risperidone on prolactin blood levels, with possible clinical effects related to hyperprolactinemia, such as gynecomastia and galactorrhea. However, the largest study performed in children and adolescents showed a weak effect of risperidone on prolactin concentrations during short-term treatment and a negligible effect during long-term treatment, which was probably because of the relatively low dosages of risperidone used [approximately 0.04 mg/(kg x d)]. Among the 10 psychotic adolescents treated with risperidone in our unit, we had 3 cases of gynecomastia in 3 male patients and 2 cases of galactorrhea in 2 female patients. The prolactin blood levels in these cases and in 3 other patients without apparent prolactin-related side effects were all above the normal range (median, 59 ng/mL; range, 30-123 ng/mL). Thus, risperidone administered to adolescents at doses commonly used for the treatment of psychotic symptoms can strongly increase prolactin levels, with clinical consequences such as gynecomastia and/or galactorrhea. Given that the long-term effects of antipsychotic drug-induced hyperprolactinemia are not well documented, especially regarding osteopenia, infertility, growth, and pubertal delay, risperidone should be administered with caution to children and adolescents.

  7. Testis Development and Fertility Potential in Boys with Klinefelter Syndrome.

    Davis, Shanlee M; Rogol, Alan D; Ross, Judith L


    Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with KS throughout the lifespan have allowed the better characterization of the variable phenotype of this condition. This review provides an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in boys and men with KS.

  8. Clinical case of acute myeloblastic leukemia with t(8;21(q22;q22 in a patient with Klinefelter’s syndrome

    Vanya Slavcheva


    Full Text Available Klinefelter’s syndrome is characterized by abnormal karyotype 47, XXY and a phenotype associated with hypogonadism and gynecomastia. Often the disease can be diagnosed accidentally, when carrying out cytogenetic analysis in cases of a malignant blood disease. We present the clinical case of a patient diagnosed with acute myelomonoblastic leukemia- M4 Eo (AML- M4, where by means of classic cytogenetics a karyotype was found corre-sponding to Klinefelter’s syndrome. Three induction courses of polychemotherapy wermade, which led to remission of the disease, documented both flowcytometrically and cytogenetically.

  9. A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10).

    Song, Seung-Hun; Won, Hyung Jae; Yoon, Tae Ki; Cha, Dong Hyun; Shim, Jeong Yun; Shim, Sung Han


    Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

  10. Proteus syndrome: A rare cause of gigantic limb

    Nandini Chakrabarti


    Full Text Available A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, splenomegaly and multiple nevi. Angiography revealed venous malformation within the limb. The findings are in conformity to the criteria for the Proteus syndrome.

  11. The Impact Exerted on Clinical Outcomes of Patients With Chronic Heart Failure by Aldosterone Receptor Antagonists: A Meta-Analysis of Randomized Controlled Trials

    De Vecchis, Renato; Cantatrione, Claudio; Mazzei, Damiana; Barone, Augusto; Maurea, Nicola


    Background Aldosterone receptor antagonists (ARAs) have been associated with improved clinical outcomes in patients with heart failure with reduced left ventricular ejection fraction (HFREF), but not in those with heart failure with preserved left ventricular ejection fraction (HFpEF). With the aim to study this topic more deeply, we carried out a meta-analysis of selective and non-selective ARAs in HFREF and HFpEF. Methods We searched PubMed and Scopus databases. We decided to incorporate in the meta-analysis only randomized controlled trials (RCTs) of ARAs in patients with chronic heart failure (CHF) if they met the following criteria: experimental groups included patients with CHF treated with ARAs in addition to the conventional therapy; control groups included patients with CHF receiving conventional therapy without ARAs. Outcomes of interest were all-cause death, hospitalizations from cardiovascular cause, hyperkalemia, or gynecomastia. Results We detected 15 studies representing 15,671 patients. ARAs were associated with a reduced odds of all-cause death (odds ratio (OR): 0.79; 95% confidence interval (CI): 0.73 - 0.87) and hospitalizations from cardiovascular cause (OR: 0.73; 95% CI: 0.61 - 0.89). However, subgroup analysis showed that these advantages were limited to HFREF (all-cause death: OR: 0.77, 95% CI: 0.69 - 0.84; hospitalizations from cardiovascular cause: OR: 0.66, 95% CI: 0.51 - 0.85), but they did not affect the HFpEF group (all-cause death: OR: 0.91, 95% CI: 0.76 - 1.1; hospitalizations from cardiovascular cause: OR: 0.85, 95% CI: 0.7 - 1.09). ARAs increased the risk of hyperkalemia (OR: 2.17; 95% CI: 1.88 - 2.5). Non-selective ARAs, but not selective ARAs, increased the risk of gynecomastia (OR: 8.22, 95% CI: 4.9 - 13.81 vs. OR: 0.74, 95% CI: 0.43 - 1.27). Conclusions ARAs reduced the risk of adverse cardiac events in HFREF but not HFpEF. In particular, ARA use in HFpEF patients is questionable, since in this CHF type, no significant

  12. Male hypogonadism: Causes, genetics, diagnosis and treatment.

    William Jubiz


    Full Text Available Male hypogonadism represents an altered testicular function with infertility and decreased testosterone production. It can be caused by an intrinsic testicular damage, hypothalamic-pituitary dysfunction, or decreased end organ response to testosterone. Signs include hair loss, decreased sexual function, voice changes, eunuchoidal habitus and gynecomastia. The testes are small and osteoporosis may be present. The diagnosis is suspected clinically and is confirmed with decreased circulating testosterone concentrations. FSH and LH are increased in patients with testicular damage (primary hypogonadism and decreased in those with hypothalamic–pituitary dysfunction. Testosterone is available for intramuscular injection, transdermic patches, gel or pellets and by absorption by the oral mucosa.

  13. Familial epilepsy in the pharaohs of ancient Egypt's eighteenth dynasty.

    Ashrafian, Hutan


    The pharaohs of Egypt's famous eighteenth dynasty all died early of unknown causes. This paper comprehensively reviews and analyses the medical literature and current evidence available for the New Kingdom rulers - Tuthmosis IV, Amenhotep III, Akhenaten, Smenkhkare and Tutankhamun. The integration of these sources reveals that the eighteenth dynasty rulers may have suffered from an inherited condition that may explain their untimely deaths. The description of recurring strong religious visions, likely neurological disease and gynecomastia, supports the theory that these pharaohs may have suffered from a familial temporal epilepsy syndrome that ultimately led to their early downfall.

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

    Prasad Katulanda


    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.

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

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


    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.

  16. Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

    Aicua, Irene; Verhagen, Okker; Arenaza, Naroa; Cubo, Esther


    Background X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. Case Report We report a case of a 58-year-old male with a positive family history of tremor. On examination, the patient had jaw and hand tremors but he also exhibited gynecomastia, progressive bulbar paresis, and wasting and weakness primarily in the proximal limb muscles. The laboratory tests revealed an elevated creatine phosphokinase. Genetic testing was positive for X-SBMA, with 42 CAG repeats. Discussion Essential tremor is one of the most common movement disorders, yet it is important for clinicians to be aware of the presence of other distinguishing features that point to alternative diagnoses. The presence of action tremor associated with muscle atrophy and gynecomastia should lead to a suspicion of SBMA. PMID:25374767

  17. A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with morbid obesity.

    Kim, Youngsook; Kim, Won Jin; Huh, Ji Hye; Lee, Sujin; Kim, Daham; Hong, Jae Won; Lee, Eun Jig


    Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.




    Full Text Available BACKGROUNDS: Fine needle aspiration cytology is an effective modality for diagnosis of breast lesions. Usually male breast lesions are benign and affect the young male. Most common lesion is gynaecomastia. Male breast cancer accounts for a small proportion of breast cancers. Male breast cancer usually presents at an advanced age. OBJECTIVE: The aim of this study was to examine the nature of male breast lesions and to determine the cytomorphologic patterns of these lesions. MET HODS: five year retrospective study was conducted in our institution and in that 112 patients underwent fine needle aspiration cytology of the palpable breast lump after thorough physical examination. The cytological diagnosis was classified as benign, inf lammatory, malignant and others. RESULTS: In 112 male patients diagnosed with breast lesions, the most common lesion was gynecomastia (103/112, 91.9%, followed by breast cancer (6/112, 5.4%, inflammatory (2/112, 1.8% and apocrine metaplasia (01/112, 0.9 %. Gynecomastia was commonly found in male patients less than 40 years of age, while breast cancer is seen in male patients over 40 years of age

  19. The REDUCE metagram: a comprehensive prediction tool for determining the utility of dutasteride chemoprevention in men at risk for prostate cancer

    Carvell eNguyen


    Full Text Available Introduction: 5-alpha reductase inhibitors can reduce the risk of prostate cancer but can be associated with significant side effects. A library of nomograms which predict the risk of clinical endpoints relevant to dutasteride treatment may help determine if chemoprevention is suited to the individual patient. Methods: Data from the REDUCE trial was used to identify predictive factors for nine endpoints relevant to dutasteride treatment. Using the treatment and placebo groups from the biopsy cohort, Cox proportional hazards and competing risks regression models were used to build 18 nomograms, whose predictive ability was measured by concordance index and calibration plots. Results: A total of 18 nomograms assessing the risks of cancer, high-grade cancer, high grade prostatic intraepithelial neoplasia (HGPIN, atypical small acinar proliferation (ASAP, erectile dysfunction (ED, acute urinary retention (AUR, gynecomastia, urinary tract infection (UTI and BPH-related surgery either on or off dutasteride were created. The nomograms for cancer, high grade cancer, ED, AUR, and BPH-related surgery demonstrated good discrimination and calibration while those for gynecomastia, UTI, HGPIN, and ASAP predicted no better than random chance. Conclusions: To aid patients in determining whether the benefits of dutasteride use outweigh the risks, we have developed a comprehensive metagram that can generate individualized risks of 9 outcomes relevant to men considering chemoprevention. Better models based on more predictive markers are needed for some of the endpoints but the current metagram demonstrates potential as a tool for patient counseling and decision making that is accessible, intuitive, and clinically relevant.

  20. Estrogen secreting adrenal adenocarcinoma in an 18-month-old boy: aromatase activity, protein expression, mRNA and utilization of gonadal type promoter.

    Watanabe, T; Yasuda, T; Noda, H; Wada, K; Kazukawa, I; Someya, T; Minamitani, K; Minagawa, M; Wataki, K; Matsunaga, T; Ohnuma, N; Kohno, Y; Harada, N


    We examined clinical, endocrinological and molecular biological aspects of an estrogen-secreting adrenal carcinoma in an 18-month-old male to clarify the pathogenesis of this condition. An 18-month-old boy was referred for evaluation of progressive bilateral gynecomastia and appearance of pubic hair. The patient had elevated plasma estradiol (349 pg/ml) and testosterone (260 ng/dl) levels that completely suppressed FSH and LH levels, and was subsequently diagnosed with an adrenal tumor on the right side. After removal of a 300-g adenocarcinoma, gynecomastia regressed and essentially normal hormone levels were restored. Aromatase activity in the tumor tissue determined by the 3H-water method was 71.0-104.4 pmol/min/mg protein. High levels of aromatase protein and mRNA in the tumor tissue were also demonstrated, while neither aromatase activity nor protein was detected in normal adrenal glands. To investigate the regulation of aromatase expression in the adrenal carcinoma, we examined the usage of alternate promoters responsible for aromatase gene transcription. In the present case, the amounts of aromatase mRNA utilizing gonadal types of exon 1c (1.3) and 1d (II) were significantly higher than those that using other exon 1s. This result suggested that the utilization of a gonadal-type exon 1 might be involved in the over-production of aromatase in estrogen-secreting adrenal carcinoma.

  1. Feminizing adrenocortical adenoma presenting as heterosexual precocious puberty: report of one case.

    Hsiao, Hui-Pin; Chao, Mei-Chyn; Lin, Chao-Yu; Chen, Hsiu-Lin; Chen, Shiu-Lin; Chiou, Shyh-Shin; Chen, Bai-Hsiun


    We report on a case of a 2 2/12-year-old boy with heterosexual precocious puberty secondary to a feminizing adrenocortical adenoma. The boy, with no previous history of disease or treatment, presented with bilateral gynecomastia and pubic hair development (Tanner III breasts and Tanner II pubic hair). Plasma estradiol and testosterone were 410.9 pg/ml and 126.2 ng/dl respectively. Basal plasma LH and FSH levels were within the normal range. Bolus i.v. injection of GnRH showed unresponsiveness of LH and FSH. Abdominal echography and abdominal magnetic resonance imaging revealed a well-defined mass at the left suprarenal region (measuring 4.0 x 2.7 x 3.6 cm in size). After removal of the adrenal tumor, the estradiol and testosterone levels fell to normal in 2 weeks. The gynecomastia and pubic hair regressed with time. The pathology of the tumor showed compact pattern with polygonal cells containing moderate eosinophilic cytoplasm without mitotic figure. These findings were consistent with an adrenocortical adenoma secreting estradiol and testosterone as the cause of the patient's heterosexual precocious puberty.

  2. 术中心理护理对男性乳腺发育症患者的影响%Effects of Intraoperative Psychological Care for Gynecornastia Patients

    陈迎霞; 梁伟中; 巩传红


    目的 研究分析术中心理护理对男性乳腺发育症手术患者心理状态的影响.方法 对30例接受手术的男性乳腺发育症患者在手术中实施心理护理,告知他们关于乳腺切除手术的相关知识,观察、分析及处理术中负性心理反应.在局部麻醉下进行手术时,手术全过程播放音乐,降低受术者身体不适感,建立良好的心理适应能力,使整个手术过程在轻松和谐的气氛中进行.结果 术中心理护理可改善负性心理事件,可减轻患者的焦虑,保持术中血压与心率的平稳,保证了手术的安全性.结论 术中心理护理可以提高护理质量,增加患者战胜疾病的信心,从而更好地配合手术,促进术后康复.%Objective To investigate and study the effects of psychological care for gynecomastia patients under surgical operation in operating room. Methods 30 gynecornastia patients under operation in operating room received psychological care through telling them relative knowledge about operation. Observe, analyze and deal with the adverse psychological reaction. Patients were calmed by listening to the music and adapted to the operation in good psychological and physical condition. So the operation course was very relaxing. Results Psychological care under operation can relieve gynecomastia patient' s adverse psychological reaction. The method can ease the gynecomastia patients' anxiety, help to maintain blood pressure and heart rate stability, and improve the surgical safety. Conclusion Psychological care can increase the nursing quality, fortify their confidence in beating the disease,let them actively cooperate with the surgery and promote the patients recovery.

  3. Mediastinal mixed germ cell tumor in an infertile male with Klinefelter syndrome:A case report and literature review

    Dinesh Pradhan


    Full Text Available Klinefelter syndrome (KS is a well-documented abnormality of the sex chromosome, with an incidence of 1 in 600 newborn males. It is characterized by a 47, XXY or a mosaic karyotype, hypergonadotrophic hypogonadism, infertility, reduced body hair, gynecomastia, and tall stature. Different neoplasms such as breast, testicular, and lymphoreticular malignancies may occur in 1% to2% of the cases with KS. Herein we describe a case of mediastinal mixed germ cell tumor (GCT in a 40-year-old male with KS. Interestingly, this case also had mitral valve prolapse, and an incidental papillary microcarcinoma of the thyroid gland. In view of the presence of pulmonary nodules, antemortem differential diagnoses considered were mycobacterial infection, lymphoma, thymic carcinoma, and a primary/metastatic neoplasm of the lung. As GCT was not considered, the serum markers of a GCT were not performed. The diagnosis of this rare mediastinal mixed GCT with KS was made at autopsy.

  4. Klinefelter's syndrome in azoospermic infertile males of Vidarbha region, Central India

    Gajanan L. Maske


    Results: Three subjects had a chromosomal count of 47 in all the metaphase studied. The additional chromosome was closely matching with the X chromosome. Hence the karyotype showed numerical aberration with an extra and lsquo;X' chromosome i. e. 47, XXY suggestive of Klinefelter's syndrome. This was confirmed by G-banding. All of the three subjects had bilateral testicular atrophy and one had typical features of Klinefelter's syndrome except gynecomastia. Conclusions: On cytogenetic analysis of 30 azoospermic infertile subjects, chromosomal abnormality of 47, XXY (Klinefelter's syndrome was found in 3 subjects. The total percentage of Klinefelter's syndrome in present study comes to 10%. [Int J Res Med Sci 2016; 4(4.000: 1045-1050

  5. Pseudomembranous trigonitis in a male with Klinefelter syndrome: a case report and evidence of a hormonal etiology.

    Lian, Derrick W Q; Li, Fay X; Ong, Caroline C P; Kuick, C H; Chang, Kenneth T E


    Klinefelter syndrome is a clinical syndrome with a distinct 47, XXY karyotype. Patients are characterized by a tall eunuchoid stature, small testes, hypergonotrophic hypogonadism, gynecomastia, learning difficulties and infertility. These patients have also been found to have raised estrogen levels. We report a 16 year old boy with Klinefelter syndrome presenting to our institution with gross hematuria. Cystoscopy and biopsy revealed the diagnosis of pseudomembranous trigonitis. Immunohistochemical stains showed an increase in estrogen and progesterone receptors in the trigone area but not in the rest of the bladder. In view of the patient's mildly raised estrogen levels and the histological findings, we postulate that estrogen is the driver of the development of pseudomembranous trigonitis. This is the first reported case of pseudomembranous trigonitis seen in association with Klinefelter syndrome, and also the first case of pseudomembranous trigonitis occurring within the male adolescent age group.

  6. Antipsychotic-induced Hyperprolactinemia

    Suheyla Dogan Bulut


    Full Text Available Prolactin provides the growth of the mammary gland during pregnancy and synthesis and preparation of breast milk for lactation. Antipsychotics and antidepressants that are frequently used in psychiatry, cause hyperprolactinemia. The prevalent opinion is that especially typical antipsychotics increase prolactin levels primarily by blocking D2 receptors in the anterior pituitary. The effects of atypical antipsychotics on hyperprolactinemia vary. Hyperprolactinemia causes galactorrhea, gynecomastia, sexual dysfunction, infertility, acne, hirsutism in women, weight gain, obesity and mood changes in addition to menstrual irregularities such as oligomenorrhea, polymenorrhea and amenorrhea. In the long term, hyperprolactinemia may cause reduction in bone density and osteoporosis. Hyperprolactinemia as a side effect of antipsychotics drugs and its treatment will be reviewed in this article. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2015; 7(2: 109-124

  7. Feminizing adrenal tumors: Our experience about three cases

    Chentli Farida


    Full Text Available Feminizing adrenal tumors (FATs are very rare as they account for less than 2% of all the adrenal neoplasms. Their prognosis is deemed to be very poor. We aimed to present a mono centre (adult and pediatric experience over a long period of time (January 1980 to Jun 2012. During the study period, we observed only three cases in men aged 22 (2 cases and 45 (1 case. They all consulted for a painful gynecomastia, decreased libido and impotency. Estradiol was high in two cases at presentation, and after a relapsing tumor in the third one. All had big adrenal tumors (5.9, 6, and 17 cm, and a mixed secretion composed by high estradiol and cortisol. The pathological study argued for malignancy in two cases. But, only one had diffuse metastasis and died 4 years after diagnosis; the others diagnosed one and three years ago are still alive without any metastasis or relapsing.

  8. Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)



    The gene for this syndrome of X-linked mental retardation with gynecomastia, obesity, speech difficulties, tapering fingers and small feet was mapped between Xp21.1 and Xq22. Linkage to DXS255 at Xp11 was firmly established, with no recombination. Subsequent characterization of numerous microsatellite markers and development of the background genetic map in this region of the X chromosome has enabled significant reduction to the localization of the gene for WTS in the one family so far reported. The new linkage data were obtained as described previously and are presented in Table I. The closest flanking markers are DXS426 at Xp11.3 and DXS990 at Xq21.3. The regional localization is significantly reduced from the previous interval of 66 cM to an interval of 25 cM. The maximum two-point lod score is now 6.07 at AR. 6 refs., 1 tab.

  9. Imaging Spectrums of the Male Breast Diseases: A Pictorial Essay

    Kim, Hye Jeong; Choi, Seon Hyeong; Ahn, Hye Kyung; Chung, Soo Young [Dept. of Radiology, Kangnam Scred Heart Hospital, Hallym University College of Medicine, Seoul (Korea, Republic of); Yang Ik [Dept. of Radiology, Kangbuk Samsung Hospital, Sungkyunkwan University College of Medicine, Seoul (Korea, Republic of); Jung, Ah young [Dept. of Pathology, Kangnam Scred Heart Hospital, Hallym University College of Medicine, Seoul (Korea, Republic of)


    Most described male breast lesions, such as gynecomastia, are benign. The overall incidence of male breast cancer is less than 3%. Like women, common presentations of male breast diseases are palpable lumps or tenderness. Physical examination, mammography and ultrasound are generally used for work-up of breast diseases in both women and men. However, men do not undergo screening mammograms; all male patients are examined in symptomatic cases only. Therefore, all male breast examinations are diagnostic, whereas the majority of the examinations for women are for screening purpose. The differentiation between benign and malignant breast lesions is important, especially for men, because the reported prognosis of male breast cancer is poor due to delayed diagnosis. In this article, we review the spectrum of male breast diseases, from benign to malignant, and illustrate their ultrasonographic and mammographic imaging features.

  10. Safety and efficacy of growth hormone therapy in childhood.

    Bowlby, Deborah A; Rapaport, Robert


    Growth hormone (GH) has been used for more than 40 years. GH improves height velocity in many conditions associated with impaired growth and corrects metabolic deficits attributable to GH deficiency (GHD). Many studies and surveillance programs exist to collect efficacy and safety data. GH has been demonstrated to have a relatively wide safety margin. Reported side effects, including pseudotumor cerebri, edema, slipped capital femoral epiphysis (SCFE), worsening of scoliosis, gynecomastia, and hyperglycemia require careful monitoring. Currently, there are no data suggesting that GH therapy increases the risk of developing de novo, recurrent, or secondary malignancies. Patients who have a high intrinsic risk factor for the development of an adverse event need more vigilant surveillance.

  11. Androgen deprivation therapy-associated vasomotor symptoms

    Jason M Jones; Manish Kohli; Charles L Loprinzi


    Androgen deprivation therapy (ADT) is widely used as standard therapy in the treatment of locally advanced and metastatic prostate cancer.While efficacious,ADT is associated with multiple side effects,including decreased libido,erectile dysfunction,diabetes,loss of muscle tone and altered body composition,osteoporosis,lipid changes,memory loss,gynecomastia and hot flashes.The breadth of literature for the treatment of hot flashes is much smaller in men than that in women.While hormonal therapy of hot flashes has been shown to be effective,multiple non-hormonal medications and treatment methods have also been developed.This article reviews current options for the treatment of hot flashes in patients taking ADT.

  12. Antiandrogen monotherapy

    Kolvenbag, G J; Iversen, P; Newling, D W


    Nonsteroidal antiandrogens are generally used in conjunction with castration as combined androgen blockade. However, the changing profile of patients with prostate cancer has made monotherapy with a nonsteroidal antiandrogen an attractive alternative therapeutic approach, offering potential quality......-of-life benefits (sexual interest and physical capacity), with preliminary data suggesting that the risk of osteoporosis may also be reduced by bicalutamide 150-mg monotherapy compared with castration. In general, bicalutamide is well tolerated, with a predictable adverse-effect profile. Breast pain (40......%) and gynecomastia (49%) are the most common adverse events seen during monotherapy with this drug. In summary, the availability of bicalutamide 150-mg monotherapy broadens treatment options for men with locally advanced prostate cancer, offering a viable and attractive alternative to castration in this patient...

  13. Bilateral breast cancer in a male patient with hepatocellular carcinoma. A case report.

    Rubino, Arianna; Fissi, Susanna; Secreto, Giorgio


    Male breast cancer accounts for about 1% of all breast cancers and bilateral breast cancer in men is therefore a rare event. Data in literature indicate that approximately 20% of these tumours are due to a probable alteration in the oestrogen metabolism. Hepatocellular carcinoma (HCC) on the other hand, is a much more frequent tumour and in 70-80% of cases is associated with cirrhosis. The proven concomitance of cirrhosis and gynecomastia in HCC or previous intake of oestrogen in breast cancer, would indicate possible involvement of the hormonal metabolism in the appearance of the two neoplastic forms. To our knowledge a case with these two malignant diseases in the same male patient is an exceptional event, rarely reported in literature. The fact that the breast cancer was bilateral in a male patient, the diverse histogenesis of the two breast cancers and the association with HCC in cirrhosis, led us to investigate into any common eziopathogenetic elements.

  14. Breast Cancer Suspicion in a Transgender Male-to-Female Patient on Hormone Replacement Therapy Presenting with Right Breast Mass: Breast Cancer Risk Assessment and Presentation of a Rare Lesion

    Krystina Tongson


    Full Text Available There has been an increasing use of hormonal therapy among male-to-female (MtF transgender individuals. This long-term hormone replacement therapy (HRT renders MtF individuals a unique patient subgroup in terms of breast cancer risk. This case describes a MtF transgender who presented with a breast lesion concerning for malignancy following hormonal replacement therapy. The patient additionally had a strong family history of breast cancer. Final pathology revealed lobular hyperplasia in the setting of gynecomastia and pseudoangiomatous stromal hyperplasia (PASH. Both pathology findings are rare in biological females, let alone in the setting of hormone replacement therapy in a MtF individual. While the number of reported cases of suspicious breast lesions in this population remains scarce, it presents both a diagnostic and therapeutic challenge due to the nature of the treatment course and the lack of research in this recently growing subgroup of patients.

  15. Gynaecomastia in two men on stable antiretroviral therapy who commenced treatment for tuberculosis.

    Kratz, Jeremy D; El-Shazly, Ahmad Y; Mambuque, Santos G; Demetria, Elpidio; Veldkamp, Peter; Anderson, Timothy S


    Gynaecomastia is a common clinical presentation that varies from benign presentations in stages of human development to hormonal pathology, mainly due to hepatic dysfunction, malignancy, and adverse pharmacologic effects. We describe the development of significant bilateral gynaecomastia after starting treatment for pulmonary tuberculosis (TB) in two males with WHO stage III Human Immunodeficiency Virus (HIV) infection on stable antiretroviral regimens. Emerging reports suggest that distinct hepatic impairment in efavirenz metabolism modulates oestrogenic activity, which may be potentiated by anti-tuberculosis therapy. Clinical application includes early recognition of efavirenz-induced gynaecomastia, especially after commencing tuberculosis treatment. To avoid decreased adherence resulting from the distressing side effect of gynecomastia, transition to an alternative ART regimen over the course of tuberculosis treatment should be considered.

  16. Review of cases of patient risk associated with ginseng abuse and misuse

    Doo Jin Paik


    Full Text Available Ginseng has long been used as a functional food or therapeutic supplement and it is empirically known to be safe and nontoxic. During recent decades, a number of in vitro and in vivo experiments, as well as human studies have been conducted to prove the safety of various types of ginseng samples and their components. Clinical trials, case reports, and in vitro and in vivo research articles addressing the safety, toxicity, and other adverse events of ginseng application were selected and reviewed. Patient risks associated with ginseng abuse and misuse such as affective disorder, allergy, cardiovascular and renal toxicity, genital organ bleeding, gynecomastia, hepatotoxicity, hypertension, reproductive toxicity, and anticoagulant-ginseng interaction were reviewed and summarized. There are some cases of patient risk associated with ginseng abuse and misuse depending on patients' conditions although further investigation in more cases is required to clarify these issues.




    Full Text Available Alcohol has wide impact (affect on male reproductive function like impotence, loss of sexual interest, gynecomastia and on male infertility. Alcohol can adversely affect the leydig cells which secretes the male hormone testosterone, Several studied have been conducted to evaluate the effect of alcohol in men and results shows reduced testosterone levels in the blood. Alcohol has dual effect on the hypothalamic pituitary – gonadal axis and blocking the release of LH - releasing hormone. 110 subjects were inc luded in the present study amongst whom 25 were non - alcoholic, 53 with low alcoholic and 32 with high alcoholic intake. Our study shows that ethanol exhibits alteration in their spermatozoa concentration, abnormal motility and morphology.

  18. A Rare Presentation of the Klinefelter's Syndrome.

    Hezarkhani, Sharabeh; Moujerloo, Mohammad; Sedighi, Sima; Taheri, Negar Sadat


    A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and siblings. His laboratory tests showed high levels of FSH and normal levels of LH and testosterone. With regards to all these findings, we suspected that there might be an occult Klinefelter's syndrome. So, we made his karyotype that showed a 47XXY pattern. Because there are only a few number of cases that have occult Klinefelter's syndrome in the basis of chronic renal failure, we decided to report this case.

  19. Spectrum of the Breast Lesions With Increased 18F-FDG Uptake on PET/CT

    Dong, Aisheng; Wang, Yang; Lu, Jianping; Zuo, Changjing


    Abstract Interpretation of 18F-FDG PET/CT studies in breast is challenging owing to nonspecific FDG uptake in various benign and malignant conditions. Benign conditions include breast changes in pregnancy and lactation, gynecomastia, mastitis, fat necrosis, fibroadenoma, intraductal papilloma, and atypical ductal hyperplasia. Among malignancies, invasive ductal carcinoma and invasive lobular carcinoma are common histological types of breast carcinoma. Rarely, other unusual histological types of breast carcinomas (eg, intraductal papillary carcinoma, invasive micropapillary carcinoma, medullary carcinoma, mucinous carcinoma, and metaplastic carcinoma), lymphoma, and metastasis can be the causes. Knowledge of a wide spectrum of hypermetabolic breast lesions on FDG PET/CT is essential in accurate reading of FDG PET/CT. The purpose of this atlas article is to demonstrate features of various breast lesions encountered at our institution, both benign and malignant, which can result in hypermetabolism on FDG PET/CT imaging. PMID:26975010

  20. 45,X/46,XY mosaicism. A clinical review and report of ten cases.

    Knudtzon, J; Aarskog, D


    The clinical findings in ten patients with 45,X/46,XY mosaicism are described. Three girls presented with short stature, delayed sexual development or Turner-like stigmata without signs of virilization. Bilaterally gonadoblastomas were found in two girls, and the gonads in one of these girls also contained mucinous cystadenomas. The remaining seven patients were raised as boys. Three had scrotal hypospadias and mixed gonadal dysgenesis. Three presented as male pseudohermaphrodites with scrotal or penoscrotal hypospadias and bilateral testes. One male was diagnosed in adulthood because of gynecomastia, but had normal male external genitals. The clinical findings illustrate the wide spectrum of phenotypic manifestations of 45,X/46,XY mosaicism, ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, male pseudohermaphroditism to almost phenotypic normal males.

  1. The effect of atypical antipsychotic agents on prolactin levels in children and adolescents.

    Pappagallo, Mia; Silva, Raul


    This report is a review of the available literature on the effect of atypical antipsychotic agents on prolactin in children and adolescents. Fourteen reports are reviewed. Most reports (79%) have included adolescents. Three reports (21%) consisted of children only, while 7 reports (50%) included only adolescents. A total of 4 reports (29%) included both children and adolescents. The total number of subjects listed in all the reports is 276, while only 49 of the individuals on atypical neuroleptics had prolactin elevations clearly identified as outside of the normal range. The details of the reports are provided by individual atypical antipsychotic agent. Clinical implications, such as the potential impact of hyperprolactinemia on bone density, osteoporosis, gynecomastia, galactorrhea, and weight gain, are presented. Discussion of pertinent medical differential and treatment options are also reported.

  2. Drug-induced sexual dysfunction.

    Aldridge, S A


    Commonly used drugs that may cause sexual dysfunction are reviewed. The anatomy and physiology of the normal sexual response are reviewed. The influence of drugs on neurogenic, hormonal, and vascular mechanisms may result in diminished libido, impotence, ejaculatory and orgasmic difficulties, inhibited vaginal lubrication, menstrual irregularities, and gynecomastia in men or painful breast enlargement in women. Parasympatholytic agents, which interfere with cholinergic transmission, may affect erectile potency, while adrenergic inhibiting agents may interfere with ejaculatory control. Central nervous system depressants or sedating drugs, drugs producing hyperprolactinemia, and antiandrogenic drugs also may affect the normal sexual response. Drugs such as antihypertensive and antipsychotic agents may induce sexual dysfunction that can result in patient noncompliance. Usually, drug-induced side effects are reversible with discontinuation of the offending agent.

  3. Switch to quetiapine in antipsychotic agent-related hyperprolactinemia.

    Keller, R; Mongini, F


    Novel antipsychotics (clozapine, risperidone, olanzapine, quetiapine) are effective in treating psychotic symptoms, also in neurological disease. Hyperprolactinemia is a side effect related to antipsychotics that can cause galactorrhea, gynecomastia, amenorrhea, anovulation, impaired spermatogenesis, decreased libido and sexual arousal, impotence, and anorgasmia, consequent to removal of tonic dopaminergic inhibition of prolactin secretion via hypothalamic dopaminergic receptor blockade in the tuberoinfundibolar tract. Hyperprolactinemia occurs more frequently during treatment with risperidone and olanzapine compared with clozapine and quetiapine. The therapeutic algorithm to antipsychotic-relatedhyperprolactinemia is the following: reduction in antipsychotic dose, addition of cabergoline, bromocriptine, amantadine, and/or switch to another antipsychotic. We propose switching to quetiapine in symptomatic hyperprolactinemia related to antipsychotics and describe five cases.

  4. Treating symptomatic hyperprolactinemia in women with schizophrenia: presentation of the ongoing DAAMSEL clinical trial (Dopamine partial Agonist, Aripiprazole, for the Management of Symptomatic ELevated prolactin).

    Kelly, Deanna L; Wehring, Heidi J; Earl, Amber K; Sullivan, Kelli M; Dickerson, Faith B; Feldman, Stephanie; McMahon, Robert P; Buchanan, Robert W; Warfel, Dale; Keller, William R; Fischer, Bernard A; Shim, Joo-Cheol


    Prolactin elevations occur in people treated with antipsychotic medications and are often much higher in women than in men. Hyperprolactinemia is known to cause amenorrhea, oligomenorrhea, galactorrhea and gynecomastia in females and is also associated with sexual dysfunction and bone loss. These side effects increase risk of antipsychotic nonadherence and suicide and pose significant problems in the long term management of women with schizophrenia. In this manuscript, we review the literature on prolactin; its physiology, plasma levels, side effects and strategies for treatment. We also present the rationale and protocol for an ongoing clinical trial to treat symptomatic hyperprolactinemia in premenopausal women with schizophrenia. More attention and focus are needed to address these significant side effects and help the field better personalize the treatment of women with schizophrenia.

  5. Amantadine in the treatment of neuroendocrine side effects of neuroleptics.

    Correa, N; Opler, L A; Kay, S R; Birmaher, B


    An open-label reversal drug study was undertaken on 10 neuroleptic-treated schizophrenic inpatients to assess the impact of amantadine hydrochloride on presumed prolactin-mediated neuroendocrine side effects. Measures were conducted across 7 weeks, including a 2-week neuroleptic baseline, a 3-week neuroleptic-plus-amantadine phase, and a 2-week return to the baseline regimen. Significant reduction with amantadine was observed on all six indices of neuroendocrine side effects: serum prolactin levels, body weight, gynecomastia/galactorrhea, breast tenderness, decreased libido, and amenorrhea. Improvement on these parameters was noted for as many as nine or all 10 patients, while in no cases was there worsening. In terms of motor and clinical effects, significant diminution of extrapyramidal and psycho-pathological symptoms was also achieved during this phase. The results suggested that amantadine may be beneficial for the treatment of neuro-endocrine side effects of antipsychotic medication owing to its ability to reverse neuroleptic-induced hyperprolactinemia.

  6. Hyperprolactinemia with antipsychotic drugs in children and adolescents.

    Rosenbloom, Arlan L


    There is increasing use of antipsychotic drugs in pediatric and psychiatry practice for a wide range of behavioral and affective disorders. These drugs have prominent side effects of interest to pediatric endocrinologists, including weight gain and associated metabolic risk factors and hyperprolactinemia. The drugs block dopamine action, thus disinhibiting prolactin secretion. Hyperprolactinemia is especially prominent with first-generation antipsychotics such as haloperidol and the second-generation drugs, most commonly risperidone, with some patients developing gynecomastia or galactorrhea or, as a result of prolactin inhibition of gonadotropin releasing hormone from the hypothalamus, amenorrhea. With concern about the long-term effects of antipsychotics on bone mass and pituitary tumor formation, it is prudent to monitor serum prolactin levels in antipsychotic drug-treated pediatric patients and consider treatment with an agent less likely to induce hyperprolactinemia.

  7. Hyperprolactinemia with Antipsychotic Drugs in Children and Adolescents

    Arlan L. Rosenbloom


    Full Text Available There is increasing use of antipsychotic drugs in pediatric and psychiatry practice for a wide range of behavioral and affective disorders. These drugs have prominent side effects of interest to pediatric endocrinologists, including weight gain and associated metabolic risk factors and hyperprolactinemia. The drugs block dopamine action, thus disinhibiting prolactin secretion. Hyperprolactinemia is especially prominent with first-generation antipsychotics such as haloperidol and the second-generation drugs, most commonly risperidone, with some patients developing gynecomastia or galactorrhea or, as a result of prolactin inhibition of gonadotropin releasing hormone from the hypothalamus, amenorrhea. With concern about the long-term effects of antipsychotics on bone mass and pituitary tumor formation, it is prudent to monitor serum prolactin levels in antipsychotic drug-treated pediatric patients and consider treatment with an agent less likely to induce hyperprolactinemia.

  8. Hyperprolactinemia with Antipsychotic Drugs in Children and Adolescents

    Rosenbloom ArlanL


    Full Text Available There is increasing use of antipsychotic drugs in pediatric and psychiatry practice for a wide range of behavioral and affective disorders. These drugs have prominent side effects of interest to pediatric endocrinologists, including weight gain and associated metabolic risk factors and hyperprolactinemia. The drugs block dopamine action, thus disinhibiting prolactin secretion. Hyperprolactinemia is especially prominent with first-generation antipsychotics such as haloperidol and the second-generation drugs, most commonly risperidone, with some patients developing gynecomastia or galactorrhea or, as a result of prolactin inhibition of gonadotropin releasing hormone from the hypothalamus, amenorrhea. With concern about the long-term effects of antipsychotics on bone mass and pituitary tumor formation, it is prudent to monitor serum prolactin levels in antipsychotic drug-treated pediatric patients and consider treatment with an agent less likely to induce hyperprolactinemia.

  9. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.

    Valera Yepes, Rocío; Virgili Casas, Maria; Povedano Panades, Monica; Guerrero Gual, Mireia; Villabona Artero, Carles


    Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene.

  10. [Faster, higher, stronger: knowledge about old and new doping substances].

    Pieters, Toine; de Hon, Olivier


    Physicians should possess specific diagnostic and pharmacotherapeutic skills in order to recognize symptoms associated with doping use. It is important to be on the alert in athletes and fitness enthusiasts for physical and psychological changes due to use of anabolic steroids such as acne, stretch marks, gynecomastia, signs of acromegaly, irascibility and lethargy. Stimulants such as amphetamines, ephedrine and cocaine lead to fat loss and increased alertness; their main side effects are cardiac problems, behavioural changes and addiction. In addition to anabolic steroids and stimulants, erythropoietin, growth hormone, diuretics and glucocorticoids are regularly used to improve sport performance. In cycling, a biological passport will be used in an attempt to detect doping use. In future, the Olympic motto 'citius, altius, fortius' (faster, higher, stronger) will have ground-breaking consequences for the performance and health of top athletes.

  11. Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency.

    Doubi, Sana; Amrani, Zoubida; Ouahabi, Hanan El; Boujraf, Saïd; Ajdi, Farida


    Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin, and diagnosed with this syndrome, who had a small height in relation to a growth hormone (GH) deficiency and a history of absence seizures (generalized myoclonic epilepsy). The patient's size was Klinefelter syndrome - on the contrary, the presence of any associated sign (brain maturation, delay in puberty, aggressiveness) should encourage one to request a karyotype for the diagnosis and appropriate care of any case of KS that can be associated with GH deficiency, or which is in a variant form (isochromosome Xq, 49,XXXXY).

  12. Anthropometric and hormonal risk factors for male breast cancer

    Brinton, Louise A; Cook, Michael B; McCormack, Valerie


    .18; 95% CI = 1.01 to 1.38), and body mass index (BMI; OR = 1.30; 95% CI = 1.12 to 1.51), with evidence that recent rather than distant BMI was the strongest predictor. Klinefelter syndrome (OR = 24.7; 95% CI = 8.94 to 68.4) and gynecomastia (OR = 9.78; 95% CI = 7.52 to 12.7) were also statistically.......99). Although age at onset of puberty and histories of infertility were unrelated to risk, never having had children was statistically significantly related (OR = 1.29; 95% CI = 1.01 to 1.66). Among individuals diagnosed at older ages, a history of fractures was statistically significantly related (OR = 1...

  13. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Néstor Pacenza


    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  14. Endocrine-Manifestations of Cirrhosis and Liver Disease

    M Khalili


    Full Text Available The liver is involved in the synthesis and metabolism of many kinds of hormones, various abnormalities hormone levels are found in advanced liver disease. For example the liver is, extremely sensitive to changes in insulin or glucagon levels. The liver is the primary organ of iron storage is frequently involved, diabetes is common in patients with iron overload and may be seen in cirrhosis. Chronic infection with HCV is associated with insulin resistance. Thyroid disease often accompanies chronic hepatitis C infection .Anti thyroid autoantibodies are also found in chronic HCV infection. Nonalcoholic liver disease (NAFLDas a most common cause of chronic liver disease in western world ,as well accompanied by Type 2 diabetes and hyperlipidemia. Hypopituitarism and hypothyroidism also have been in NAFLD.The patients with NAFLD and Hypopituitarism may be susceptible to central obesity, dyslipidemia and insulin resistance leading to disease progression. Hepatic cirrhosis as the end stage of chronic liver disease is also associated with hypogonadism and signs of feminization. The peripheral metabolism of steroids is altered in many of hypogonadism, low testosterone level decreased libido, infertility, reduced secondary sex hair and gynecomastia, reduced spermatogenesis and peritubular fibrosis are found in men with cirrhosis .The normal function of the hypothalamic-pituitary gonadal axis is affected in liver disease. In cirrhotic patients the estrogen/androgen ratio is usually increased, the level of testosterone and dihydroepiandosteron are reduced while the estradiol level are normal or slightly elevated, these alterations are dependent on the severity of the liver disease.Succsesfull orthotropic liver transplantation  leads to improvement of the sex hormone disturbances. The pathogenesis of gynecomastia is due to the loss of equilibrium between estrogen and androgen caused by a feminizing state but it is due to increased estrogen precursor in

  15. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo A.; Martínez, María P.; Aszpis, Sergio


    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  16. Incidence of extrapyramidal symptoms and tardive dyskinesia in schizophrenia: thirty-six-month results from the European schizophrenia outpatient health outcomes study.

    Novick, Diego; Haro, Josep Maria; Bertsch, Jordan; Haddad, Peter M


    The incidence of treatment-emergent extrapyramidal symptoms (EPSs) and tardive dyskinesia (TD) in schizophrenic patients, and the clinical characteristics associated with an increased risk of developing EPSs and TD were examined. Patients (N = 7728) in the 3-year, prospective, observational Schizophrenia Outpatient Health Outcomes study were examined according to baseline antipsychotic drug exposure. At baseline, 4893 patients (63.3%) had no EPS, and 6921 (89.6%) had no TD. Extrapyramidal symptoms and TD were assessed separately during follow-up: frequency and time to appearance from Kaplan-Meier survival curves and factors associated with time to appearance using Cox proportional hazard regression models. The cumulative incidence of EPS ranged from 7.7% (olanzapine) to 32.8% (depot typical drugs). Compared with olanzapine, patients taking depot typical drugs, oral typical drugs, risperidone, and amisulpride had a significantly higher risk of developing EPS. Differences from clozapine were marginally significant. High baseline clinical severity was associated with a significantly higher risk of developing EPS. The incidence of TD ranged from 2.8% (olanzapine) to 11.1% (depot typical agent). Compared with olanzapine, patients taking depot typical agents, oral typical agents, and risperidone had a significantly higher risk of developing TD. Baseline factors associated with a significantly higher risk of developing TD were age, EPS, a higher negative Clinical Global Impression score, and presence of gynecomastia. In summary, patients treated with typical antipsychotic agents (oral and depot) and risperidone had a higher risk of developing EPS and TD than patients treated with olanzapine. Higher baseline clinical severity was associated with EPS development, whereas age, presence of EPS, a higher negative Clinical Global Impression score, and presence of gynecomastia were associated with TD development.

  17. Cutaneous manifestations in patients with chronic renal failure on hemodialysis

    Udayakumar P


    Full Text Available Background: Chronic renal failure (CRF presents with an array of cutaneous manifestations. Newer changes are being described since the advent of hemodialysis, which prolongs the life expectancy, giving time for these changes to manifest. Aim: The aim of this study was to evaluate the prevalence of dermatologic problems among patients with chronic renal failure (CRF undergoing hemodialysis. Methods: One hundred patients with CRF on hemodialysis were examined for cutaneous changes. Results: Eighty-two per cent patients complained of some skin problem. However, on examination, all patients had at least one skin lesion attributable to CRF. The most prevalent finding was xerosis (79%, followed by pallor (60%, pruritus (53% and cutaneous pigmentation (43%. Other cutaneous manifestations included Kyrle′s disease (21%; fungal (30%, bacterial (13% and viral (12% infections; uremic frost (3%; purpura (9%; gynecomastia (1%; and dermatitis (2%. The nail changes included half and half nail (21%, koilonychia (18%, onychomycosis (19%, subungual hyperkeratosis (12%, onycholysis (10%, splinter hemorrhages (5%, Mees′ lines (7%, Muehrcke′s lines (5% and Beau′s lines (2%. Hair changes included sparse body hair (30%, sparse scalp hair (11% and brittle and lusterless hair (16%. Oral changes included macroglossia with teeth markings (35%, xerostomia (31%, ulcerative stomatitis (29%, angular cheilitis (12% and uremic breath (8%. Some rare manifestations of CRF like uremic frost, gynecomastia and pseudo-Kaposi′s sarcoma were also observed. Conclusions: CRF is associated with a complex array of cutaneous manifestations caused either by the disease or by treatment. The commonest are xerosis and pruritus and the early recognition of cutaneous signs can relieve suffering and decrease morbidity.

  18. Further evidence of the clinical, hormonal, and genetic heterogeneity of Klinefelter syndrome: a study of 216 infertile Egyptian patients.

    Abdel-Razic, Moheb M; Abdel-Hamid, Ibrahim A; Elsobky, Ezzat; El-Dahtory, Faeza


    This study aims to provide further insight into the phenotypic heterogeneity of Klinefelter syndrome (KS) by presenting clinical, hormonal, and genetic data from a large series of Egyptian infertile patients with KS. A retrospective case series of KS patients was studied over a period from January 2003 to April 2010. All patients underwent a complete history and physical examination; color duplex examination; semen analysis; measurement of total testosterone (T), follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and prolactin (PRL); and chromosomal typing. Mosaic KS diagnosis was confirmed by fluorescence in situ hybridization. The series included 216 KS patients (198 nonmosaic, 16 mosaic, and 2 KS variants). Typical clinical signs of hypoandrogenism were observed in 86% of patients. Gynecomastia affected 20.8% of the patients. Eunuchoidal body proportions, with arm span exceeding height and lower segment length exceeding upper segment length, were detected in 43.9% and 64.4% of the patients, respectively. In all patients, a reduction in testicular size and azoospermia were detected. Normal levels of T, FSH, LH, E2, and PRL were detected in 44.5%, 3.7%, 3.3%, 93.5%, and 91.2% of patients, respectively. Differences were not significant between patients with classic KS and those with mosaic KS in terms of the frequency of clinical signs of hypoandrogenism, gynecomastia, low T concentrations, or high concentrations of FSH, LH, E2, and PRL (all P > .05). The results of the current study emphasize the heterogeneous clinical, hormonal, and genetic phenotype of infertile KS patients. Our findings support the usefulness of cytogenetic studies in infertile patients showing small testicular size and azoospermia, regardless of the presence of other clinical or endocrine findings.

  19. Tratamiento quirúrgico de la región mamaria masculina prominente Surgical treatment of the prominent mammal region in male

    W. Calderón


    Full Text Available La ginecomastia es la anomalía mamaria más frecuente en el sexo masculino. La pseudoginecomastia es un cuadro que a menudo se confunde con la ginecomastia y consiste en el aumento de tejido graso en la región pectoral. El equipo de Cirugía Plástica del Hospital Militar de Santiago (Chile, por atender una población de jóvenes que realizan el servicio militar obligatorio, ha tenido una gran experiencia en el manejo de esta enfermedad; es por esto que nos planteamos como objetivo de estudio evaluar el manejo de los pacientes operados por esta patología en el Hospital Militar y la Clínica Santa María de Santiago, e intentar ofrecer pautas para el manejo de esta patología de la Cirugía General a nivel nacional. Realizamos un estudio retrospectivo y descriptivo sobre 106 pacientes operados con diagnóstico de ginecomastia o pseudoginecomastia entre Enero de 1987 y Julio de 2005 en las instituciones antes mencionadas. El promedio de edad de los pacientes incluidos en el estudio fue de 24 años (rango: 15 a 50 años: 32% por ginecomastia pura, 29,4% por pseudoginecomastia y 38,8% por ambas. Todos fueron grado I y IIa de la clasificación de Simon. En el 50% de los casos se realizó adenectomía más lipoaspiración; adenectomía sola en 26,4% y lipoaspiración exclusiva en 23,6%. Casos complicados, 3,8% con hematomas y equimosis. La ginecomastia es una enfermedad frecuente en la adolescencia que además de provocar alteraciones estéticas, provoca alteraciones psicológicas en el paciente. La liposucción se consagra como una técnica quirúrgica importante para el tratamiento quirúrgico de esta anormalidad.Gynecomastia is common among men. Pseudogynecomastia, caused by an increased subcutaneous fat in the mammary area, can be confused with gynecomastia. We report our experience with the surgical treatment of both making a review of medical records of 106 patients, aged 15 to 50 years, operated at the Plastic Surgery Unit of the Military

  20. Differential expression of growth factor receptors and membrane-bound tumor markers for imaging in male and female breast cancer.

    Jeroen F Vermeulen

    Full Text Available INTRODUCTION: Male breast cancer accounts for 0.5-1% of all breast cancers and is generally diagnosed at higher stage than female breast cancers and therefore might benefit from earlier detection and targeted therapy. Except for HER2 and EGFR, little is known about expression of growth factor receptors in male breast cancer. We therefore investigated expression profiles of growth factor receptors and membrane-bound tumor markers in male breast cancer and gynecomastia, in comparison with female breast cancer. METHODS: Tissue microarrays containing 133 male breast cancer and 32 gynecomastia cases were stained by immunohistochemistry for a panel of membrane-bound targets and compared with data on 266 female breast cancers. RESULTS: Growth factor receptors were variably expressed in 4.5% (MET up to 38.5% (IGF1-R of male breast cancers. Compared to female breast cancer, IGF1-R and carbonic anhydrase 12 (CAXII were more frequently and CD44v6, MET and FGFR2 less frequently expressed in male breast cancer. Expression of EGFR, HER2, CAIX, and GLUT1 was not significantly different between male and female breast cancer. Further, 48.1% of male breast cancers expressed at least one and 18.0% expressed multiple growth factor receptors. Since individual membrane receptors are expressed in only half of male breast cancers, a panel of membrane markers will be required for molecular imaging strategies to reach sensitivity. A potential panel of markers for molecular imaging, consisting of EGFR, IGF1-R, FGFR2, CD44v6, CAXII, GLUT1, and CD44v6 was positive in 77% of male breast cancers, comparable to female breast cancers. CONCLUSIONS: Expression patterns of growth factor receptors and hypoxia membrane proteins in male breast cancer are different from female breast cancer. For molecular imaging strategies, a putative panel consisting of markers for EGFR, IGF1-R, FGFR2, GLUT1, CAXII, CD44v6 was positive in 77% of cases and might be considered for development of

  1. [Importance of Klinefelter syndrome in the pathogenesis of male infertility].

    Pralea, Carmen-Elena; Mihalache, Gr


    Klinefelter syndrome, the most knowning hipergonadotrophic hypogonadism, is associated typically with two X chromosomes and one Y chromosome (47,XXY. The signs and symptoms of these conditions typically become more severe as the number of X chromosomes increases. To preveal the role of Klinefelter syndrome in pathogenesis of male infertility. The study included 20 men hospitalized and treated in the Endocrinology Clinic, Iaşi. The age of patients was between 19 years and 44 years. They made next investigations: clinical, biological and semen examination, testis echography and biopsy, test Elisa, Barr's test, psychological evaluation and psycho-analysis. Diagnosis of Klinefelter syndrome is made by examining chromosomes for evidence of more than one X chromosome present in a male. All patients are characterized by chromosomal abnormalities, small penis, small firm testicles with hyalinization and fibrosis of the seminiferous tubules, underdevelopment of secondary sexual characteristics, abnormal body proportions (long legs, short trunk), sexual problems, azoospermia, infertility and increased urinary excretion of gonadotropin. 14 cases had gynecomastia and 2 cases presented anti-sperm antibodies. The following test results may be found: karyotyping chromosome shows 47 XXY; positive test Barr; semen count-low; serum testosterone- low; serum luteinizing hormone (LH)--high; serum follicle stimulating hormone (FSH)--high; serum estradiol levels (a type of estrogen)-high, testicle size measurement < 10 cc. Klinefelter syndrome is a chromosomal condition that affects male sexual development, preventing the testicles from functioning normally and reducing the levels of testosterone. Low Testosterone can lead to breast development (gynecomastia), decreased libido, incomplete masculinization with female body hair distribution (sparse facial, armpit, and pubic hair) and an inability to father children (infertility). The decreased testosterone also causes an increase in two

  2. CHARGE Association

    Semanti Chakraborty


    Full Text Available We present here a case of 17-year-old boy from Kolkata presenting with obesity, bilateral gynecomastia, mental retardation, and hypogonadotrophic hypogonadism. The patient weighed 70 kg and was of 153 cm height. Facial asymmetry (unilateral facial palsy, gynecomastia, decreased pubic and axillary hair, small penis, decreased right testicular volume, non-palpable left testis, and right-sided congenital inguinal hernia was present. The patient also had disc coloboma, convergent squint, microcornea, microphthalmia, pseudohypertelorism, low set ears, short neck, and choanalatresia. He had h/o VSD repaired with patch. Laboratory examination revealed haemoglobin 9.9 mg/dl, urea 24 mg/dl, creatinine 0.68 mg/dl. IGF1 77.80 ng/ml (decreased for age, GH <0.05 ng/ml, testosterone 0.25 ng/ml, FSH-0.95 ΅IU/ml, LH 0.60 ΅IU/ml. ACTH, 8:00 A.M cortisol, FT3, FT4, TSH, estradiol, DHEA-S, lipid profile, and LFT was within normal limits. Prolactin was elevated at 38.50 ng/ml. The patient′s karyotype was 46XY. Echocardiography revealed ventricularseptal defect closed with patch, grade 1 aortic regurgitation, and ejection fraction 67%. Ultrasound testis showed small right testis within scrotal sac and undescended left testis within left inguinal canal. CT scan paranasal sinuses revealed choanalatresia and deviation of nasal septum to the right. Sonomammography revealed bilateral proliferation of fibroglandular elements predominantly in subareoalar region of breasts. MRI of brain and pituitary region revealed markedly atrophic pituitary gland parenchyma with preserved infundibulum and hypothalamus and widened suprasellar cistern. The CHARGE association is an increasingly recognized non-random pattern of congenital anomalies comprising of coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or deafness. [1] These anomalies have a higher probability of occurring together. In this report, we have

  3. Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome.

    Wosnitzer, Matthew S; Paduch, Darius A


    47, XXY or Klinefelter syndrome (KS), the most common chromosomal aberration in males, is characterized by either absolute or relative hypogonadism with frequent decline in serum testosterone (T) following the onset of puberty. Decreased T levels are the result of testicular dysfunction with decrease in size of Leydig cells, and loss of germs and Sertoli cells leading to tubular hyalinization. Increase in estradiol results from over-expression of aromatase CYP19. Deficient androgen production and observed varied response of end-organs to T leads to delayed progression of puberty with decreased facial/body hair, poor muscle development, osteoporosis, and gynecomastia. It is possible that hypogonadism and excessive estradiol production contribute to emotional and social immaturity, and specific learning disabilities in KS. Based on the authors' experience and literature review, early fertility preservation and hormonal supplementation may normalize pubertal development, prevent metabolic sequelae of hypogonadism, and have a positive effect on academic and social development. No randomized clinical trials are available studying the effects of T supplementation on reproductive or cognitive issues in KS. Aggressive T supplementation (topical gel) and selective use of aromatase inhibitors may be considered at the onset of puberty with careful follow-up and titration to reach age-specific high-normal physiologic serum values. The decision to institute hormonal therapy should be part of a multidisciplinary approach including physical, speech, behavioral, and occupational therapy. © 2013 Wiley Periodicals, Inc.

  4. Review of HIV-Related Cytopathology

    Tee U. Lang


    Full Text Available Exfoliative and aspiration cytologies play a major role in the management of patients with human immunodeficiency virus infection. Common cytology samples include cervicovaginal and anal Papanicolaou tests, fine needle aspirations, respiratory specimens, body fluids, Tzanck preparations, and touch preparations from brain specimens. While the cytopathologists need to be aware of specific infections and neoplasms likely to be encountered in this setting, they should be aware of the current shift in the pattern of human immunodeficiency virus-related diseases, as human immunodeficiency virus patients are living longer with highly active antiretroviral therapy and suffering fewer opportunistic infections with better antimicrobial prophylaxis. There is a rise in nonhuman immunodeficiency virus-defining cancers (e.g., anal cancer, Hodgkin's lymphoma and entities (e.g., gynecomastia from drug-related side effects. Given that fine needle aspiration is a valuable, noninvasive, and cost-effective tool, it is frequently employed in the evaluation and diagnosis of human immunodeficiency virus-related diseases. Anal Papanicolaou tests are also increasing as a result of enhanced screening of human immunodeficiency virus-positive patients for cancer. This paper covers the broad spectrum of disease entities likely to be encountered with human immunodeficiency virus-related cytopathology.

  5. Evidences of possible side effects of neuroleptic drugs:A systematic review

    Prashant Tiwari; Rajnikant Panik; Arin Bhattacharya; Dheeraj Ahirwar; Anish Chandy


    The premise that chronic neuroleptic treatment may induce decline in some schizophrenic patients has received considerable attention. This effect, typically called super sensitivity psychosis, has been accredited to neuroleptic induced changes in mesolimbic or mesocortical dopaminergic receptors. Both typical and atypical antipsychotics generations of medication tend to block receptors in the brain's dopamine pathways which offers a number of harmful and undesired (adverse) effects including lowered life expectancy, extrapyramidal effects on motor control including akathisia (an inability to sit still), trembling, and muscle weakness weight gain, decrease in brain volume, enlarged breasts e.g. gynecomastia in men and milk discharge in men and women (galactorrhea due to hyperprolactinaemia), lowered white blood cell count (agranulocytosis), involuntary repetitive body movements (tardive dyskinesia), diabetes, and sexual dysfunction. In evaluating the risk of neuroleptic medication, the occurrence of its common side effects and uneasiness connected with these side effects should be determined. However, research has not established that neuroleptics cause the projected effect, and considerations of mechanism have not been alienated from those of causation. The focus of research in this area should be the concern or repudiation of a causal relationship between chronic neuroleptic use and psychotic relapse, even though at hand article would eradicate to researchers to find out a compiled revision on probable side effects of neuroleptic drugs.

  6. [Bariatric and plastic surgery in obese adolescents: an alternative treatment].

    Dubern, Béatrice; Tounian, Patrice


    The increased frequency of extreme forms of obesity in adolescents and the disappointing results of conventional treatments are now leading pediatricians to consider bariatric or cosmetic surgery as the only real long-term effective therapeutic alternative. The two main techniques currently used for bariatric surgery in adolescents are gastric bypass and adjustable gastric banding. Whatever the technique, weight loss is significant with improvement of comorbidities and quality of life. In addition, the complications are identical to those in adults and equally frequent. However, because of the particularities of this age, caution is still required. Adolescence is indeed characterized by specific nutritional needs, but also changes in body image in which surgery could have a negative effect. Currently, all obese teenagers making a request for bariatric surgery should have a comprehensive assessment with global care for at least 6 months. The indication is then discussed on a case-by-case basis by multidisciplinary teams and experts. To date, the type of surgery (gastric banding, gastric sleeve, or bypass) is still widely discussed. Based on experience with adults, we believe that gastric sleeve and bypass should be preferred. In addition, obesity in adolescents almost always involves psychosocial consequences, while somatic complications are rare. Thus, the care of adipo- or gynecomastia, abdominal fat excess, and concealed penis is essential and therefore justifies cosmetic surgery.

  7. Endocrine disruptors, travel-associated illness, and media violence: important health considerations for children and adolescents.

    Pattishall, Amy E; Spector, Nancy D


    This article addresses three important topics that are part of contemporary life for children: endocrine disruptors, hazards of international travel, and the impact of media violence on children and adolescents. Practitioners will learn about phthalates and Bisphenol-A as endocrine disruptors. In published studies, elevated phthalates were associated with an increase in pubertal gynecomastia and premature thelarche. Bisphenol-A was judged by the Food and Drug Administration as having some concern for potential effects on brain, behavior, and prostate gland in fetuses, infants, and young children: hence, the decision to take reasonable steps to reduce exposure of infants. In travel-related diseases, diarrheal disease (primarily Campylobacter and Salmonella), dermatologic conditions (animal bites), systemic febrile illness (malaria and dengue fever), and respiratory illnesses predominate. Children and adolescents spend more than 7 h using media per day. The degree to which media violence can be linked to behavior is not conclusive, but the prevention message for practitioners is important because parents can have an important mitigating effect. Endocrine disruptors, travel-related diseases, and media violence are part of modern day life for our children. Pediatricians need to stay abreast of recent findings and have access to up-to-date resources to assist them in providing contemporary advice and guidance to patients and families.

  8. Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy.

    Belsham, D D; Yee, W C; Greenberg, C R; Wrogemann, K


    Herein we describe a family with X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease), an adult onset neuromuscular disease characterized by slow progression, predominant proximal and bulbar muscle weakness. One frequent association is the appearance of gynecomastia. This disorder was previously shown to be linked to the locus DXYS1 on the proximal long arm of the X chromosome. Recently, a report implicated a mutation at the N-terminus of the androgen receptor gene involving amplification of CAG repeats as the cause of X-linked SBMA. We studied this region of the androgen receptor in a kindred clinically suspected but not confirmed of having X-linked SBMA by the polymerase chain reaction (PCR) followed by Southern analysis and DNA sequencing. The mutated allele was found to have an increased number of 51 CAG repeats confirming the clinical diagnosis of SBMA. Normal individuals revealed 23 repeat numbers within the normal range, while another unrelated X-linked SBMA patient had an enlarged CAG repeat region. The carrier or disease status could be established or confirmed in 12 individuals of this family on the basis of detecting normal and disease alleles reflected by the number of CAG repeats.

  9. Prolactin and macroprolactin levels in psychiatric patients receiving atypical antipsychotics: A preliminary study.

    Park, Young-Min; Lee, Seung-Hwan; Lee, Bun-Hee; Lee, Kyu Young; Lee, Kye-Seong; Kang, Seung-Gul; Lee, Hwa-Young; Kim, Won


    The aims of this study were to clarify whether atypical antipsychotics can elevate serum levels of both macroprolactin and prolactin, and whether the macroprolactin levels differ according to the type of atypical antipsychotic being taken. In total, 245 subjects were enrolled consecutively in 6 hospitals. Serum prolactin and macroprolactin levels were measured at a single time point during maintenance antipsychotic monotherapy. The mean total serum prolactin levels including macroprolactin were 11.91, 20.73, 16.41, 50.83, 12.84, and 59.1ng/mL for patients taking aripiprazole, blonanserin, olanzapine, paliperidone, quetiapine, and risperidone, respectively, while those for macroprolactin were 1.71, 3.86, 3.73, 7.28, 2.77, and 8.0ng/mL. The total prolactin and macroprolactin levels were significantly higher among those taking paliperidone and risperidone than among those taking any of the other antipsychotics (pprolactin and macroprolactin. Sexual dysfunction was reported in 35.5% (87/245) of the total subjects. However, the total prolactin level did not differ significantly between subjects with and without sexual dysfunction except gynecomastia. These findings suggest that treatment with risperidone and paliperidone can induce hyperprolactinemia and macroprolactinemia in psychiatric patients.

  10. Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.

    Rinaldi, Carlo; Bott, Laura C; Chen, Ke-lian; Harmison, George G; Katsuno, Masahisa; Sobue, Gen; Pennuto, Maria; Fischbeck, Kenneth H


    Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen receptor. Patients develop slowly progressive proximal muscle weakness, muscle atrophy and fasciculations. Affected individuals often show gynecomastia, testicular atrophy and reduced fertility as a result of mild androgen insensitivity. No effective disease-modifying therapy is currently available for this disease. Our recent studies have demonstrated that insulinlike growth factor (IGF)-1 reduces the mutant androgen receptor toxicity through activation of Akt in vitro, and spinal and bulbar muscular atrophy transgenic mice that also overexpress a noncirculating muscle isoform of IGF-1 have a less severe phenotype. Here we sought to establish the efficacy of daily intraperitoneal injections of mecasermin rinfabate, recombinant human IGF-1 and IGF-1 binding protein 3, in a transgenic mouse model expressing the mutant androgen receptor with an expanded 97 glutamine tract. The study was done in a controlled, randomized, blinded fashion, and, to reflect the clinical settings, the injections were started after the onset of disease manifestations. The treatment resulted in increased Akt phosphorylation and reduced mutant androgen receptor aggregation in muscle. In comparison to vehicle-treated controls, IGF-1-treated transgenic mice showed improved motor performance, attenuated weight loss and increased survival. Our results suggest that peripheral tissue can be targeted to improve the spinal and bulbar muscular atrophy phenotype and indicate that IGF-1 warrants further investigation in clinical trials as a potential treatment for this disease.

  11. A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation

    Shyam M Talreja


    Full Text Available Ovotesticular disorder of sex development (OT-DSD is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

  12. An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome

    Riyas Basheer


    Full Text Available Prader-Willi syndrome (PWS is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m 2 . He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.

  13. Breast systemic follicular lymphoma in a man: a case report

    La Mantia Elvira


    Full Text Available Abstract Introduction Breast involvement by non-Hodgkin lymphoma is particularly rare in men. We describe the case of a patient with a rapidly growing, painless gynecomastia-like nodule in the left breast. On ultrasonography, the nodule was suspicious for breast carcinoma. Case presentation A breast biopsy from a 54-year-old Caucasian man showed the morphoimmunophenotypical features of grade 3 follicular lymphoma. Moreover, fluorescence in situ hybridization analysis showed a t(14,18 translocation suggesting breast involvement by a systemic lymphoma rather than a primary breast lymphoma. The histological diagnosis was subsequently confirmed after nodule excision. Mediastinal and abdominal node involvement was then identified on computed tomography and positron emission tomography scans during staging examinations. Our patient was treated with chemotherapy. After three years our patient experienced a right retro-areolar relapse. He then received two further cycles of chemotherapy but developed a myeloid acute leukemia and, as a result of this, he subsequently died. Conclusions The rarity of breast lymphomas, especially in men, and the problems related to the therapeutic choices with these tumors require molecular techniques in association with classical histological diagnosis.

  14. Can prophylactic breast irradiation contribute to cardiac toxicity in patients with prostate cancer receiving androgen suppressing drugs?

    Molls Michael


    Full Text Available Abstract Background Androgen suppression treatment (AST might increase the risk of cardiac morbidity in prostate cancer patients. Possible explanations were provided, however, they disregard the potential contribution of prophylactic radiotherapy to the mamillary regions (PMRT, prescribed to avoid gynecomastia. Methods We studied the exposure of the heart in a typical electron beam PMRT setting by evaluating computed tomography (CT scans in 40 non-cancer patients (age 65 and 75 years in 50% each and 17 prostate cancer patients. Five of the younger, 7 of the older and 4 of the cancer patients had significant cardiac disease. Results The median distance between skin and outer heart contour decreased with age. In all three groups, patients with cardiac morbidity had smaller distances. When using the CT-determined PMRT beam energy, 10% of the younger, 15% of the older and none of the prostate cancer patients would receive approximately 50% of the prescription dose to a part of the heart (2 had no history of cardiac disease. When using the clinically rather than CT-determined beam energy, as often done in daily practice, an additional 12.5% of the non-cancer and 12% of the prostate cancer patients would be exposed to comparably high doses. Conclusion The present data provide preliminary evidence that PMRT might be a factor that contributes to cardiac side effects. Previous studies that established a relationship between AST and cardiac morbidity did not include information on delivery of PMRT.

  15. Anabolic-Androgenic Steroids - doi:10.5020/18061230.2007.p267

    Urival Magno Gomes Ferreira


    Full Text Available There are evidences of the increase in the consumption of anabolic steroids and the damages to health caused by their indiscriminate use, mainly among children and youngsters. The anabolic-androgenic steroids (AAS consist in testosterone and its derivatives. They are produced endogenously in the testicles and adrenal cortex and are responsible for the secondary sexual characteristics associated to masculinity. Although the results of the exogenous use of AAS are still controversial, they have been used for the increase of physical strength and muscle mass. These substances are directly related to different clinical conditions such as: bladder cancer, coronary disease, gynecomastia, hepatic disorders and cancer, and sterility. This study aimed at approaching relevant topics related to the drugs action mechanisms, ways of use and metabolism, and side effects, besides the importance of the prevention in the use of those drugs in most diverse age groups. The abusive use of anabolic-androgenic steroids consists in a problem that has gradually occurred, which has given rise to laws, rules and support groups turned to the prevention, education and restriction of their use.

  16. Acute mucocutaneous and systemic adverse effects of Etretinate

    "Mortazavi H


    Full Text Available This cross sectional study was carried out between 1993 to 1998 at Razi Skin Hospital, the affiliated Dermatology Department of Tehran University of Medical Sciences. Eight hundred patients receiving etretinate for various skin diseases took part in this study. Among them, 457 patients with first admission to dermatologic clinic who had at least four regular sequential visits and responding to our questionnaire were selected to enter the study for evaluating acute toxicity of etretinate. Cheilitis with a frequency of 88 percent was the most frequent side effect. Hair loss (22.97%, dry mouth with thirst (15.09%, dryness of mucous membranes (13.12%, xerosis with pruritus (11.15%, nose bleeding (8.31%, paronychia (5.47%, facial dermatitis (3.06%, conjunctivitis (2.84% and in addition to mucocutaneous ones, chills (2.63%, headache (2.19%, mental depression (2.19%, urinary frequency (1.53% and papilledema (0.44% were among the other observed toxicities, The relationship between mucocutaneous side effect with dosage of etretinate, sex and, age of the patients was evaluated. The association between mucoctaneous toxicities and sex was significant, sex and, age of the patients was evaluated. The association between mucocutaneous toxicities and sex was significant (P<0.05. We observed four rare side effect in the patients including hair color lightening appering as whitening or blondness, hair waving, dyspareunia and gynecomastia. In conclusion, females were more to acute mucocutaneous toxicities of etretinate.

  17. A Rare Presentation of the Klinefelter’s Syndrome

    Hezarkhani, Sharabeh; Moujerloo, Mohammad; Sedighi, Sima; Taheri, Negar Sadat


    A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter’s syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and siblings. His laboratory tests showed high levels of FSH and normal levels of LH and testosterone. With regards to all these findings, we suspected that there might be an occult Klinefelter’s syndrome. So, we made his karyotype that showed a 47XXY pattern. Because there are only a few number of cases that have occult Klinefelter’s syndrome in the basis of chronic renal failure, we decided to report this case. PMID:23285452

  18. Biochemical Manifestation of HIV Lipodystrophy Syndrome

    Kenneth Ihenetu, PhD


    Full Text Available Objectives:Highly active anti-retroviral therapy (HAART, including protease inhibitors (PI have led to dramatic improvements in the quality and quantity of life in patients with acquired immunodeficiency syndrome (AIDS. However, a significant number of AIDS patients on HAART develop characteristic changes in body fat redistribution referred to as lipodystrophy syndrome (LDS. Features of LDS include hypertrophy in the neck fat pad (buffalo hump, increased fat in the abdominal region (protease paunch, gynecomastia and loss of fat in the mid-face and extremities.Methods:The aim of this paper is to review the current knowledge regarding this syndrome. This article reviews the published investigations on biochemical manifestation of HIV lipodystrophy syndrome.Results:It is estimated that approximately 64% of patients treated with PI will experience this syndrome. Biochemically, these patients have increased triglycerides (Trig, total cholesterol (TC, low-density lipoprotein-cholesterol (LDL-C and extremely low high-density lipoprotein-cholesterol (HDL-C.Conclusions and Public Health Implications:It is hoped that awareness of this syndrome would aid in early diagnosis and better patient management, possibly leading to a lower incidence of cardiovascular complications among these patients.

  19. Aromatherapy as an adjuvant treatment in cancer care--a descriptive systematic review.

    Boehm, Katja; Büssing, Arndt; Ostermann, Thomas


    Claims of benefits of aromatherapy for cancer patients include reduced anxiety levels and relief of emotional stress, pain, muscular tension and fatigue. The objective of this paper is to provide an updated descriptive, systematic review of evidence from pre-clinical and clinical trials assessing the benefits and safety of aromatherapy for cancer patients. Literature databases such as Medline (via Ovid), the Cochrane database of systematic reviews, Cochrane Central were searched from their inception until October 2010. Only studies on cancer cells or cancer patients were included. There is no long lasting effect of aromatherapy massage, while short term improvements were reported for general well being, anxiety and depression up to 8 weeks after treatment. The reviewed studies indicate short-term effects of aromatherapy on depression, anxiety and overall wellbeing. Specifically, some clinical trials found an increase in patient-identified symptom relief, psychological wellbeing and improved sleep. Furthermore, some found a short-term improvement (up to 2 weeks after treatment) in anxiety and depression scores and better pain control. Although essential oils have generally shown minimal adverse effects, potential risks include ingesting large amounts (intentional misuse); local skin irritation, especially with prolonged skin contact; allergic contact dermatitis; and phototoxicity from reaction to sunlight (some oils). Repeated topical administration of lavender and tea tree oil was associated with reversible prepubertal gynecomastia.

  20. [Hyperprolactinemia unrelated to prolactinoma].

    Krysiak, Robert; Okopień, Bogusław


    Hyperprolactinemia, defined as prolactin levels above the upper limit of normal range, is the most frequent hypothalamus-pituitary dysfunction. Clinical symptoms of hyperprolactinemia in women include oligomenorrhea, infertility, and galactorrhea, while in men the condition may lead to hypogonadism, decreased libido, erectile dysfunction, infertility, gynecomastia, and, in rare instances, galactorrhea. In many patients, hyperprolactinemia results from the presence of prolactinoma, which is considered as the most common hormone-secreting pituitary tumors. However, transient or long-term hyperprolactinemia may also develop during different physiological situations or due to several diseases. It is also a frequent but often neglected side effect of many drugs, particularly of antipsychotics. Finally, hyperprolactinemia may be secondary to the predominance of high molecular mass circulating prolactin forms that have been postulated to represent complexes of prolactin and anti-prolactin immunoglobulins (macroprolactinemia). The cause of hyperprolactinemia determines its treatment. In this paper, we review the causes of hyperprolactinemia unrelated to prolactinoma, providing a differential diagnosis of this condition.

  1. [A mourning case that referred with sexual identity disorder secondary to a general medical condition].

    Yilmaz, Ayşegül; Ceri, Ozge; Tatlidil, Elif; Koçak, Orhan Murat; Soykan, Atilla


    D.G. was a 59-year-old male patient who was retired and married, and had 3 children. He reported no psychopathology prior to a myocardial infarction he had in 1996. Following bypass surgery he had erectile dysfunction. Subsequently, gynecomastia developed as a side effect of spironolactone and digoxin treatment. After a long period of depression he claimed was caused by non-adaptation to the changes in his body, he realized differences about himself; he began to feel like a woman. Upon referral to our clinic, he said that he had decided to continue his life as a woman and wished to get pink colored (as opposed to blue for male) identity card issued by the Turkish Government for female Turkish citizens. He reported that his wish was to learn how to become a woman. This is the first case in the medical literature defined as sexual identity disorder secondary to a general medical condition. The case is discussed in terms of pathological grief reaction.

  2. Prolactin levels and adverse events in patients treated with risperidone.

    Kleinberg, D L; Davis, J M; de Coster, R; Van Baelen, B; Brecher, M


    Hyperprolactinemia is a common clinical disorder that may lead to sexual dysfunction or galactorrhea. It may arise from a variety of etiologies, including the use of antipsychotic agents, presumably because of a dopamine receptor blockade. This analysis was designed to characterize the relationship between risperidone, serum prolactin levels, and possible clinical sequelae. All data from randomized, double-blind studies of risperidone in patients with chronic schizophrenia were analyzed. The two largest studies (the North American and multinational trials) included 841 patients (259 women, 582 men) with paired prolactin level data and 1,884 patients (554 women, 1,330 men) with data on six adverse events possibly associated with increased prolactin levels (amenorrhea, galactorrhea, and decreased libido in women; erectile dysfunction, ejaculatory dysfunction, gynecomastia, and decreased libido in men). Both risperidone and haloperidol produced dose-related increases in plasma prolactin levels in men and women. Among women, the risperidone dose was not correlated with adverse events, nor were the adverse events correlated with endpoint prolactin levels. Among men, the incidence of adverse events was positively correlated with risperidone dose; however, at risperidone doses of 4 to 10 mg/day the incidence of adverse events was not significantly higher than that observed in patients receiving placebo. Furthermore, adverse events in men were unrelated to plasma prolactin levels. Risperidone-associated increase in serum prolactin levels was not significantly correlated to the emergence of possible prolactin-related side effects.

  3. Clinical implications of antipsychotic-induced hyperprolactinemia in patients with schizophrenia spectrum or bipolar spectrum disorders: recent developments and current perspectives.

    Byerly, Matthew; Suppes, Trisha; Tran, Quynh-Van; Baker, Ross A


    Hyperprolactinemia is increasingly studied as a frequent and potentially important consequence of antipsychotic medication treatment. Some individuals presenting with hyperprolactinemia remain asymptomatic, but others may exhibit a wide range of clinical symptoms resulting from either the direct effects of prolactin on body tissues (galactorrhea, gynecomastia) or endocrine-related secondary effects (sexual and reproductive dysfunction in the short term, and possibly the risk of tumorigenesis and osteoporosis in the longer term). Short-term side effects may negatively impact medication compliance, and long-term effects have the potential for serious health consequences. Antipsychotic medications have differing propensities to cause prolactin elevation. The first-generation antipsychotics, as well as the second-generation antipsychotic risperidone and its active metabolite paliperidone, have been shown to cause marked and sustained elevations in prolactin levels, whereas others of the second-generation antipsychotics appear to have little or no effect on prolactin levels or may decrease prolactin. A comprehensive overview of antipsychotics and hyperprolactinemia is presented together with a review of emerging evidence about the short- and long-term health risks of hyperprolactinemia.

  4. Antipsychotic-induced hyperprolactinemia.

    Bostwick, Jolene R; Guthrie, Sally K; Ellingrod, Vicki L


    Use of antipsychotic agents has been associated with hyperprolactinemia, or elevated prolactin levels; this hormonal abnormality can interfere with the functioning of reproductive, endocrine, and metabolic systems. As antipsychotic agents are increasingly used for both United States Food and Drug Administration-approved and nonapproved indications, many individuals are at risk for developing antipsychotic-induced hyperprolactinemia. First-generation antipsychotics pose the greatest risk of causing this adverse effect; however, second-generation antipsychotics, particularly risperidone and paliperidone, also often increase prolactin secretion. Hyperprolactinemia has short- and long-term consequences that can seriously affect quality of life: menstrual disturbances, galactorrhea, sexual dysfunction, gynecomastia, infertility, decreased bone mineral density, and breast cancer. Although many of these are definitively connected to elevated prolactin levels, some, such as breast cancer, require further study. Both clinicians and patients should be aware of hyperprolactinemia-associated effects. To prevent or alleviate the condition, tailoring an antipsychotic drug regimen to each individual patient is essential. In addition, the risk of hyperprolactinemia can be minimized by using the lowest effective dose of the antipsychotic agent. If the effects of prolactin are evident, the drug can be changed to another agent that is less likely to affect prolactin levels; alternatively, a dopamine agonist may be added, although this may compromise antipsychotic efficacy. Additional research is needed to clarify the appropriate level of monitoring, the long-term effects, and the optimal treatment of antipsychotic-induced hyperprolactinemia.

  5. Management of psychotropic-induced hyperprolactinemia.

    Marken, P A; Haykal, R F; Fisher, J N


    The effects of individual psychotropic medications on serum prolactin concentrations are described, and recommendations for dealing with adverse effects are provided. Hyperprolactinemia can result in galactorrhea, amenorrhea, irregular menses, and anovulation; in men, impotence and azoospermia, with or without lactation and gynecomastia, can occur. Antipsychotics may block dopamine receptors in the pituitary prolactin-secreting cells and prevent dopamine-induced reduction of prolactin release. The magnitude of the increase in prolactin concentration correlates with the amount of antipsychotic drug given. The treatment of choice is reduction of the antipsychotic dosage or discontinuation of therapy. If adjustments to the antipsychotic dosage fail to resolve symptoms, the dopamine agonists bromocriptine and amantadine may be tried. Antidepressants may produce elevated serum prolactin concentrations, especially with long-term administration. However, the frequency of antidepressant-induced hyperprolactinemia is much lower than that seen with antipsychotics, and serious adverse clinical effects are uncommon. Other psychotropic drugs such as lithium, valproic acid, buspirone, carbamazepine, and benzodiazepines either are only rarely associated with symptomatic hyperprolactinemia or do not produce clinically important changes in prolactin concentrations. Antipsychotic drugs are the psychotropic agents most likely to cause symptomatic hyperprolactinemia. Bromocriptine or amantadine may provide symptomatic relief if withdrawal or adjustment of the antipsychotic dosage does not eliminate the symptoms.

  6. Prolactin elevation with antipsychotic medications: mechanisms of action and clinical consequences.

    Maguire, Gerald A


    Antipsychotic agents differ in efficacy and side effects such as movement disorders and prolactin elevation because of varying mechanisms of action. A revised nomenclature for antipsychotic agents, which categorizes the drugs according to efficacy, risk of movement disorders, and risk of prolactin elevation, is described. Prolactin elevation, a potential side effect of some antipsychotic medications, is underdiagnosed but can have serious short-term and long-term consequences. Short-term problems include menstrual irregularities, sexual dysfunction, and depression. Long-term problems related to prolactin elevation include decreased bone density and osteoporosis, relapse of psychosis because of poor compliance due to sexual dysfunction or depression, and perhaps cancer, although more research in this area is needed. Despite the serious nature of these effects, prolactin elevation is seldom detected because clinicians often fail to inquire about sexual function or other symptoms that signal that a patient's prolactin may be elevated. These are problems that patients may not bring up with clinicians unless they are asked. Therefore, when patients are taking antipsychotic medications, clinicians should regularly inquire about sexual dysfunction, depression, menstrual disturbances, galactorrhea, and gynecomastia.

  7. Sexual dysfunction with antihypertensive and antipsychotic agents.

    Smith, P J; Talbert, R L


    The physiology of the normal sexual response, epidemiology of sexual dysfunction, and the pharmacologic mechanisms involved in antihypertensive- and antipsychotic-induced problems with sexual function are discussed, with recommendations for patient management. The physiologic mechanisms involved in the normal sexual response include neurogenic, psychogenic, vascular, and hormonal factors that are coordinated by centers in the hypothalamus, limbic system, and cerebral cortex. Sexual dysfunction is frequently attributed to antihypertensive and antipsychotic agents and is a cause of noncompliance. Drug-induced effects include diminished libido, delayed orgasm, ejaculatory disturbances, gynecomastia, impotence, and priapism. The pharmacologic mechanisms proposed to account for these adverse effects include adrenergic inhibition, adrenergic-receptor blockade, anticholinergic properties, and endocrine and sedative effects. The most frequently reported adverse effect on sexual function with the antihypertensive agents is impotence. It is seen most often with methyldopa, guanethidine, clonidine, and propranolol. In contrast, the most common adverse effect on sexual function with the antipsychotic agents involves ejaculatory disturbances. Thioridazine, with its potent anticholinergic and alpha-blocking properties, is cited most often. Drug-induced sexual dysfunction may be alleviated by switching to agents with dissimilar mechanisms to alter the observed adverse effect while maintaining adequate control of the patient's disease state.

  8. Long-term adverse effects of novel antipsychotics.

    Masand, P S; Gupta, S


    The introduction of novel antipsychotics for the treatment of patients with serious psychiatric illness has alleviated the burden of managing some of the side effects of conventional agents. However, the novel agents may also cause adverse events. The long-term adverse events of concern include weight gain, diabetes, tardive dyskinesia (TD), and those associated with hyperprolactinemia. Recent studies with the novel agents have prompted clinicians to revisit antipsychotic-induced weight gain. Clinically significant weight gain puts patients at risk for coronary heart disease, hypertension, type II diabetes, dyslipidemia, and some types of cancer. More recently, case reports of glucose abnormalities and diabetes have emerged, indicating that some novel antipsychotics may be associated with altered glucose metabolism or insulin sensitivity. The novel antipsychotics may also have a lower propensity for causing TD than the conventional antipsychotics. Side effects associated with hyperprolactinemia include galactorrhea, gynecomastia, and menstrual and sexual dysfunction. All of these adverse events can cause patients to become non-compliant and may thus predispose them to relapse. In this review, the authors summarize the literature on the long-term side effects of the novel antipsychotics and examine the severity of the problem, with recommendations for management. When selecting treatments, clinicians should consider the side-effect profiles of the various antipsychotic agents.

  9. Hypospadias as a novel feature in spinal bulbar muscle atrophy.

    Nordenvall, Anna Skarin; Paucar, Martin; Almqvist, Catarina; Nordenström, Anna; Frisén, Louise; Nordenskjöld, Agneta


    Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. The SBMA phenotype consists of slowly progressive neuromuscular symptoms and undermasculinization features as the result of malfunction of the AR. The latter mainly includes gynecomastia and infertility. Hypospadias is also a feature of undermasculinization with an underdeveloped urethra and penis; it has not been described as part of the SBMA phenotype but has been suggested to be associated with a prolonged CAG repeat in the AR gene. This study includes the first epidemiologic description of the co-occurrence of hypospadias and SBMA in subjects and their male relatives in Swedish population-based health registers, as well as an additional clinical case. One boy with severe hypospadias was screened for mutations in the AR gene and was found to have 42 CAG repeats in it, which is in the full range of mutations causing SBMA later in life. We also detected a maximum of four cases displaying the combination of SBMA and hypospadias in our national register databases. This is the third case report with hypospadias in association with CAG repeat expansions in the AR gene in the full range known to cause SBMA later in life. Our findings suggest that hypospadias may be an under diagnosed feature of the SBMA phenotype and we propose that neurologists working with SBMA further investigate and report the true prevalence of hypospadias among patients with SBMA.

  10. Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.

    Acewicz, Albert; Wierzba-Bobrowicz, Teresa; Lewandowska, Eliza; Sienkiewicz-Jarosz, Halina; Sulek, Anna; Antczak, Jakub; Rakowicz, Maria; Ryglewicz, Danuta


    Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is an X-linked recessive disease affecting lower motor neurons. In the present case report, we describe morphological changes in a muscle biopsy obtained from a 62-year-old patient with gynecomastia and with the following neurological symptoms: dysphagia, dysarthria, wasting and fasciculation of the tongue, proximal weakness, fasciculations in the limb muscles, and an absence of all tendon reflexes. Neurogenic alternations were predominantly observed using light and electron microscopy. The angulated atrophic muscle fibers formed bundles. The numerous nuclei were pyknotic or pale, some of them were also ubiquitin positive; they were grouped inside so-called "nuclear sacks". At the ultrastructural level, atrophic muscle fibers revealed disruption and loss of sarcomeres, duplication of Z-line, and rod-like structures. The nuclei, often with irregular shapes, revealed varying degrees of chromatin condensation, from dispersed to highly condensed, like pyknotic nuclei. Occasionally electron-dense inclusions in the nuclei were found. Some myogenic features like hypertrophic muscle fibers and proliferation of connective tissue were also visible. The neurogenic and myogenic pathological changes suggested SBMA, which was confirmed with genetic analysis (trinucleotide CAG (glutamie)-repeat expansion in the androgen-receptor gene).

  11. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

    Javier Sánchez


    Full Text Available Angelman syndrome (AS, OMIM 105830 is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG. The majority of AS cases (70% are caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS occurs due to the presence of an extra X chromosome (karyotype 47,XXY. The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome of paternal origin. He showed dysmorphic features, axial hypotonia, and delayed acquisition of motor skills. Early diagnosis is essential for optimal treatment of AS children; this is one of the earliest diagnosed cases of AS probably due to the presence of two syndromes. Clinical findings in this patient here described may be helpful to identify any other cases and to evaluate recurrence risks in these families.

  12. Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report Fenótipo de doença de Kennedy com estudo genético positivo para doença de Kugelberg-Welander: relato de caso

    Ana P. Trentin


    Full Text Available We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.Descrevemos um paciente com achados clínicos de doença de Kennedy e estudo genético positivo para doença de Kugelberg-Welander. Homem, 24 anos e história familiar negativa, iniciou aos 14 anos com atrofia muscular espinhal de caráter progressivo com ginecomastia. Obteve diagnóstico clínico de doença de Kennedy, entretanto o estudo genético foi negativo para esta doença e positivo para doença de Kugelberg-Welander, com deleções dos exons 7 e 8 e do gene do survival of motor neuron.

  13. [Hyperprolactinemia and sexual activity of men--clinical aspect].

    Medraś, Marek; Jankowska, Ewa Anita


    Hyperprolactinemia, particularly resulting from microprolactinoma, is known to induce erectile dysfunction. Contemporary published data do not allow to ascertain which prolactin (PRL) levels result in this type of sexual dysfunctions. The aim of this study was to evaluate the relationship between the extent of hyperprolactinemia and erectile dysfunction in 9 men with microprolactinoma and 8 patients with hyperprolactinemia as side-effects of sulpiride therapy. In all hyperprolactinemic males plasma PRL, LH, FSH and total testosterone levels were measured. The results showed that all patients with iatrogenic hyperprolactinemia were characterised by satisfactory sexual activity, although in 3 men hypotestosteronemia was revealed and in one patient gynecomastia was found. A range of PRL levels was 35-108 ng/ml. Among men with microprolactinoma the capability to lead a satisfactory sexual activity existed, even though in one patient PRL level was 2177 ng/ml, but in 3 other patients importance was observed when PRL concentrations were 281, 195 and 328 ng/ml. After bromocriptine therapy, when PRL levels diminished until 189, 78.3 and 110 ng/ml, the erectile dysfunction disappeared. Authors presume that sexual dysfunctions are not strictly connected with hyperprolactinemia and/or hypotestosterionemia, but probably are conditioned by other unexplicit factors (for example: a heterogeneous structure of PRL complexes).

  14. [Specificities of sex-cord stromal tumors in children and adolescents].

    Thebaud, Estelle; Orbach, Daniel; Faure-Conter, Cécile; Patte, Catherine; Hameury, Frederic; Kalfa, Nicolas; Dijoud, Frédérique; Martelli, Hélène; Fresneau, Brice


    Sex-cord stromal tumors (SCT) are rare pediatric tumors accounting for less than 5% of gonadal tumors in children and adolescents. They differ from those diagnosed in adults by their presentation, histology, evolution and treatment modalities. Testicular SCT occur mostly in infants less than 6 months. Testicular swelling is often the only symptom, but signs of hormonal secretion with gynecomastia may be present. Juvenile granulosa SCT is the main histologic subtype. Sertoli SCTs are much less frequent while Leydig tumors occurred in older children and adolescents. Prognosis is excellent after inguinal orchiectomy. Testis sparing surgery could be performed but indications and modalities have to be strongly defined. Ovarian SCT are diagnosed in older children and adolescents and present with abdominal symptoms and/or signs of hormonal secretion: estrogenic manifestations (isosexual pseudoprecocity, menometrorrhagia) or virilization (hirsutism, amenorrhea). Main histologic subtype is juvenile granulosa (rarely Sertoli-Leydig). If oophorectomy (or salpingo-oophorectomy) may be curative for localized disease, adjuvant cisplatin-containing chemotherapy is mandatory in case of tumor rupture or peritoneal dissemination to prevent recurrences. Because of the rarity of these pediatric tumors, concerted multidisciplinary cares are required to best adapt therapeutic strategy before any surgical intervention. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  15. Galactorrhea due to psychotropic drugs.

    Kropp, S; Ziegenbein, M; Grohmann, R; Engel, R R; Degner, D


    Within the drug safety program in psychiatry AMSP ( Arzneimittelsicherheit in der Psychiatrie), severe adverse drug reactions (ADRs) are assessed. Currently 35 psychiatric hospitals and departments are participating in detecting severe ADRs. This paper focuses on prolactin-dependent ADRs such as gynecomastia and galactorrhea due to psychotropic medications. Related to the number of patients surveyed (122,562 from 1993 to 2000), these are rare events (0.03 % or 35 cases). Imputed drugs were mostly antipsychotics, but antidepressants were also imputed in single cases. In the group of antipsychotics, relative frequencies of galactorrhea were highest for amisulpride and risperidone and corresponded to the degree of D2 binding. Galactorrhea assessed as "severe" was accompanied by distressing symptoms such as pain, tension, enlargement of breasts, or soaked clothing. The AMSP data contribute to the knowledge on endocrine ADRs by the large number of patients examined and help clinicians select the appropriate drug if their patients have been prone to for these ADRs in the past.

  16. Klinefelter syndrome.

    Smyth, C M; Bremner, W J


    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  17. Sustained remission of Cushing's disease with mitotane and pituitary irradiation

    Schteingart, D.E.; Tsao, H.S.; Taylor, C.I.; McKenzie, A.; Victoria, R.; Therrien, B.A.


    Low doses of mitotane were given orally to 36 patients with Cushing's disease, concurrently with or after pituitary cobalt irradiation. Clinical and biochemical remission occurred in 29. The response to treatment occurred early in 17 patients and late in 12. The different pattern of response to mitotane was not related to the dose given or to its serum level. Early biochemical indicators of adrenal suppression with mitotane were a sharp decrease in adrenal response to the infusion of ACTH and in plasma levels of dehydroepiandrosterone sulfate. Although mitotane was given together with pituitary irradiation, initial remission was due mainly to the adrenal effect of mitotane. Plasma ACTH levels were still elevated when cortisol had returned to normal. In seventeen of the 29 patients who responded to treatment drug therapy has been discontinued, and they remain in remission of Cushing's syndrome. Side-effects have been dose dependent, with anorexia, nausea, decreased memory, and gynecomastia in men being the commonest.

  18. [Paraneoplastic limbic encephalitis with positive anti-RI antibodies and mediastinal seminoma].

    Launay, M; Bozzolo, E; Venissac, N; Delmont, E; Fredenrich, A; Thomas, P


    We report the case of a 49-year-old man who was admitted for progressive behaviorial disorders with frontal elements. There was no sensorial nor motor deficiency. Clinical examination revealed android obesity, cutaneous and mucous paleness, pubic and axillary depilation and gynecomastia. Encephalic MRI found a lesion of the left amygdalian region with high T2 intensity and low T1 intensity associated with gadolinium-enhancement. Cerebrospinal fluid analysis showed a lymphocytic meningitis. Panhypopituitarism was found on the endocrine investigations. Anti-RI antibodies were positive, leading to the diagnosis of paraneoplastic limbic encephalitis. The CT-scan showed a node of the lower part of the thymic area. Surgical resection revealed an ectopic mediastinal seminoma. The evolution consisted of paraneoplastic fever and crossed-syndrome with right hemiparesia and left common oculomotor nerve paralysis. Treatment was completed by two cycles of carboplatin, corticosteroids and substitutive opotherapy. Paraneoplastic fever disappeared, but behavioral disorders and palsy remain unchanged. The patient died two years later in a bedridden state. This case of paraneoplastic limbic encephalitis associated with positive anti-RI antibodies and mediastinal seminoma is exceptional and has not to our knowledge been described in the literature. Cancers usually associated with anti-RI antibody are breast and lung cancer. Paraneoplastic limbic encephalitis is not the classical clinical presentation, which usually is brainstem encephalitis. Hypothalamic involvement, uncommon in paraneoplastic limbic encephalitis is mainly associated with positive antineuronal anti-Ma2 antibodies. Finally, the gadolinium enhancement on encephalic MRI is unusual in paraneoplastic limbic encephalitis.

  19. Testosterone replacement therapy for older men

    Stephen E Borst


    Full Text Available Stephen E Borst, Thomas MulliganGeriatrics Research, Education, and Clinical Center, North Florida/South Georgia Veterans Health System, Gainesville, FL, USAAbstract: Despite intensive research on testosterone therapy for older men, important questions remain unanswered. The evidence clearly indicates that many older men display a partial androgen deficiency. In older men, low circulating testosterone is correlated with low muscle strength, with high adiposity, with insulin resistance and with poor cognitive performance. Testosterone replacement in older men has produced benefits, but not consistently so. The inconsistency may arise from differences in the dose and duration of testosterone treatment, as well as selection of the target population. Generally, studies reporting anabolic responses to testosterone have employed higher doses of testosterone for longer treatment periods and have targeted older men whose baseline circulating bioavailable testosterone levels were low. Most studies of testosterone replacement have reported anabolic that are modest compared to what can be achieved with resistance exercise training. However, several strategies currently under evaluation have the potential to produce greater anabolic effects and to do so in a safe manner. At this time, testosterone therapy can not be recommended for the general population of older men. Older men who are hypogonadal are at greater risk for the catabolic effects associated with a number of acute and chronic medical conditions. Future research is likely to reveal benefits of testosterone therapy for some of these special populations. Testosterone therapy produces a number of adverse effects, including worsening of sleep apnea, gynecomastia, polycythemia and elevation of PSA. Efficacy and adverse effects should be assessed frequently throughout the course of therapy.Keywords: aging, testosterone, hypogonadism, physical function


    Bambang Wasito Tjipto


    Full Text Available Background: Testosterone was the most important androgen secreted into the blood in males. It was responsible for development of secondary male sex characteristics and its measurements are helpful in evaluating the hypogonadal states. Decreasing of testosterone in males started in middle age, about 45–59 years old. It is responsible of decreasing muscle mass and strength, increasing of body fat especially abdominal fat and gynecomastia, less of libido and sexual intercourse frequency, increase of erectile dysfunction. Objective: The objective of this study was conducted stimulation on acupuncture reproduction point to increase testosterone hormone level in elder’s men. Methods: The study used non randomized experiment pre- post test without control group design, the samples was 40 older men, about 50 – more than 70 years old. The stimulation on acupuncture point CV-4, Sp-6, LV-3, and ST-36, on older men were given five times per week, for ten treatments, before treatment each patient was determined the concentration of testosterone hormone and after ten times acupuncture treatment. Results: 15 old men, have increased testosterone level, 20 old men have decreased testosterone level, and 16 old men have no changes in libido after ten times acupuncture treatment. Not all responder after therapy acupuncture ten times at reproduction point have increased of hormone testosterone. Most of 50–69 year men have increased testosterone level. Men above 70 year have no changes testosterone level. There were 24 old men have changes in libido without increased testosterone level. Conclusion: acupuncture may used as alternative therapy to increased testosterone level and libido for elderly men. Key words: Acupuncture, testosterone hormone, old men

  1. Bloody nipple discharge in children: possible etiologies and selection of appropriate therapy.

    Imamoglu, Mustafa; Cay, Ali; Reis, Abdülkadir; Ozdemir, Oğuzhan; Sapan, Levent; Sarihan, Haluk


    An understanding of underlying causes of bloody nipple discharge (BND) is necessary to be able to advise treatment guidelines of this rare symptom in the pediatric age group. Of 11 patients with 14 breasts that had BND, data regarding age, sex, side and duration of BND, physical examination findings, laboratory values, culture reports, ultrasonography (US) findings, treatment approach, histopathologic details, and outcomes were obtained, and also, literature was reviewed. The patients were between 3 months and 12 years of age. There were six males and five females. The BND was located in the right breast in six patients, in the left in two, and it was bilateral in three. On physical examinations, seven patients had palpable cystic nodules located at the areolar area and three had a diffuse breast enlargement without skin findings. Laboratory investigations showed normal hormone levels in all patients. At US examinations, seven breasts had cystic lesions, three had hypoechoic tissue in the subareolar region, and others had normal US findings. In a girl with positive culture for Staphylococcus aureus, BND resolved after oral antibiotics. Two cases resolved spontaneously, with 6 months and 4 months follow-up periods, respectively. Surgical intervention was performed for the remaining eight patients, and mean time to operation after onset of symptoms was 10 months (range = 1-34 months). Histopathologic findings showed that the underlying cause of BND was duct ectasia in five breasts, gynecomastia in three, and fibrocystic change in two. Their follow-up periods ranged between 3 months and 6 years, and no recurrences were observed. Classification of breasts with BND for selecting appropriate therapy on the basis of results of careful physical examination, with an US evaluation in selected cases, is effective, and prevents unnecessary investigations.

  2. Food safety involving ingestion of foods and beverages prepared with phthalate-plasticizer-containing clouding agents.

    Yen, Tzung-Hai; Lin-Tan, Dan-Tzu; Lin, Ja-Liang


    In May 2011, the illegal use of the phthalate plasticizer di(2-ethylhexyl) phthalate in clouding agents for use in foods and beverages was reported in Taiwan. This food scandal has caused shock and panic among the majority of Taiwanese people and has attracted international attention. Phthalate exposure is assessed by ambient monitoring or human biomonitoring. Ambient monitoring relies on measuring chemicals in environmental media, foodstuff and consumer products. Human biomonitoring determines body burden by measuring the chemicals, their metabolites or specific reaction products in human specimens. In mammalian development, the fetus is set to develop into a female. Because the female phenotype is the default, impairment of testosterone production or action before the late phase may lead to feminizing characteristics. Phthalates disrupt the development of androgen-dependent structures by inhibiting fetal testicular testosterone biosynthesis. The spectrum of effects obtained following perinatal exposure of male rats to phthalates has remarkable similarities with the human testicular dysgenesis syndrome. Epidemiological studies have suggested associations between phthalate exposure and shorter gestational age, shorter anogenital distance, shorter penis, incomplete testicular descent, sex hormone alteration, precocious puberty, pubertal gynecomastia, premature thelarche, rhinitis, eczema, asthma, low birth weight, attention deficit hyperactivity disorder, low intelligence quotient, thyroid hormone alteration, and hypospadias in infants and children. Furthermore, many studies have suggested associations between phthalate exposure and increased sperm DNA damage, decreased proportion of sperm with normal morphology, decreased sperm concentration, decreased sperm morphology, sex hormone alteration, decreased pulmonary function, endometriosis, uterine leiomyomas, breast cancer, obesity, hyperprolactinemia, and thyroid hormone alteration in adults. Finally, the number of

  3. 47,XXX male: A clinical and molecular study.

    Ogata, T; Matsuo, M; Muroya, K; Koyama, Y; Fukutani, K


    We report a 53-year-old Japanese male with a 47,XXX karyotype. His clinical features included hypoplastic scrotal testes (4 ml bilaterally), normally formed small penis (3.8 cm), relatively poor pubic hair development (Tanner stage 3), gynecomastia, age-appropriate male height (159.1 cm), and mental retardation (verbal IQ of 56). Serum testosterone was markedly reduced (0.6 nmol/L). A needle biopsy showed severe testicular degeneration. FISH analysis revealed complex mosaicism consisting of (1) 47,XXX cells with a single copy of SRY (n = 177), two copies of SRY (n = 3), and no SRY (n = 1); (2) 46,XX cells with a single copy of SRY (n = 9) and no SRY (n = 3); (3) 45,X cells with no SRY (n = 5); and (4) 48,XXXX cells with a single copy of SRY (n = 1) and two copies of SRY (n = 1). PCR analysis showed the presence of Yp portion with the breakpoint between DYS264 and AMELY. Microsatellite analysis demonstrated three alleles for DMD and AR. X-inactivation analysis for the methylation status of the AR gene showed random inactivation of the three X chromosomes. The results suggest that this 47,XXX male has resulted from abnormal X-Y interchange during paternal meiosis and X-X nondisjunction during maternal meiosis. Complex mosaicism may be due to the age-related increase in mitotic nondisjunction which is prone to occur in rapidly dividing lymphocytes and to the presence of two randomly inactivated X chromosomes which may behave asynchronously during mitosis, and clinical features of this male would primarily be explained by the genetic information on the SRY (+) der(X) chromosome and his advanced age.

  4. Klinefelter syndrome and other sex chromosomal aneuploidies

    Graham John M


    Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

  5. Dutasteride: an evidence-based review of its clinical impact in the treatment of benign prostatic hyperplasia

    Andrew Thomson


    Full Text Available Andrew ThomsonCore Medical Publishing, Knutsford, UKIntroduction: Benign prostatic hyperplasia (BPH is a common condition affecting older men. Bothersome symptoms can progress to serious complications such as acute urinary retention (AUR requiring surgical intervention. Dutasteride, a dual 5-alfa-reductase (5AR inhibitor (5ARI, is a recently introduced therapy for the treatment of BPH. Aims: The objective of this article is to review the evidence for the treatment of BPH with dutasteride. Evidence review: Evidence from large clinical studies shows that men with an enlarged prostate achieve a measurable decrease in prostate volume by up to 26% after 4 years of treatment with dutasteride and urinary symptoms improve after 6 months of treatment. This is achieved by rapid suppression (through inhibition of 5AR of the principal androgen (dihydrotestosterone or DHT responsible for stimulating prostatic growth. Evidence suggests that dutasteride treatment results in a reduction in risk (rather than delay of the most serious complications including episodes of AUR and the need for BPH-related surgery. Early symptom relief has been achieved with the combination of an alfa blocker and dutasteride. There is good evidence that dutasteride is well tolerated; side effects limited to sexual dysfunction (reduced libido, impotence, and gynecomastia are more common compared with placebo but occur with a similar incidence to finasteride, another 5ARI. No pharmacoeconomic evidence from studies with dutasteride has so far been published.Clinical value: In conclusion, dutasteride is a valuable treatment option in men with moderate to severe BPH. Reductions in prostate volume lead to symptom relief and serious complications appear to be reduced.Key words: dutasteride, evidence-based review, benign prostatic hyperplasia (BPH, 5-alfa-reductase inhibitor

  6. MECHANISMS IN ENDOCRINOLOGY: Medical consequences of doping with anabolic androgenic steroids: effects on reproductive functions.

    Nieschlag, Eberhard; Vorona, Elena


    Anabolic androgenic steroids (AASs) are appearance and performance-enhancing drugs (APEDs) used in competitive athletics, in recreational sports, and by body-builders. The global lifetime prevalence of AASs abuse is 6.4% for males and 1.6% for women. Many AASs, often obtained from the internet and dubious sources, have not undergone proper testing and are consumed at extremely high doses and in irrational combinations, also along with other drugs. Controlled clinical trials investigating undesired side effects are lacking because ethical restrictions prevent exposing volunteers to potentially toxic regimens, obscuring a causal relationship between AASs abuse and possible sequelae. Because of the negative feedback in the regulation of the hypothalamic-pituitary-gonadal axis, in men AASs cause reversible suppression of spermatogenesis, testicular atrophy, infertility, and erectile dysfunction (anabolic steroid-induced hypogonadism). Should spermatogenesis not recover after AASs abuse, a pre-existing fertility disorder may have resurfaced. AASs frequently cause gynecomastia and acne. In women, AASs may disrupt ovarian function. Chronic strenuous physical activity leads to menstrual irregularities and, in severe cases, to the female athlete triad (low energy intake, menstrual disorders and low bone mass), making it difficult to disentangle the effects of sports and AASs. Acne, hirsutism and (irreversible) deepening of the voice are further consequences of AASs misuse. There is no evidence that AASs cause breast carcinoma. Detecting AASs misuse through the control network of the World Anti-Doping Agency (WADA) not only aims to guarantee fair conditions for athletes, but also to protect them from medical sequelae of AASs abuse.

  7. Efficacy of estramustine phosphate sodium hydrate (EMP) monotherapy in castration-resistant prostate cancer patients: report of 102 cases and review of literature.

    Matsumoto, Kazuhiro; Tanaka, Nobuyuki; Hayakawa, Nozomi; Ezaki, Taisuke; Suzuki, Kenjiro; Maeda, Takahiro; Ninomiya, Akiharu; Nakamura, So


    This retrospective chart review study was conducted to evaluate the efficacy of estramustine phosphate sodium hydrate (EMP) monotherapy in patients with castration-resistant prostate cancer (CRPC) and to determine who would benefit from EMP therapy. EMP was administered at a daily dose of 560 mg to 102 patients as a third-line therapy, who had already received combined androgen blockade (CAB) and subsequent alternative antiandrogen therapy. The responses to EMP after its induction and its toxicity were evaluated. We also analyzed the association between the clinicopathological factors of the patients and their responses to EMP therapy. A reduction in the serum prostate-specific antigen (PSA) 4 weeks after induction was observed in 70 patients (68.6%), while 30 cases (29.4%) achieved more than 50% reduction of PSA. Long-term reduction of PSA from baseline for more than 6 months was observed in 31 patients (30.4%). EMP treatment was discontinued in 11 patients (10.8%) because of side effects (nausea in six patients, gynecomastia in three patients, eruption in one patient, and liver dysfunction in one patient). Multivariate analysis demonstrated that long duration of prior hormonal therapy was an independent favorable factor for reduced PSA levels, long responses, and overall survival. The data suggest that oral EMP administration as a third-line monotherapy is well tolerated and effective to some degree in patients with CRPC who have already received CAB and subsequent alternative antiandrogen therapy. Thus, EMP can be regarded as one treatment option, especially for patients whose prior duration of hormonal therapy was long.

  8. Topical minoxidil fortified with finasteride: An account of maintenance of hair density after replacing oral finasteride

    B S Chandrashekar


    Full Text Available Background: Finasteride acts by reducing dihydrotestosterone levels, thereby inhibiting miniaturization of hair follicles in patients with androgenetic alopecia (AGA. Oral finasteride is associated with side effects such as decreased libido, sexual dysfunction, and gynecomastia. Aim: The aim of the following study is to assess the efficacy of maintaining hair growth with 5% topical minoxidil fortified with 0.1% finasteride in patients with AGA after initial treatment with 5% topical minoxidil and oral finasteride for two years. Materials and Methods: A retrospective assessment was done in 50 male patients aged 20-40 years with AGA. All the patients had been initially treated with topical minoxidil and oral finasteride for a period of two years, after which the oral finasteride was replaced with topical minoxidil fortified with finasteride. Five of 50 patients had discontinued the treatment for a period of 8-12 months and were then resumed with only topical minoxidil fortified with finasteride. The patients′ case sheets and photographs were reviewed by independent observers and the efficacy of minoxidil-finasteride combination was assessed. Results: Of the 45 patients who underwent a continuous treatment for AGA, 84.44% maintained a good hair density with topical minoxidil-finasteride combinatio. Of the five patients who discontinued oral finasteride for 8-12 months, four demonstrated good improvement in hair density when treatment was resumed with topical minoxidil-finasteride combination. Conclusion: Topical finasteride can be considered for hair density maintenance after initial improvement with oral finasteride, thereby obviating the indefinite use of oral finasteride.

  9. Anal phyllodes tumor in a male patient: a unique case presentation and literature review


    Abstract Lesions of anogenital mammary-like glands are rare, and only 44 female cases have been reported. Herein, we describe a particularly rare case of phyllodes tumor of anogenital mammary-like glands in a 41-year-old male presenting anal bleeding. Papillectomy was performed. The excised tumor was circumscribed in shape, and after it was sliced into sections, it was noted that there were leaf-like slits on the surface of cut side. Under the microscope, the tumor was found to be biphasic, with a bland glandular epithelium and low-to-intermediate cellular stroma, which together created the leaf-like slits. Gynecomastoid hyperplasia was evident at the periphery. The epithelium showed immuno-activity for ER, PR(focal), AR, and GCDFP-15. The stromal cells showed positive staining for CD34 and vimentin. The morphology and immunophenotype were similar to benign phyllodes tumors of breast. To the best of our knowledge, this case report represents the first case of phyllodes tumor of anogenital mammary-like glands with gynecomastoid hyperplasia at the periphery in a male patient. To make a diagnosis, we had to differentiate this lesion from hidradenoma papilliferum of skin appendage, phyllodes tumor of ectopic prostatic tissue, and other tumors of anogenital mammary-like glands analogous to the breast tumor (e.g., fibroadenoma phyllodes, periductal stromal sarcoma, and spindle cell carcinoma). While gynecomastia of male breast is usually a result of hormone imbalance, our patient’s tumor did not seem to be related to peripheral hormone status in the anogenital mammary-like glands. Nevertheless, because hormone imbalance has been strongly related to male breast cancer, hormone levels may need to be followed in male patients who have this rare malady. Virtual slides The virtual slide(s) for this article can be found here: PMID:23531415

  10. Anal phyllodes tumor in a male patient: a unique case presentation and literature review.

    Ho, Szu-pei; Tseng, Hui-hwa; King, T M; Chow, Philip-C


    Lesions of anogenital mammary-like glands are rare, and only 44 female cases have been reported. Herein, we describe a particularly rare case of phyllodes tumor of anogenital mammary-like glands in a 41-year-old male presenting anal bleeding. Papillectomy was performed. The excised tumor was circumscribed in shape, and after it was sliced into sections, it was noted that there were leaf-like slits on the surface of cut side. Under the microscope, the tumor was found to be biphasic, with a bland glandular epithelium and low-to-intermediate cellular stroma, which together created the leaf-like slits. Gynecomastoid hyperplasia was evident at the periphery. The epithelium showed immuno-activity for ER, PR(focal), AR, and GCDFP-15. The stromal cells showed positive staining for CD34 and vimentin. The morphology and immunophenotype were similar to benign phyllodes tumors of breast. To the best of our knowledge, this case report represents the first case of phyllodes tumor of anogenital mammary-like glands with gynecomastoid hyperplasia at the periphery in a male patient. To make a diagnosis, we had to differentiate this lesion from hidradenoma papilliferum of skin appendage, phyllodes tumor of ectopic prostatic tissue, and other tumors of anogenital mammary-like glands analogous to the breast tumor (e.g., fibroadenoma phyllodes, periductal stromal sarcoma, and spindle cell carcinoma). While gynecomastia of male breast is usually a result of hormone imbalance, our patient's tumor did not seem to be related to peripheral hormone status in the anogenital mammary-like glands. Nevertheless, because hormone imbalance has been strongly related to male breast cancer, hormone levels may need to be followed in male patients who have this rare malady. The virtual slide(s) for this article can be found here:

  11. Eplerenone: a selective aldosterone receptor antagonist for hypertension and heart failure.

    Moore, Tera D; Nawarskas, James J; Anderson, Joe R


    Aldosterone has been implicated for many years as an important substance in the pathogenesis of heart disease. Elevated aldosterone concentrations have been documented in patients with hypertension and heart failure, leading to the use of aldosterone antagonists for the treatment of these conditions. Spironolactone has been used for nearly 2 decades for the treatment of hypertension, and more recently, has become a standard agent for the treatment of systolic heart failure. Spironolactone, however, is a nonselective antagonist of the aldosterone receptor, binding also to other steroid receptors and causing a significant percentage of patients to have sex hormone-related adverse effects such as gynecomastia. Eplerenone is the first of a new class of drugs known as selective aldosterone receptor antagonists, which selectively block the aldosterone receptor with minimal effect at other steroid receptors, thereby minimizing many of the hormonal side effects seen with spironolactone. Eplerenone has been shown to be beneficial both as monotherapy and combination therapy for lowering elevated blood pressure in patients with hypertension. The antihypertensive efficacy of eplerenone is roughly similar to that of other antihypertensive agents, although in 1 study black patients responded better with eplerenone than losartan. In addition, eplerenone has demonstrated some renoprotective effects in diabetic patients with hypertension. Recently, eplerenone was shown to significantly reduce mortality and cardiovascular morbidity in post-myocardial infarction patients with systolic heart failure currently taking standard heart failure medications. Eplerenone is generally well tolerated, although hyperkalemia with this agent is of some concern. Eplerenone is metabolized by CYP3A4 and administration with potent inhibitors of this enzyme is contraindicated because of the risk of hyperkalemia. In summary, eplerenone has proven to be beneficial in treating hypertension and post

  12. Digoxin use after diagnosis of breast cancer and survival: a population-based cohort study.

    Karasneh, Reema A; Murray, Liam J; Mc Menamin, Úna C; Hughes, Carmel M; Cardwell, Chris R


    Digoxin has been shown to have an estrogenic effect and is associated with increased risk of gynecomastia and estrogen-sensitive cancers such as breast and uterus cancer. These findings, particularly recent observations of increased breast cancer risk, raise questions about the safety of digoxin use in breast cancer patients. Therefore, we investigated whether digoxin use after breast cancer diagnosis increased the risk of breast cancer-specific mortality in breast cancer patients. A cohort of 17,842 breast cancer patients newly diagnosed from 1998 to 2009 was identified from English cancer registries (from the National Cancer Data Repository). This cohort was linked to the UK Clinical Practice Research Datalink (to provide digoxin and other prescription records) and to the Office of National Statistics mortality data (to identify breast cancer-specific deaths). Using time-dependent Cox regression models, unadjusted and adjusted hazard ratios (HR) and 95 % confidence intervals (CIs) were calculated for the association between post-diagnostic exposure to digoxin and breast cancer-specific and all-cause mortality. In 17,842 breast cancer patients, there were 2219 breast cancer-specific deaths. Digoxin users appeared to have increased breast cancer-specific mortality compared with non-users (HR 1.73; 95 % CI 1.39-2.15) but this association was entirely attenuated after adjustment for potential confounders (adjusted HR 0.91; 95 % CI 0.72-1.14). In this large population-based breast cancer cohort study, there was little evidence of an increase in breast cancer-specific mortality with digoxin use after diagnosis. These results provide some reassurance that digoxin use is safe in breast cancer patients.

  13. Identification of differentially expressed microRNAs in human male breast cancer

    Schipper Elisa


    Full Text Available Abstract Background The discovery of small non-coding RNAs and the subsequent analysis of microRNA expression patterns in human cancer specimens have provided completely new insights into cancer biology. Genetic and epigenetic data indicate oncogenic or tumor suppressor function of these pleiotropic regulators. Therefore, many studies analyzed the expression and function of microRNA in human breast cancer, the most frequent malignancy in females. However, nothing is known so far about microRNA expression in male breast cancer, accounting for approximately 1% of all breast cancer cases. Methods The expression of 319 microRNAs was analyzed in 9 primary human male breast tumors and in epithelial cells from 15 male gynecomastia specimens using fluorescence-labeled bead technology. For identification of differentially expressed microRNAs data were analyzed by cluster analysis and selected statistical methods. Expression levels were validated for the most up- or down-regulated microRNAs in this training cohort using real-time PCR methodology as well as in an independent test cohort comprising 12 cases of human male breast cancer. Results Unsupervised cluster analysis separated very well male breast cancer samples and control specimens according to their microRNA expression pattern indicating cancer-specific alterations of microRNA expression in human male breast cancer. miR-21, miR519d, miR-183, miR-197, and miR-493-5p were identified as most prominently up-regulated, miR-145 and miR-497 as most prominently down-regulated in male breast cancer. Conclusions Male breast cancer displays several differentially expressed microRNAs. Not all of them are shared with breast cancer biopsies from female patients indicating male breast cancer specific alterations of microRNA expression.

  14. El síndrome de Kallmann: A propósito de un caso.

    William Jubiz


    Full Text Available Kallmann’s syndrome is a type of hypogonadotropic hypogonadism which affects males and females and is characterized by eunuchoidal habitus, lack of sexual development, and anosmia, caused by a defective development of the olfactory bulbs. Cleft palate, deafness, seizures, short fourth metacarpal bones, cardiac abnormalities and gynecomastia may also occur. The mode of transmission can be autosomal dominant, autosomal recessive or X-linked. The latter is caused by mutations or deletions of the KAL gene which encodes the synthesis of anosmin-1, a protein associated with cellular adherence and antiprotease activity. The concentrations of testosterone, follicle stimulating hormone (FSH and luteinizing hormone (LH in serum is decreased, but they respond to the administration of the gonadotropin releasing hormone (GnRH. Infertility is treated with a combination of human chorionic gonadotropin (hCG and human menopausal gonadotropins (hMG. Androgen deficiency is corrected with testosterone in the form of parenteral enanthate (Testoviron depot® or undecanoate (Nebido®, patches (Androderm®, Testoderm® or gels (Androgel®, Testim®. Sriant SR® is absorbed through the oral mucosa and it appears to be effective and convenient. An 18 year-old male who consulted for sexual retardation is presented. He could not smell. Testes and penis were small and he had an eunuchoidal habitus. Serum testosterone, follicle stimulating (FSH and luteinizing (LH hormones were decreased with a subnormal response to gonadotropin-releasing hormone (GnRH. He responded to testosterone therapy with the development of axillary and pubic hair, increased penis size, and deepening of the voice.

  15. Mineralocorticoid receptor antagonists in heart failure with preserved ejection fraction (HFpEF).

    Capuano, Annalisa; Scavone, Cristina; Vitale, Cristiana; Sportiello, Liberata; Rossi, Francesco; Rosano, Giuseppe M C; Coats, Andrew J Stewart


    The role of spironolactone and eplerenone in patients with Heart Failure with preserved Ejection Fraction (HFpEF) is not well defined. Since a growing medical literature has suggested that mineralocorticoid receptor antagonists may be beneficial for patients with HFpEF, this review gives an in-depth update on the role of spironolactone and eplerenone and their implications for therapy in the setting of HFpEF. Eleven clinical studies, including seven randomized trials, were reviewed. Two randomized controlled trials evaluated the effect of eplerenone on different end-points, including 6 minute walk distance (6 MWD), cardiovascular mortality, non-fatal reinfarction, hospitalization for unstable angina and congestive heart failure. Eplerenone did not affect either 6 MWD or event-free survival rates in the overall study population in these two reports. The effects of spironolactone on similar composite endpoints were evaluated in 7 studies in patients with HFpEF. Compared to placebo, hospitalization for heart failure was significantly lower in the spironolactone group and spironolactone was also shown to improve diastolic function and induced beneficial remodeling through a reduction in myocardial fibrosis. The safety profile of spironolactone and eplerenone has been assessed in two recent studies. Data showed that eplerenone and spironolactone are both associated with the occurrence of gynecomastia, mastodynia, and abnormal vaginal bleeding and in addition, they can increase natriuresis and cause renal retention of potassium; furthermore, eplerenone may cause hyperkalemia and promote the onset of metabolic acidosis or hyponatremia. In conclusion although the mineralocorticoid receptor antagonists eplerenone and spironolactone improve clinical outcomes in patients with HFrEF, additional data will be necessary to better define their risk-benefit profile, especially for eplerenone, in the treatment of HFpEF.

  16. Exposure to phthalates: reproductive outcome and children health. A review of epidemiological studies.

    Jurewicz, Joanna; Hanke, Wojciech


    Phthalates are a family of industrial chemicals that have been used for a variety of purposes. As the potential consequences of human exposure to phthalates have raised concerns in the general population, they have been studied in susceptible subjects such as pregnant women, infants and children. This article aims at evaluating the impact of exposure to phthalates on reproductive outcomes and children health by reviewing most recent published literature. Epidemiological studies focusing on exposure to phthalates and pregnancy outcome, genital development, semen quality, precocious puberty, thyroid function, respiratory symptoms and neurodevelopment in children for the last ten years were identified by a search of the PubMed, Medline, Ebsco, Agricola and Toxnet literature bases. The results from the presented studies suggest that there are strong and rather consistent indications that phthalates increase the risk of allergy and asthma and have an adverse impact on children's neurodevelopment reflected by quality of alertness among girls, decreased (less masculine) composite score in boys and attention deficit hyperactivity disorder. Results of few studies demonstrate negative associations between phthalate levels commonly experienced by the public and impaired sperm quality (concentration, morphology, motility). Phthalates negatively impact also on gestational age and head circumference; however, the results of the studies were not consistent. In all the reviewed studies, exposure to phthalates adversely affected the level of reproductive hormones (luteinizing hormone, free testosterone, sex hormone-binding globulin), anogenital distance and thyroid function. The urinary levels of phthalates were significantly higher in the pubertal gynecomastia group, in serum in girls with premature thelarche and in girls with precocious puberty. Epidemiological studies, in spite of their limitations, suggest that phthalates may affect reproductive outcome and children health

  17. Prevalence of Cardiovascular Disease and Osteoporosis During Androgen Deprivation Therapy Prescription Discordant to EAU Guidelines: Results From a Multicenter, Cross-sectional Analysis From the CHOsIng Treatment for Prostate canCEr (CHOICE) Study.

    Morgia, Giuseppe; Russo, Giorgio Ivan; Tubaro, Andrea; Bortolus, Roberto; Randone, Donato; Gabriele, Pietro; Trippa, Fabio; Zattoni, Filiberto; Porena, Massimo; Mirone, Vincenzo; Serni, Sergio; Del Nero, Alberto; Lay, Giancarlo; Ricardi, Umberto; Rocco, Francesco; Terrone, Carlo; Pagliarulo, Arcangelo; Ludovico, Giuseppe; Vespasiani, Giuseppe; Brausi, Maurizio; Simeone, Claudio; Novella, Giovanni; Carmignani, Giorgio; Leonardi, Rosario; Pinnarò, Paola; De Paula, Ugo; Corvò, Renzo; Tenaglia, Raffaele; Siracusano, Salvatore; Mantini, Giovanna; Gontero, Paolo; Savoca, Gianfranco; Ficarra, Vincenzo


    To analyze the prevalence of cardiovascular disease (CVD) and osteoporosis in patients treated with androgen deprivation therapy (ADT) for prostate cancer (PCa) but not adherent to European Association of Urology (EAU) guidelines. The CHOosIng Treatment for Prostate CanCEr (CHOICE) study was an Italian multicenter, cross-sectional study conducted from December 2010 to January 2012. A total of 1386 patients treated with ADT for PCa (first prescription or renewal of ADT) were selected. According to EAU guidelines, the cohort was categorized in discordant ADT (Group A) and concordant ADT (Group B). The prevalence of CVD and osteoporosis after ADT was recorded. The final cohort included 1075 patients. According to EAU guidelines adherence, 285 (26.51%) and 790 (73.49%) were considered discordant and concordant, respectively. The proportion of men with Charlson Comorbidity Index  > 2 at baseline was statistically similar in Group A (81.8%) compared to Group B (80.8%) (P = .96). The number of complications reported at enrollment was as follows: cardiovascular in 351 (32.7%), endocrine in 166 (15.4%), sexual in 498 (46.3%), osteoporosis in 181 (16.8%), and gynecomastia in 274 (25.5%) subjects. At the multivariate logistic regression analysis adjusted for confounding factors, discordant ADT was associated with greater risk of cardiovascular complications (odds ratio: 2.07; P < .01) and osteoporosis (odds ratio: 1.75; P = .04). About one-third of patients with PCa received inappropriate ADT and showed a greater risk of CVD and osteoporosis. These results could be useful for setting better policy strategies to limit the inappropriateness of ADT prescription. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.

    Demura, Masashi; Martin, Regina M; Shozu, Makio; Sebastian, Siby; Takayama, Kazuto; Hsu, Wei-Tong; Schultz, Roger A; Neely, Kirk; Bryant, Michael; Mendonca, Berenice B; Hanaki, Keiichi; Kanzaki, Susumu; Rhoads, David B; Misra, Madhusmita; Bulun, Serdar E


    Production of appropriate quantities of estrogen in various tissues is essential for human physiology. A single gene (CYP19), regulated via tissue-specific promoters, encodes the enzyme aromatase, which catalyzes the key step in estrogen biosynthesis. Aromatase excess syndrome is inherited as autosomal dominant and characterized by high systemic estrogen levels, short stature, prepubertal gynecomastia and testicular failure in males, and premature breast development and uterine pathology in females. The underlying genetic mechanism is poorly understood. Here, we characterize five distinct heterozygous rearrangements responsible for aromatase excess syndrome in three unrelated families and two individuals (nine patients). The constitutively active promoter of one of five ubiquitously expressed genes located within the 11.2 Mb region telomeric to the CYP19 gene in chromosome 15q21 cryptically upregulated aromatase expression in several tissues. Four distinct inversions reversed the transcriptional direction of the promoter of a gene (CGNL1, TMOD3, MAPK6 or TLN2), placing it upstream of the CYP19 coding region in the opposite strand, whereas a deletion moved the promoter of a fifth gene (DMXL2), normally transcribed from the same strand, closer to CYP19. The proximal breakpoints of inversions were located 17-185 kb upstream of the CYP19 coding region. Sequences at the breakpoints suggested that the inversions were caused by intrachromosomal nonhomologous recombination. Splicing the untranslated exon downstream of each promoter onto the identical junction upstream of the translation initiation site created CYP19 mRNA encoding functional aromatase protein. Taken together, small rearrangements may create cryptic promoters that direct inappropriate transcription of CYP19 or other critical genes.

  19. Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

    Fukami, Maki; Shozu, Makio; Soneda, Shun; Kato, Fumiko; Inagaki, Akemi; Takagi, Hiroshi; Hanaki, Keiichi; Kanzaki, Susumu; Ohyama, Kenji; Sano, Tomoaki; Nishigaki, Toshinori; Yokoya, Susumu; Binder, Gerhard; Horikawa, Reiko; Ogata, Tsutomu


    Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown. The objective of the study was to examine the genetic causes and phenotypic determinants in AEXS. Eighteen affected males from six families participated in the study. We identified three types of heterozygous genomic rearrangements, i.e. a 79,156-bp tandem duplication involving seven of 11 noncoding CYP19A1 exons 1, a 211,631-bp deletion involving exons 2-43 of DMXL2 and exons 5-10 of GLDN, and a 165,901-bp deletion involving exons 2-43 of DMXL2. The duplicated exon 1 functioned as transcription start sites, and the two types of deletions produced the same chimeric mRNA consisting of DMXL2 exon 1 and CYP19A1 coding exons. The DMXL2 exon 1 harbored a translation start codon, and the DMXL2/CYP19A1 chimeric mRNA was identified in only 2-5% of CYP19A1-positive transcripts. This was in contrast to the inversion-mediated chimeric mRNA that had no coding sequence on the fused exon 1 and accounted for greater than 80% of CYP19A1-positive transcripts. CYP19A1 was expressed in a limited number of tissues, whereas its neighboring genes involved in the chimeric mRNA formation were expressed widely. This study provides novel mechanisms leading to gain of function of CYP19A1. Furthermore, it appears that clinical severity of AEXS is primarily determined by the tissue expression pattern of relevant genes and by the structural property of promoter-associated exons of chimeric mRNA.

  20. [Andrological status of adolescents and its connection to anthropometric and hormonal descriptions in the students of technical college group].

    Lutov, Iu V; Seliatitskaia, V G; Epanchintseva, E A; Riabichenko, T I


    The purpose of this investigation was to study the interrelation of andrological status with anthropometric and hormonal descriptions for age-specific features discovery of male sexual system pathological states at technical college students. 147 adolescents aged 15-17 years old were examined. Only 41 of them were found to have no abnormalities in their genital system development; in 35 adolescents sexual development was delayed; and 97 adolescents were found to have various andrological diseases (varicocele, phimosis, gynecomastia, testicular asymmetry, etc.) or clinical signs for development of these diseases. In 26 adolescences delayed sexual development was combined with the andrological pathology. The normal andrological status was usually accompanied with the highest frequency of low values of anthropometric indicators and indices that reflect the influence of various hormonal systems on the bodily constitution, as well as expressed anthropometricheterogeneity. In adolescents with andrological pathology or clinical signs for its development, in all anthropometric parameters the higher values were seen more frequently than low values against the background of highest group anthropometric homogeneity. Summative anthropometric characteristics of the adolescents group with delayed sexual development were between those of the adolescents groups with normal andrological status and andrological pathology The number of correlational relationships of anthropometric and hormonal indicators with the levels of cortisol and dehydroepiandrosteronesulphate was the lowest in the group of adolescents with normal andrological status as compared to their peers with delayed sexual development and andrological pathology. Only in the group of adolescents with normal andrological status the correlation analysis of data showed physiological influence of sexual hormones on anthropometric indicators. Thus, lower influence of sexual system hormones during this ontogenesis stage

  1. Designer steroids - over-the-counter supplements and their androgenic component: review of an increasing problem.

    Rahnema, C D; Crosnoe, L E; Kim, E D


    Colloquially referred to by various misleading monikers ('pro-hormones', 'natural steroids', 'testosterone boosters', etc.) designer anabolic steroids have been popular now for over a decade as a way to achieve classic anabolic steroid-like results from products sold in the legal marketplace. Recent evidence suggests that anabolic steroid use may be the most common cause of hypogonadism in men of reproductive age. Despite recent regulatory efforts that have banned specific compounds, many anabolic-androgenic steroids (AAS) remain available in over-the-counter dietary supplements that are legally sold in the United States. Severe side effects including hepatotoxicity, cholestasis, renal failure, hypogonadism, gynecomastia, and infertility have been reported secondary to the use of these products. While some of these side effects may be reversible, more aggressive use may result in more permanent end-organ damage as has been previously described for the case of aggressive AAS users (Rahnema et al., Fertil Steril, 2014). Designer AAS remain easily available for purchase in over-the-counter bodybuilding supplements and these products appear to be increasingly popular, despite the known health risks associated with their use. We conducted a systematic search to identify the designer steroids that are most commonly sold in dietary supplements as of April 2014 and review what is known regarding their potency and toxicity. We propose that the impact of AAS use on the reproductive and hormonal health of men is underestimated in the literature owing to previous studies' failure to account for designer steroid use. Lastly, we make clinical recommendations to help physicians steer patients away from potentially harmful supplements, and summarize key regulatory obstacles that have allowed potent androgens to remain unregulated in the legal marketplace.

  2. Long-term administration of mifepristone (RU486): clinical tolerance during extended treatment of meningioma.

    Grunberg, Steven M; Weiss, Martin H; Russell, Christy A; Spitz, Irving M; Ahmadi, Jamshid; Sadun, Alfredo; Sitruk-Ware, Regine


    Mifepristone (RU486) is an oral antiprogestational and, to a lesser extent, antiglucocorticoid agent commonly used for short-term (single-day) therapy. However, treatment of neoplasms or chronic conditions will require long-term administration. Meningioma is a benign central nervous system tumor that is often progesterone-but not estrogen-receptor positive, making long-term antiprogestational therapy a logical treatment strategy. Patients with unresectable meningioma were treated with oral mifepristone 200 mg/day. This dose was selected to provide significant antiprogestational but not antiglucocorticoid activity. Patients also received oral dexamethasone 1 mg/day for the first 14 days. Serial follow-up allowed evaluation for tolerability and side effects of long-term therapy as well as observation for efficacy (tumor shrinkage or improvement in visual fields). Twenty-eight patients received daily oral mifepristone for a total of 1,626 patient-months of treatment. The median duration of therapy was 35 months (range 2-157 months). Repeated oral administration was well tolerated with mild fatigue (22 patients), hot flashes (13 patients), and gynecomastia/breast tenderness (6 patients) being the most common side effects. However, endometrial hyperplasia or polyps were documented in 3 patients and one patient developed peritoneal adenocarcinoma after 9 years of therapy. Minor responses (improved automated visual field examination or improved CT or MRI scan) were noted in 8 patients, 7 of whom were male or premenopausal female. Long-term administration of mifepristone is feasible and clinically well tolerated, with generally mild toxicity. However, endometrial hyperplasia was noted in several patients. In view of the association between long-term treatment with tamoxifen (another agent that can induce an unopposed estrogen effect) and endometrial cancer, this observation will require further investigation and screening. Minor regression of meningioma that can result in

  3. Tratamento cirúrgico da ginecomastia com pedículos lateral e medial Surgical treatment of the gynecocomastia with lateral and medial pedicles

    Miguel Modolin


    ginecomastia, com média etária de 23,3 anos; sendo seis pacientes da raça negra. O bom posicionamento do complexo aréolo-mamilar e uma cicatriz periareolar resultante, bem como a retirada de conteúdo suficiente, foram as principais vantagens observadas. Como complicações, tivemos assimetria das placas aréolo-mamilares em dois casos, nos quais havia acentuada diferença entre os dois lados na avaliação pré-operatória; cicatrização hipertrófica em um paciente da raça negra, cuja cicatriz foi atenuada com injeções intracicatriciais de triancinolona; necrose parcial de aréola em um caso, cuja ferida cicatrizou por segunda intenção, dispensando qualquer tratamento local posterior; deiscência de sutura periareolar em um caso, no qual foi feita a ressutura, com bom resultado, e quatro pacientes apresentaram coleção sero-hemática subcutânea, que foram drenadas e não apresentaram recidiva.Gynecomastia is the growth of the male breast and it can appear in 65% of the patients between I3 and I6 years old. The most common causes are hepatitis or liver cirrosis, lung carcinoma or chronic inflammatory lung disease, testicular disfunction or carcinoma, endocrinologic tumors (pituitary or adrenal glands, alterations of the serum leves of testosterone, genetic syndromes (Klinefelter Syndrome, p.ex., drug abuse (heroine, marijuana or anabolic steroids and Hansen Disease. It can be classified according its volume, to the tissues that are enlarged (fat, glandular or both or to the surgical treatment that is required (small, moderate or severe. The treatment of the larger forms of gynecomastia is very different from that of the less severe forms. In the larger forms, beside the need of ressection of the glandular and/or fat tissues, the surgeon may have to ressec redundant skin and reposition the nipple-areola complex. This paper describes a specific surgical technique for this situation, by using two flaps based on lateral and medial pedicles, with 2cm thickness, that

  4. Radiotherapy for pituitary adenomas: long-term outcome and complications

    Rim, Chai Hong; Yang, Dae Sik; Park, Young Je; Yoon, Won Sup; Lee, Jung AE; Kim, Chul Yong [Korea University Medical Center, Seoul (Korea, Republic of)


    To evaluate long-term local control rate and toxicity in patients treated with external beam radiotherapy (EBRT) for pituitary adenomas. We retrospectively reviewed the medical records of 60 patients treated with EBRT for pituitary adenoma at Korea University Medical Center from 1996 and 2006. Thirty-fi ve patients had hormone secreting tumors, 25 patients had non-secreting tumors. Fifty-seven patients had received postoperative radiotherapy (RT), and 3 had received RT alone. Median total dose was 54 Gy (range, 36 to 61.2 Gy). The definition of tumor progression were as follows: evidence of tumor progression on computed tomography or magnetic resonance imaging, worsening of clinical sign requiring additional operation or others, rising serum hormone level against a previously stable or falling value, and failure of controlling serum hormone level so that the hormone level had been far from optimal range until last follow-up. Age, sex, hormone secretion, tumor extension, tumor size, and radiation dose were analyzed for prognostic significance in tumor control. Median follow-up was 5.7 years (range, 2 to 14.4 years). The 10-year actuarial local control rates for non-secreting and secreting adenomas were 96% and 66%, respectively. In univariate analysis, hormone secretion was significant prognostic factor (p = 0.042) and cavernous sinus extension was marginally significant factor (p = 0.054) for adverse local control. All other factors were not significant. In multivariate analysis, hormone secretion and gender were significant. Fifty-three patients had mass-effect symptoms (headache, dizziness, visual disturbance, hypopituitarism, loss of consciousness, and cranial nerve palsy). A total of 17 of 23 patients with headache and 27 of 34 patients with visual impairment were improved. Twenty-seven patients experienced symptoms of endocrine hypersecretion (galactorrhea, amenorrhea, irregular menstruation, decreased libido, gynecomastia, acromegaly, and Cushing

  5. Frequency of sexual dysfunction and other reproductive side-effects in patients with schizophrenia treated with risperidone, olanzapine, quetiapine, or haloperidol: the results of the EIRE study.

    Bobes, J; Garc A-Portilla, M P; Rejas, J; Hern Ndez, G; Garcia-Garcia, M; Rico-Villademoros, F; Porras, A


    Atypical antipsychotics seem to differ mainly in their tolerability profile. The aim of this cross-sectional study, the Estudio de Investigaci n de Resultados en Esquizofrenia (Outcomes Research Study in Schizophrenia; EIRE study), was to assess in a clinical setting the frequency of several side-effects related to haloperidol, risperidone, olanzapine, and quetiapine. This article addresses sexual dysfunction and other reproductive side-effects (gynecomastia, menorrhage, amenorrhea, and galactorrhea). We recruited outpatients diagnosed with schizophrenia according to Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; American Psychiatric Association, 1994) criteria and who had received a single antipsychotic (risperidone, olanzapine, quetiapine, or haloperidol) for at least 4 weeks. During a single visit, we collected data, including demographic and clinical characteristics, current antipsychotic and concomitant treatment, and adverse effects listed in a modified version of the UKU Scale. We used a Chi-squared test to determine pairs comparisons of the frequency of adverse reactions between treatments. To estimate risk of a given adverse reaction with a given treatment, we used a logistic regression method. We assessed 636 evaluable patients out of 669 recruited. Frequency of sexual dysfunction was high with haloperidol (38.1%) and also with olanzapine (35.3%), quetiapine (18.2%), and risperidone (43.2%). We found the frequency of other reproductive side-effects to be relatively low with all four drugs: haloperidol (6.9%), olanzapine (6.4%), quetiapine (2.7%), and risperidone (11.7%). Sexual dysfunction appeared to be dose-related with haloperidol, risperidone, and olanzapine. Risperidone and olanzapine showed a higher risk of sexual dysfunction and other reproductive sideeffects than haloperidol. Quetiapine showed a lower risk of sexual dysfunction during short-term treatment ( 12 weeks) are lacking. Our results suggest that none of the atypical

  6. Aromatase up-regulation, insulin and raised intracellular oestrogens in men, induce adiposity, metabolic syndrome and prostate disease, via aberrant ER-α and GPER signalling.

    Williams, Graeme


    -α activation and increases GPER activation, in combination with insulin, to cause aberrant downstream transduction signaling, and thus induce metabolic syndrome and mitogenic prostate growth. To understand this fact, that raised intracellular oestradiol levels in men, induce and promote obesity, gynecomastia, metabolic syndrome, type two diabetes, benign prostatic hypertrophy and prostate cancer, rather than low testosterone, represents a shift in medical thinking, a new awareness, that will reduce the rising incidence of obesity, metabolic syndrome and prostate disease, and significantly improve the health of men worldwide. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  7. Visual diagnosis of hematologic and oncologic diseases.

    Blackburn, P


    Cancer-related problems are seen frequently by the emergency physician. More difficult presentations are seen with premonitory symptoms, paraneoplastic syndromes, and nonspecific lesions. Dermatologic paraneoplastic syndromes are numerous, nonspecific, and consist of hamartomatous growths, texture changes, new hair growth, or changes in skin color. Alteration of skin color may be of practically any color, localized or diffuse, and of sudden or indolent onset. Hormone production by tumors may lead to acne, hirsutism, gynecomastia, or a cushingoid appearance. Pruritus may herald the onset of leukemia or lymphoma and be intolerable, as with erythroderma. All suspicious presentations require thorough investigation for underlying disease. Metastasis to skin is not common and implies a poor prognosis if seen. Most metastases are seen on the head and neck, anterior chest wall, and abdomen. Basal cell and squamous cell carcinomas commonly occur in sun-exposed areas. Basal cell is locally destructive, whereas squamous cell occasionally metastasizes to local lymph nodes. Malignant melanoma is the leading fatal illness originating in skin, with a dramatic rise in incidence. It is classically described as asymmetric with irregular borders, is elevated, and shows color variegation; however, melanoma may present atypically, particularly in non-whites. Kaposi's sarcoma lesions are well-demarcated, symmetric, smooth nodules that appear purplish-brown, particularly if below the knee (owing to venous stasis). The closely interrelated structures of the eye and orbit are easily disturbed, leading to the presenting symptoms of visual disturbances, exophthalmos, pain, and ocular motility disorders. Primary tumors are not unusual and may include retinoblastoma, rhabdomyosarcoma, and melanoma. Equally common are metastatic lesions, most commonly lung and breast carcinoma. An estimation of the malignancy of bony lesions can be made by assessing the zone of transition, periosteal reaction

  8. Progress in studies on hyperprolactinemia induced by antipsychotic drugs%抗精神病药物所致高催乳素血症的研究进展

    孙振晓; 于相芬


    Hyperprolactinemia is a common adverse effect of antipsychotic drugs. The clinical presentations of hyperprolactinemia are gynecomastia in men, and breast distending pain, galactorrhea, menstrual disturbance, sexual dysfunction, osteoporosis, and metabolic disturbance in women. The incidence of hyperprolactinemia is 25%-89%. The factors related to antipsychotic-induced hyperprolactinemia are gender, age, the type of antipsychotic drugs and dosage. The mechanism of antipsychotic-induced hyperprolactinemia may be related to blockade of dopamine D2 receptors on the anterior pituitary by antipsychotic drugs and reduction of dopamine inhibitory effect on prolactin secretion of prolactin cells, leading to prolactin elevation. Antipsychotic-induced hyperprolactinemia should be distinguished from hyperprolactinemia due to severe stress, depressive state, pregnancy, hypothyroidism, renal failure, pituitary tumor and ovarian disease. The treatment of antipsychotic-induced hyperprolactinemia includes discontinuing antipsychotic drugs, reducing antipsychotic drugs dosage, switching to a prolactin-sparing agent, prescribing a dopamine receptor agonist or Chinese herbal medicines, and using low-frequency repetitive transcranial magnetic stimulation.%催乳素升高是抗精神病药物常见的不良反应,临床表现为男性乳房女性化、女性乳房胀痛、溢乳、月经失调症状、性功能障碍、骨质疏松及代谢障碍等,发生率为25%~89%.抗精神病药物所致高催乳素血症(HPRL)的发生与性别、年龄、药物种类及剂量等相关.发病机制可能是抗精神病药物阻断垂体前叶D2受体而减弱多巴胺抑制泌乳素细胞分泌的作用,导致催乳素水平升高.抗精神病药物所致HPRL须与严重应激或抑郁状态、妊娠、甲状腺功能减退症、肾衰竭、垂体肿瘤及卵巢病变等进行鉴别诊断.抗精神病药物所致HPRL的治疗包括停用致病药物,降低药物剂量,换

  9. Anthropometric and Hormonal Risk Factors for Male Breast Cancer: Male Breast Cancer Pooling Project Results

    Brinton, Louise A.


    Background The etiology of male breast cancer is poorly understood, partly because of its relative rarity. Although genetic factors are involved, less is known regarding the role of anthropometric and hormonally related risk factors. Methods In the Male Breast Cancer Pooling Project, a consortium of 11 case–control and 10 cohort investigations involving 2405 case patients (n = 1190 from case–control and n = 1215 from cohort studies) and 52013 control subjects, individual participant data were harmonized and pooled. Unconditional logistic regression generated study design–specific (case–control/cohort) odds ratios (ORs) and 95% confidence intervals (CIs), with exposure estimates combined using fixed effects meta-analysis. All statistical tests were two-sided. Results Risk was statistically significantly associated with weight (highest/lowest tertile: OR = 1.36; 95% CI = 1.18 to 1.57), height (OR = 1.18; 95% CI = 1.01 to 1.38), and body mass index (BMI; OR = 1.30; 95% CI = 1.12 to 1.51), with evidence that recent rather than distant BMI was the strongest predictor. Klinefelter syndrome (OR = 24.7; 95% CI = 8.94 to 68.4) and gynecomastia (OR = 9.78; 95% CI = 7.52 to 12.7) were also statistically significantly associated with risk, relations that were independent of BMI. Diabetes also emerged as an independent risk factor (OR = 1.19; 95% CI = 1.04 to 1.37). There were also suggestive relations with cryptorchidism (OR = 2.18; 95% CI = 0.96 to 4.94) and orchitis (OR = 1.43; 95% CI = 1.02 to 1.99). Although age at onset of puberty and histories of infertility were unrelated to risk, never having had children was statistically significantly related (OR = 1.29; 95% CI = 1.01 to 1.66). Among individuals diagnosed at older ages, a history of fractures was statistically significantly related (OR = 1.41; 95% CI = 1.07 to 1.86). Conclusions Consistent findings across case–control and cohort investigations, complemented by pooled analyses, indicated important roles for

  10. Clinical and genetic analysis of a pedigree of Kennedy disease%肯尼迪病一家系临床特点及分子遗传学研究

    欧阳志远; 宋水江; 刘建仁; 张宝荣; 吴鼎文


    目的:报道一经基因诊断的肯尼迪病家系,探讨其临床特征和分子机制.方法:收集肯尼迪病患者家系的临床资料,用基因分析的方法,明确家系先证者雄激素受体(AR)基因第1号外显子CAG序列的重复数.结果:该家系有4例患者,临床特征为男性成年期发病,进行性四肢近端肌肉无力、萎缩,可伴乳房女性化、性功能减退,先证者经AR基因检测CAG重复数为51次,肌电图显示感觉、运动神经均受累,血清甘油三酯增高.结论:雄激素受体基因检测是诊断该病最可靠的方法,对怀疑为肯尼迪病的患者均应进行基因诊断.%Objective: To review the clinical and genetic features of a pedigree of Kennedy disease in China. Methods: The clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis. Results: In the pedigree ,4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia,oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly. Conclusion; Androgen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.

  11. The clinical , neurophysiological and neuropathological characteristics of Kennedy disease——attaching two patients diagnosed by genetic analysis%Kennedy病的临床、电生理及病理特征分析(附2例报道)

    汪仁斌; 刘尊敬; 董明睿; 郝莹; 汪伟; 毛坤; 孙少杰; 严莉


    Objective To discuss the clinical, neurophysiological and neuropathological characteristics of patients with Kennedy disease (KD). Methods Two patients with KD diagnosed by gene detection were reported, and their clinical features, the results of electromyography and nerve conduction study and the biopsy of sural nerve were analyzed. Results The symptoms of KD patients initiated in middle age, presented with a slow progression of lower motor neuron weakness and atrophy, involving bulbar and proximal limb muscles. Gynecomastia due to androgen insensitivity was probably the most common non-neurological manifestation, even though their sexual hormone levels were in normal range. There might be mild to severe hyper-CK-emia. Needle electromyography (EMG) showed extensive chronic denervation and reinnervation, nerve conduction studies revealed reduced sensory nerve action potential (SNAP) amplitudes, and abnormal H reflexes. There was a loss of large myelinated fiber in nerve biopsy. The number of CAG repeats for the coding region of androgen receptor gene exceeds 40. Conclusions There are relatively unique clinical, neurophysiological and neuropathological characteristics of KD. and its definite diagnosis should be made by genetic analysis.%目的 探讨Kennedy病的临床、神经电生理及病理特征.方法 报道2例经基因确诊的Kennedy病患者,分析其临床症状、体征、肌电图和神经传导检查和神经病理等特点.结果 两例患者均中年发病,进展缓慢.神经系统表现为以肢体近端无力和延髓受累为主的下运动神经元瘫痪.血清性激素水平正常,但有男性乳腺发育等雄激素功能低下表现.血清肌酸激酶轻度升高.肌电图呈广泛神经源性损害,神经传导检查提示感觉神经动作电位波幅减低,H反射异常,神经活检提示大的有髓纤维减少.雄激素受体基因编码区CAG重复数大于40.结论 Kennedy病有相对独特的临床、电生理及病理特征,确诊

  12. Extending the role of liposuction in body contouring with ultrasound-assisted liposuction.

    Rohrich, R J; Beran, S J; Kenkel, J M; Adams, W P; DiSpaltro, F


    The initial experience with ultrasound-assisted liposuction in treating difficult fibrous areas, such as gynecomastia, hitherto not uniformly responsive to traditional suction-assisted lipoplasty, has led to the evolution and improvement of ultrasound-assisted liposuction techniques. This prospective study examined 114 consecutive patients treated with ultrasound-assisted liposuction over a 13-month period, from September of 1996 to September of 1997. The means by which this procedure helps achieve fat contouring differs from that of suction-assisted lipoplasty. Ultrasound-assisted liposuction removes fat through a fat emulsification process termed "cavitation," whereas suction-assisted lipoplasty achieves contouring through the mechanical avulsion of fat. The technique for the use of ultrasound-assisted liposuction has changed significantly from our initial series of patients to our current technique. To optimize the benefits of both ultrasound-assisted and traditional suction-assisted lipoplasty, we use a three-stage technique consisting of infiltration, ultrasound-assisted sculpturing, and suction-assisted lipoplasty for evacuation and final contouring. This has decreased our operative time, minimized complications, and optimized our body contouring results. Data were collected intraoperatively, including treatment times, treatment volumes, and treatment areas for both suction-assisted and ultrasound-assisted lipoplasty. A total of 114 patients were treated with ultrasound-assisted liposuction between September of 1996 and September of 1997. There were 23 male patients and 91 female patients. In general, the average total volume removed with this procedure decreased by about 50 percent throughout the series, whereas the suction-assisted lipoplasty volume increased correspondingly by 50 percent. Overall, suction-assisted lipoplasty volume was approximately two times ultrasound-assisted liposuction volume in the same area. Exceptions to this include the dense

  13. The aging male project

    Farid Saad


    Full Text Available With an increasing life expectancy and a decreasing reproduction rate, the population structure changes. A Jenapharm R & D program investigates the endocrinology of aging men. In men, a decrease in production of sex steroids and other hormones with age can be observed. The typical patterns of daily rhythmicity become less distinct. This is part of a very complex picture in which not only isolated hormones are involved, but also the influence of hormones on each other. Many factors from the external and intemal environment mediated by neurotransmitters constantly affect the highly sensitive hormonal balance. Therefore, aging has also been defined as "the gradual dysfunction of homeostatic processes". Declining testosterone (T levels are involved in 'andropausal' symptoms in men: loss of libido, erectile dysfunction, insulin receptor resistance, obesity, osteoporosis, disturbances of lipid metabolism, myocardial and circulatory disturbances, impaired well-being and mood. Data are derived from studies in hypogonadal men treated by T replacement. In such parients under T treatment libido increases, fat mass decreases, muscle strenth, bone mineral density and erythropoesis increase. Whether the symptoms of andropause in aging men could successfully be treated by T substitution remains to be investigated. Negative effects of T, especially on the prostate and the cardiovascular system, are under discussion. There is increasing evidence that low T levels seem to be a risk factor for both the prostate and the cardiovascular system. Jenapharm's new testosterone undecanoate formulation for intramuscular injection can be administered every three months. T levels remain within the physiologic range. No supraphysiologic peaks occur. In women, estrogens have beneficial non-genital effects. Studies concentrate on synthetic estrogens for men without feminizing properties such as gynecomastia and reduced testicular size. Several derivatives of 17-

  14. Ancestry and pathology in King Tutankhamun's family.

    Hawass, Zahi; Gad, Yehia Z; Ismail, Somaia; Khairat, Rabab; Fathalla, Dina; Hasan, Naglaa; Ahmed, Amal; Elleithy, Hisham; Ball, Markus; Gaballah, Fawzi; Wasef, Sally; Fateen, Mohamed; Amer, Hany; Gostner, Paul; Selim, Ashraf; Zink, Albert; Pusch, Carsten M


    The New Kingdom in ancient Egypt, comprising the 18th, 19th, and 20th dynasties, spanned the mid-16th to the early 11th centuries bc. The late 18th dynasty, which included the reigns of pharaohs Akhenaten and Tutankhamun, was an extraordinary time. The identification of a number of royal mummies from this era, the exact relationships between some members of the royal family, and possible illnesses and causes of death have been matters of debate. To introduce a new approach to molecular and medical Egyptology, to determine familial relationships among 11 royal mummies of the New Kingdom, and to search for pathological features attributable to possible murder, consanguinity, inherited disorders, and infectious diseases. From September 2007 to October 2009, royal mummies underwent detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. Mummies distinct from Tutankhamun's immediate lineage served as the genetic and morphological reference. To authenticate DNA results, analytical steps were repeated and independently replicated in a second ancient DNA laboratory staffed by a separate group of personnel. Eleven royal mummies dating from circa 1410-1324 bc and suspected of being kindred of Tutankhamun and 5 royal mummies dating to an earlier period, circa 1550-1479 bc, were examined. Microsatellite-based haplotypes in the mummies, generational segregation of alleles within possible pedigree variants, and correlation of identified diseases with individual age, archeological evidence, and the written historical record. Genetic fingerprinting allowed the construction of a 5-generation pedigree of Tutankhamun's immediate lineage. The KV55 mummy and KV35YL were identified as the parents of Tutankhamun. No signs of gynecomastia and craniosynostoses (eg, Antley-Bixler syndrome) or Marfan syndrome were found, but an accumulation of malformations in Tutankhamun's family was evident. Several pathologies including Köhler disease

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

    Lisandro Hernández Madrazo


    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

  16. Improvement in hyperprolactinemia and reproductive comorbidities in patients with schizophrenia switched from conventional antipsychotics or risperidone to olanzapine.

    Kinon, Bruce J; Ahl, Jonna; Liu-Seifert, Hong; Maguire, Gerald A


    This open-label, prospective, 4-month study in hyperprolactinemic patients with schizophrenia explored whether prolactin levels decrease after switching antipsychotic therapy to olanzapine. A secondary objective was to determine if reproductive morbidities and sexual dysfunction occurring with hyperprolactinemia improved with prolactin normalization. Clinically stable patients with schizophrenia, who had hyperprolactinemia defined as >18.8 ng/ml for males and >24.2 ng/ml for females, were randomized to: remain on current therapy (n=27) or switch to olanzapine, 5-20 mg/day, (n=27). Baseline prolactin levels in female patients randomized to receive olanzapine (n=14) were 66.3+/-38.7 ng/ml and were 82.0+/-37.6 (p=.32) in those remaining on their pre-study antipsychotic medication (n=14). In male patients, baseline prolactin levels were 33.7+/-12.1 and 33.5+/-13.8 ng/ml (p=.97), respectively, for those randomized to olanzapine (n=13) or remaining on pre-study treatment (n=13). At study end, patients switched to olanzapine experienced significant reductions in mean serum prolactin levels of 19.8+/-18.1 ng/ml in males (p=.02), and 32.3+/-47.5 ng/ml in females (p=.01), but prolactin continued to be elevated in patients who remained on pre-study antipsychotic treatment. After switching to olanzapine treatment, male patients experienced significantly (p=.03) increased free testosterone levels but there were no significant improvements in total testosterone levels; some female patients experienced improved menstrual cycling, as well as resolution of galactorrhea and gynecomastia, and sexual functioning was significantly improved in both genders. Patients switched to olanzapine, as well as those remaining on their pre-study medication, maintained clinical stability, their symptoms continued to improve, although there were no significant between-treatment differences in improvement. Treatment-emergent adverse events did occur in both treatment groups; however, they were not

  17. Bitropic D3 Dopamine Receptor Selective Compounds as Potential Antipsychotics.

    Luedtke, Robert R; Rangel-Barajas, Claudia; Malik, Mahinder; Reichert, David E; Mach, R H


    Neuropsychiatric disorders represent a substantial social and health care issue. The National Institutes of Health estimates that greater than 2 million adults suffer from neuropsychiatric disorders in the USA. These individuals experience symptoms that can include auditory hallucinations, delusions, unrealistic beliefs and cognitive dysfunction. Although antipsychotic medications are available, suboptimal therapeutic responses are observed for approximately one-third of patients. Therefore, there is still a need to explore new pharmacotherapeutic strategies for the treatment of neuropsychiatric disorders. Many of the medications that are used clinically to treat neuropsychiatric disorders have a pharmacological profile that includes being an antagonist at D2-like (D2, D3 and D4) dopamine receptor subtypes. However, dopamine receptor subtypes are involved in a variety of neuronal circuits that include movement coordination, cognition, emotion, affect, memory and the regulation of prolactin. Consequently, antagonism at D2-like receptors can also contribute to some of the adverse side effects associated with the long-term use of antipsychotics including the a) adverse extrapyramidal symptoms associated with the use of typical antipsychotics and b) metabolic side effects (weight gain, hyperglycemia, increased risk of diabetes mellitus, dyslipidemia and gynecomastia) associated with atypical antipsychotic use. Preclinical studies suggest that D3 versus D2 dopamine receptor selective compounds might represent an alternative strategy for the treatment of the symptoms of schizophrenia. In this review we discuss a) how bitropic Nphenylpiperazine D3 dopamine receptor selective compounds have been developed by modification of the primary (orthosteric) and secondary (allosteric or modulatory) pharmacophores to optimize D3 receptor affinity and D2/D3 binding selectivity ratios and b) the functional selectivity of these compounds. Examples of how these compounds might be

  18. Aldosterone and aldosterone receptor antagonists in patients with chronic heart failure

    Nappi J


    Full Text Available Jean M Nappi, Adam SiegClinical Pharmacy and Outcome Sciences, South Carolina College of Pharmacy, Medical University of South Carolina Campus, Charleston, SC, USAAbstract: Aldosterone is a mineralocorticoid hormone synthesized by the adrenal glands that has several regulatory functions to help the body maintain normal volume status and electrolyte balance. Studies have shown significantly higher levels of aldosterone secretion in patients with congestive heart failure compared with normal patients. Elevated levels of aldosterone have been shown to elevate blood pressure, cause left ventricular hypertrophy, and promote cardiac fibrosis. An appreciation of the true role of aldosterone in patients with chronic heart failure did not become apparent until the publication of the Randomized Aldactone Evaluation Study. Until recently, the use of aldosterone receptor antagonists has been limited to patients with severe heart failure and patients with heart failure following myocardial infarction. The Eplerenone in Mild Patients Hospitalization and Survival Study in Heart Failure (EMPHASIS-HF study added additional evidence to support the expanded use of aldosterone receptor antagonists in heart failure patients. The results of the EMPHASIS-HF trial showed that patients with mild-to-moderate (New York Heart Association Class II heart failure had reductions in mortality and hospitalizations from the addition of eplerenone to optimal medical therapy. Evidence remains elusive about the exact mechanism by which aldosterone receptor antagonists improve heart failure morbidity and mortality. The benefits of aldosterone receptor antagonist use in heart failure must be weighed against the potential risk of complications, ie, hyperkalemia and, in the case of spironolactone, possible endocrine abnormalities, in particular gynecomastia. With appropriate monitoring, these risks can be minimized. We now have evidence that patients with mild-to-severe symptoms

  19. Síndrome de Klinefelter en las distintas edades: experiencia multicéntrica Klinefelter Syndrome at differents ages: multicentric experience

    N. Pacenza


    resto tuvo algún tipo de disfunción sexual. La testosterona total (TT fue normal en 45% de los pacientes, con descenso consistente con la edad, donde todos los pacientes mayores de 40 años presentaron TT subnormal. El 10,7% de los pacientes que efectuaron espermograma tuvo oligospermia severa, el resto presentó azoospermia. La densitometría ósea fue anormal en el 46,4% de los adultos estudiados. Sin embargo, no hubo diferencias significativas en la prevalencia de osteopenia y osteoporosis entre los pacientes con TT normal o subnormal.Klinefelter syndrome (KS is the most common chromosomal aberration among men, with an estimated prevalence of 1:600 newborns. It is an X chromosome polysomy, with X disomy being the most common variant (47,XXY. The aim of this study was to establish the characteristics of KS presentation at different ages, including signs and symptoms, laboratory parameters and other diagnostic tests. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. While mean prepubertal height was not different from the control population, it was significantly higher at puberty. Patients consulted most frequently for small testes, infertility and cryptorchidism. In four cases the diagnosis was prenatal. 50% of our patients younger than 18 years presented neurocognitive disorders. The more frequent clinical findings were cryptorchidism in prepubertal patients; small testes, cryptorchidism and gynecomastia in pubertal patients. All our patients in Tanner stage III or more presented small testes. FSH and LH levels were normal in prepubertal patients and increased abnormally at puberty. On the other hand, most adults consulted for small testes, infertility and gynecomastia. 43.6% of patients had decreased libido, sexual and/or ejaculatory dysfunction. In adults average height (178.8 ± 9.0 cm and weight (83.6 ± 21.0 kg, were

  20. 肯尼迪病患者27例临床特征%The clinical features of 27 patients with Kennedy's disease

    鲁明; 樊东升; 张俊; 张华纲; 康德瑄; 赵海燕; 张楠


    目的 分析27例肯尼迪病患者的临床特征,以加强对该病的认识.方法 收集基因确诊的27例肯尼迪病患者的临床资料,分析其临床特点及血清性激素及各生化指标水平.结果 肯尼迪病患者均中年发病,进展缓慢.神经系统表现为以肢体和延髓部受累为主的下运动神经元瘫痪.运动功能损害较轻,运动功能损害程度与疾病病程相关(r=0.77,P=0.000).虽然血清性激素水平正常,但部分患者可出现男性乳腺发育或性功能减退等雄性激素功能低下症状.患者的肌酸激酶[(920.10±495.54)U/L]、甘油三酯[(3.27±2.78)mmol/L]轻度增高,与健康者均值(107.20 U/L,1.40 mmol/L)相比差异有统计学意义(t=7.517,P=0.000;t=2.687,P=0.017).结论 我国肯尼迪病患者的临床特征与国外文献报道基本一致,但也有一些独特之处,如血清甘油三酯水平增高等.%Objective To analyze the clinical features of 27 Chinese patients with Kennedy's disease(KD), a sex-linked inheritance disorder. Methods We collected the clinical data of 27 KD patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones and biochemical indicators. Results Patients with spinal and bulhar muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. Part of the invalids presented signs of androgen insensitivity such as gynecomastia or reduced sexual function, even though their degrees of sex hormones were normal. There was mild motor functional lesion which correlated with the course of the disease ( r = 0. 77, P = 0. 000). The degrees of creatine kinase ( ( 920. 10 ± 495.54 ) U/L ) and triglyceride ( ( 3.27 ± 2. 78) mmool/L) increased mildly and was significantly different from the levels of healthy ones (107.20 U/L,t =7.517,P =0.000;1.40 mmol/L, t =2.687,P =0.017). Conclusions Basically

  1. An open label, dose response study to determine the effect of a dietary supplement on dihydrotestosterone, testosterone and estradiol levels in healthy males

    Anderson Mark L


    Full Text Available Abstract Background Maintaining endogenous testosterone (T levels as men age may slow the symptoms of sarcopenia, andropause and decline in physical performance. Drugs inhibiting the enzyme 5α-reductase (5AR produce increased blood levels of T and decreased levels of dihydrotestosterone (DHT. However, symptoms of gynecomastia have been reported due to the aromatase (AER enzyme converting excess T to estradiol (ES. The carotenoid astaxanthin (AX from Haematococcus pluvialis, Saw Palmetto berry lipid extract (SPLE from Serenoa repens and the precise combination of these dietary supplements, Alphastat® (Mytosterone(™, have been reported to have inhibitory effects on both 5AR and AER in-vitro. Concomitant regulation of both enzymes in-vivo would cause DHT and ES blood levels to decrease and T levels to increase. The purpose of this clinical study was to determine if patented Alphastat® (Mytosterone(™ could produce these effects in a dose dependent manner. Methods To investigate this clinically, 42 healthy males ages 37 to 70 years were divided into two groups of twenty-one and dosed with either 800 mg/day or 2000 mg/day of Alphastat® (Mytosterone(™ for fourteen days. Blood samples were collected on days 0, 3, 7 and 14 and assayed for T, DHT and ES. Body weight and blood pressure data were collected prior to blood collection. One-way, repeated measures analysis of variance (ANOVA-RM was performed at a significance level of alpha = 0.05 to determine differences from baseline within each group. Two-way analysis of variance (ANOVA-2 was performed after baseline subtraction, at a significance level of alpha = 0.05 to determine differences between dose groups. Results are expressed as means ± SEM. Results ANOVA-RM showed significant within group increases in serum total T and significant decreases in serum DHT from baseline in both dose groups at a significance level of alpha = 0.05. Significant decreases in serum ES are reported for the 2000

  2. X-linked spinal and bulbar muscular atrophy (Kennedy's disease with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy com seguimento eletrofisiológico de longo prazo: relato de caso

    João Aris Kouyoumdjian


    Full Text Available X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND, who presented acute and reversible left vocal fold (dysphonia and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34. Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy é uma neuronopatia motora em adultos causada por expansões na repetição CAG no gene do receptor andrógeno. Neste relato, descreve-se o caso de homem de 66 anos, com diagnóstico prévio de doença do neurônio motor (DNM que apresentou quadro agudo e reversível de paresia de prega vocal (disfonia e de músculos faríngeos à esquerda; posteriormente seguiram-se surtos de fraqueza lentamente progressiva, atrofia e fasciculações em língua, masseter, face, faringe e membros superiores predominantemente proximal, associada a tremor

  3. Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo X (doença de Kennedy: estudo de uma família X-linked recessive bulbospinal muscular atrophy (Kennedy's disease: study of a family



    Full Text Available A doença de Kennedy (DK é forma rara de doença do neurônio motor caracterizada por mutação na região codificadora do gene do receptor androgênico localizado no braço longo do cromossoma X (Xq 11-12. Há expansão das sequências de trinucleotídeos CAG que nos pacientes deve atingir número maior do que 347 repetições de pares de bases. Apresentamos quatro gerações de uma família com dez indivíduos acometidos. Avaliamos três pacientes do sexo masculino com idade variando entre 50 e 60 anos que desenvolveram sintomatologia por volta de 30 anos de idade caracterizada por fraqueza muscular progressiva associada a disfagia e disartria. O exame demonstrou ginecomastia, atrofia testicular, amiotrofia, fasciculações, paresia, abolição de reflexos e tremor postural. A análise do DNA pela técnica do PCR demonstrou número de repetições CAG aumentado no locus Xq 11-12 nos três pacientes e em uma mulher assintomática da família. Demonstramos a primeira família brasileira com diagnóstico de DK através de genética molecular. A DK deve fazer parte do diagnóstico diferencial das doenças do neurônio motor e a identificação destes pacientes é importante para o prognóstico e para o aconselhamento genético.Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X cromossome (Xq 11-12 with expanded CAG triplets (more than 347 repeats. We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in

  4. Investigation of a family with Kennedy disease by genetic analysis%基因检测确诊一例肯尼迪病及其家系的调查分析

    范润萍; 张龙一; 张杰; 邵蓓; 潘东波; 吕建新


    Objective To report on a Chinese family from Wenzhou with genetically confirmed Kennedy disease and describe its clinical and genetic features.Methods The clinical phenotype and the level of relevant biochemical markers were assessed.To determine the number of CAG repeats in the exon 1 of androgen receptor (AR) gene,genomic DNA was extracted from peripheral blood samples of the family members,amplified by PCR and identified by DNA sequencing.Results The proband showed predominantly proximal limb weakness,fasciculation,muscle atrophy,gynecomastia,sexual dysfunction and increased serum creatine kinase.Myopathy and neuropathy were identified by electromyography.Two other affected males and 2 affected female carriers were identified to carry an expanded CAG repeat in the AR gene.The numbers of CAG repeats were found to be 43 in the proband,43 and 42 in the other two affected males,one of which had similar clinical symptoms to the proband.Conclusion The family was diagnosed with Kennedy disease by analysis of the AR gene.%目的 对1例临床疑似肯尼迪病的患者及其家系成员进行雄激素受体基因(androgen receptor,AR)变异分析以明确病因,并阐明其临床特征和分子生物学特点.方法 收集患者的临床资料,对患者及其家系共7名成员的AR基因第1外显子CAG重复序列进行基因检测,同时检测相关生化指标,分析临床表型.结果 先证者进行性四肢近端肌肉无力、震颤、萎缩,伴乳房女性化、性功能减退、肌酶增高;肌电图显示感觉、运动神经均受累.经基因检测检出先证者AR基因CAG重复数为43,两名女性成员等位基因上的CAG重复数分别为22/43和23/43,另有两名男性成员CAG重复数分别为42和43,其中一名成年男性有与先证者类似的临床症状.结论 经基因检测疑似患者确诊为肯尼迪病,家系中发现另外两名男性受累者和两名女性携带者.

  5. Childhood obesity, adipose tissue distribution, and the pediatric practitioner.

    Slyper, A H


    The prevalence of pediatric obesity is increasing in the United States. Sequelae from pediatric obesity are increasingly being seen, and long-term complications can be anticipated. Obesity is the most common cause of abnormal growth acceleration in childhood. Obesity in females is associated with an early onset of puberty and early menarche. Puberty is now occurring earlier in females than in the past, and this is probably related either directly or indirectly to the population increase in body weight. The effect of obesity on male pubertal maturation is more variable, and obesity can lead to both early and delayed puberty. Pubertal gynecomastia is a common problem in the obese male. Many of the complications of obesity seen in adults appear to be related to increased accumulation of visceral fat. It has been proposed that subcutaneous fat may be protective against the adverse effects of visceral fat. Males typically accumulate fat in the upper segment of the body, both subcutaneously and intraabdominally. In females, adiposity is usually subcutaneous and is found particularly over the thighs, although visceral fat deposition also occurs. Gender-related patterns of fat deposition become established during puberty and show significant familial associations. There are no reliable means for assessing childhood and adolescent visceral fat other than radiologically. Noninsulin-dependent diabetes is being seen more commonly in the pediatric population. Diabetes and impaired glucose tolerance are noted particularly in obese children with a family history of diabetes. In this situation, a glucose tolerance test may be indicated, even in the presence of fasting normoglycemia. Hypertriglyceridemia and low high-density lipoprotein-cholesterol levels are the primary lipid abnormalities of obesity and are related primarily to the amount of visceral fat. Low-density lipoprotein-cholesterol levels are not typically elevated in simple obesity. The offspring of parents with early

  6. Beneficial long-term effect of aldosterone antagonist added to a traditional blockade of the renin-angiotensin-aldosterone system among patients with obesity and proteinuria.

    Morales, Enrique; Gutiérrez, Eduardo; Caro, Jara; Sevillano, Angel; Rojas-Rivera, Jorge; Praga, Manuel


    the obesity group experienced gynecomastia. The incidence of hyperkalemia was similar for the 2 groups (6.3%). Aldosterone antagonist treatment in obese patients with proteinuric nephropathies induces a drastic and sustained reduction in proteinuria but not more than the non-obese group. There was a trend toward slowing progression of renal failure with few adverse events. Copyright © 2015 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.

  7. The clinical and electrophysiological features of patients with spinal and bulbar muscular atrophy%脊髓延髓肌萎缩症临床及电生理特点分析

    陈海; 笪宇威; 李韵; 张新卿; 贾建平


    Objective To analyze the clinical features of 5 Chinese patients with spinal and bulbar muscular atrophy ( SBMA ), a sex-linked inheritance disorder. Methods We collected the clinical data of 5 SBMA patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones, CSF, biochemical indicators and electromyogram. Results Patients with spinal and bulbar and muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. There was mild motor functional lesion. Part of the invalids presented signs of androgen insensitivity such as gynecomastia, the level of testosterone were increased. CAG were 43-51 ( mean 47. 2 ±3. 6). The degrees of creatine kinase( 481. 8 ±264. 8 IU/L ) were increased mildly. CSF were normal. Electromyogram had generally changes derived from lower motor neuron. Conclusions Basically, the clinical features of Chinese SBMA patients presents adult onset, slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones.%目的 分析5例脊髓延髓肌萎缩症患者的临床特征,以便临床医生对该病的认识.方法 收集基因确诊的5例脊髓延髓肌萎缩症患者的临床资料,分析其临床特点及血清性激素、各生化指标水平、脑脊液及肌电图特点.结果 脊髓延髓肌萎缩症患者青年发病,病情进展缓慢.神经系统表现为以肢体近端和延髓部受累为主的瘫痪.舌肌受累较早,运动功能损害较轻.血清睾酮(969.3±234.9ng/dl)、雌二醇(57.1±5.3pg/ml)水平增高,男性乳腺发育出现在病史较长的患者.三核苷酸(CAG)重复序列数目43~51(平均47.2±3.6pg/ml).患者的肌酸激酶(CK,481.8±264.8 IU/L)均增高,脑脊液检查均正常.肌电图为广泛神经源性损害.结论 脊髓延髓肌萎缩症患者的早期症状不典型,易误诊,临床特征为青年起

  8. Tumescent liposuction: standard guidelines of care.

    Mysore, Venkataram


    , severe coagulation disorders including thrombophilia, and during pregnancy. Physical evaluation should be detailed and should include assessment of general physical health to determine the fitness of the patient for surgery, as well as the examination of specific sites that need liposuction to check for potential problems. The patient should sign a detailed consent form listing details about the procedure and possible complications. The consent form should specifically state the limitations of the procedure and should mention whether more procedures are needed for proper results. The patient should be provided with adequate opportunity to seek information through brochures, computer presentations, and personal discussions. Preoperative laboratory studies to be performed include Hb%, blood counts including platelet counts, bleeding and clotting time (or prothrombin and activated partial thromboplastin time) and blood chemistry profile; ECG is advisable. Liver function tests, and pregnancy test for women of childbearing age are performed as mandated by the individual patient's requirements. Ultrasound examination is recommended in cases of gynecomastia. Preoperative antibiotics and non-sedative analgesics such as paracetamol are recommended. The choice of antibiotic and analgesic agents depends on the individual physician's preference and the prevailing local conditions. Lidocaine is the preferred local anesthetic; its recommended dose is 35-45 mg/kg and doses should not exceed 55 mg/kg wt. The recommended concentration of epinephrine in tumescent solutions is 0.25-1.5 mg/L. The total dosage of epinephrine should be minimized and should not exceed 50 microg/kg. t is always advisable not to combine liposuction with other procedures to avoid exceeding the recommended dosage of lignocaine. However, such combinations may be attempted if the total required dose of lignocaine does not exceed the maximum dose indicated above. The recommended cannula size for liposuction is not to

  9. Klinefelter's syndrome presenting with leg ulcers.

    De Morentin, Helena Martinez; Dodiuk-Gad, Roni P; Brenner, Sarah


    A 54-year-old man of Persian origin presented to our department with a 1-year history of ulcers on the right leg that had been unresponsive to numerous topical treatments, accompanied by lymphedema of the right leg. Medical history included hypergonadotropic hypogonadism, which had not been further investigated. He was treated for 20 years with testosterone IM once monthly, which he stopped a year before the current hospitalization for unclear reasons. The patient reported no congenital lymphedema. Physical examination revealed two deep skin ulcers (Figure 1) on the right leg measuring 10 cm in diameter with raised irregular inflammatory borders and a boggy, necrotic base discharging a purulent hemorrhagic exudate. Bilateral leg pitting edema and right lymphangitis with lymphadenitis were noted. He had low head hair implantment, sparse hair on the body and head, hyperpigmentation on both legs, onychodystrophia of the toenails (mainly the large toe and less prominent on the other toes), which was atrophic lichen-planus-like in appearance and needed no trimming (Figure 2), normal hand nails, oral thrush, and angular cheilitis. Other physical findings were gynecomastia, pectus excavatum, small and firm testicles, long extremities, asymmetrical goiter, systolic murmur 2/6 in left sternal border, and slow and inappropriate behavior. The patient's temperature on admission was 39 degrees C. Blood cultures were negative for bacterial growth. Results of laboratory investigations included hemoglobin (11.2 g/dL), hematocrit (26.8%), normal mean corpuscular volume and mean corpuscular hemoglobin volume, and red blood cell distribution width (16%). Blood smear showed spherocytes, slight hypochromia, anisocytosis, macrocytosis, and microcytosis. Blood chemistry values were taken for iron (4 micro g/dL [normal range 40-150 micro g/dL]), transferrin (193 mg/dL [normal range 220-400 mg/dL]), ferritin (1128 ng/mL [normal range 14-160 ng/mL]), transferrin saturation (1.5% [normal

  10. Comparative study of intermittent versus continuous androgen blockade in the treatment of prostate cancer%间歇性与持续性雄激素阻断治疗前列腺癌的临床对照研究

    朱绍兴; 陈剑晖; 李永生; 王彬; 李启镛


    目的 比较间歇性雄激素阻断(IAD)与持续性雄激素阻断(CAD)治疗前列腺癌(PCa)的疗效及不良反应. 方法 44例PCa患者,均经前列腺穿刺活检病理确诊.分2组:①21例行IAD治疗,T2 7例、T3 9例、T4 5例,骨转移者8例.采用戈舍瑞林联合比卡鲁胺行最大限度雄激素阻断(MAB)治疗,当血清PSA下降至10.0 ng/ml或与PCa相关的临床症状明显加重且影像学检查提示PCa病灶进展时,则结束间歇期开始下一周期的治疗.②23例行CAD治疗,T2 7例、T3 12例、T4 4例,骨转移者11例.采用戈舍瑞林联合比卡鲁胺行MAB治疗,持续用药.比较2组患者疾病进展时间、生活质量及不良反应发生情况. 结果 IAD组和CAD组患者的中位疾病进展时间分别为(36±4)和(30±4)个月,2组间比较差异无统计学意义(P=0.132).IAD组患者平均治疗周期为(15.9±2.3)个月,其中治疗期(8.6±1.5)个月、间歇期(7.3±0.8)个月.IAD组患者治疗期和间歇期的治疗相关症状评分为(55.9±16.8)分和(47.9±19.7)分,二者比较差异有统计学意义(P=0.007);治疗期和间歇期骨痛、尿路及肠道症状评分比较,差异均无统计学意义(P>0.05).CAD组患者以接受MAB治疗6个月后的首次生活质量评分为基础参考值,继续治疗5个月后,尿路症状评分明显增加(P=0.023),但骨痛、肠道症状、治疗相关症状评分无明显改变(P>0.05).IAD组潮热和乳房肿痛的发生率分别为28.6%(6/21)和19.0%(4/21),CAD组分别为60.9%(14/23)和52.2%(12/23),2组间比较差异有统计学意义(P 0.05). The urinary symptom scores after 5 months of continuing treatment in groug CAD was signifi-cantly higher than the basis reference value which was obtained in the sixth month of initial treatment(P=0. 023), but there was no significant changes in the scores of bone pain, intestinal symptoms and symptoms related to treatment(P>0.05). The incidences of hot flash and gynecomastia were 28.6% (6/21) and 19.0%(4/21) in

  11. Tumescent liposuction: Standard guidelines of care

    Mysore Venkataram


    procedures. Liposuction is contraindicated in patients with severe cardiovascular disease, severe coagulation disorders including thrombophilia, and during pregnancy. Physical evaluation should be detailed and should include assessment of general physical health to determine the fitness of the patient for surgery, as well as the examination of specific sites that need liposuction to check for potential problems. Preoperative Informed consent : The patient should sign a detailed consent form listing details about the procedure and possible complications. The consent form should specifically state the limitations of the procedure and should mention whether more procedures are needed for proper results. The patient should be provided with adequate opportunity to seek information through brochures, computer presentations, and personal discussions. Preoperative laboratory studies to be performed include Hb%, blood counts including platelet counts, bleeding and clotting time (or prothrombin and activated partial thromboplastin time and blood chemistry profile; ECG is advisable. Liver function tests, and pregnancy test for women of childbearing age are performed as mandated by the individual patient′s requirements. Ultrasound examination is recommended in cases of gynecomastia. Preoperative medication : Preoperative antibiotics and non-sedative analgesics such as paracetamol are recommended. The choice of antibiotic and analgesic agents depends on the individual physician′s preference and the prevailing local conditions. Type of anesthetic employed : Lidocaine is the preferred local anesthetic; its recommended dose is 35-45 mg/kg and doses should not exceed 55 mg/kg wt. The recommended concentration of epinephrine in tumescent solutions is 0.25-1.5 mg/L. The total dosage of epinephrine should be minimized and should not exceed 50 µg/kg. Surgical technique/procedure It is always advisable not to combine liposuction with other procedures to avoid exceeding the recommended dosage

  12. Riscos cardiovasculares do bloqueio androgênico Riesgos cardiovasculares del bloqueo androgénico Cardiovascular risks of androgen deprivation therapy

    Adriano Freitas Ribeiro


    bien conocidas. Recientemente, una serie de complicaciones metabólicas fue descripta como aumento de la circunferencia abdominal, resistencia a la insulina, hiperglicemia, diabetes, dislipidemia y síndrome metabólico con consecuente aumento del riesgo de eventos coronarios y mortalidad cardiovascular en esa población específica. Este artículo de actualización presenta una revisión bibliográfica realizada en el MEDLINE de toda literatura publicada en inglés en el período de 1966 hasta junio de 2009, con las siguientes palabras-clave: androgen deprivation therapy, androgen supression therapy, hormone treatment, prostate cancer, metabolic syndrome y cardiovascular disease, con el propósito de analizar cuales serían los reales riesgos cardiovasculares de la terapia de deprivación androgénica, también llamada bloqueo androgénico, en los pacientes con cáncer de próstata.Prostate adenocarcinoma is the most common cancer type in the male sex after skin cancer. Among the several types of treatment for prostate cancer, the androgen deprivation therapy has been highly recommended in patients with metastatic or locally advanced disease, which probably results in increased survival. However, the androgen deprivation is the cause of several adverse effects. Complications such as osteoporosis, sexual dysfunction, gynecomastia, anemia and body composition alterations are well-known effects of the therapy. Recently, a number of metabolic complications have been described, such as increase in the abdominal circumference, insulin resistance, hyperglycemia, diabetes, dyslipidemia and metabolic syndrome, with a consequent increase in the risk of coronary events and cardiovascular mortality in this specific population. This update article presents a literature review carried out at MEDLINE database of all literature published in English from 1966 to June 2009, using the following key words: androgen deprivation therapy, androgen suppression therapy, hormone treatment

  13. 甲氧氯普胺儿童安全性评价%A review on safety of metoclopramide in children

    张智慧; 张伶俐; 张永军; 万朝敏; 梁毅; 黄亮; 全淑燕; 胡志强


    involving metoclopramide treament in children were searched at PubMed,Embase, Cochrane Library,CNKI,VIP,and Wanfang Database from inception to September 2014. Adverse drug reaction information bulletins and pharmacovigilance information related to metoclopramide were searched from China Food and Drug Administration(CFDA),US FDA,Health Canada,and European Medicines Agency(EMA). The relationship between the adverse reactions and metoclopramide were evaluated using evaluation criteria of WHO and the characteristics of adverse reactions were descriptively analyzed. Results A total of 54 articles in accordance with inclusion criteria were entered in this study. No RCT was included. A total of 646 cases of adverse reactions were reported in the 54 articles. Of them,42 cases of adverse reactions in the 29 case reports were reported and 604 cases in the 25 case series reports were reported. In the 646 children,352 cases were males and 284 were females with ages from 2 months to 18 years old,of them,174 cases(26. 9% )were 14 years. Among the 42 cases of adverse reactions, 29 cases had extrapyramidal reactions;4 cases had gynecomastia;2 cases had nausea syndrome and apnoea, respectively;1 case had hyperaldosteronism,skin rashes,blood pressure increase,and circulatory failure, respectively;39 cases were cured,2 cases were improved but sequelae remained,and 1 case was transferred to other hospital for treatment. All adverse reactions among the 604 cases of adverse drug reactions in the 25 case series reports were extrapyramidal reactions,all patients were cured without sequela. It was reported that 16 cases of 58 cases with adverse reactions in 2008 CFDA Bulletins were children. In 2011 and 2009, the FDA and Health Canada warned that long-term or large doses of metoclopramide could cause tardive dyskinesia. In 2013,the EMA recommended that metoclopramide was limited to short-term use(≤5 d), should not be applied to children under 1 year of age and only as second-line drugs for the

  14. Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene%特发性低促性腺激素性性腺功能减退症临床特点及KAL1与FGFR1基因突变分析

    秦淼; 巩纯秀; 齐展; 吴迪; 刘敏; 谷奕; 曹冰燕; 李文京; 梁学军


    Objective 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.Method 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.Result 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 7cases 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 delayed