Pathology galactorrhea. Dynamic tests of prolactin secretion evaluation and the adenohypophyseal functional reserve

International Nuclear Information System (INIS)

Oliveira, B.C. de.

1979-01-01

Stimulus and supression tests of prolactin secretion and reserve evaluation of others hypophyseal trophin in thirty-seven patients, of feminine sex with galactorrhea and twelve normal volunteers with the objective of determinate the validity for etiologic diagnostic of pathologic galactorrhea are described. Simple radiography of brain and sella turcica on anteroposterior incidence and profile followed by plane tomography in all patients with pathological galactorrhea are also presented. (author)

Use of functional tests in radioimmune diagnosis of endocrine diseases

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Slavnov, V.N.

1988-01-01

Radioimmunoassay for determining corticotropin (ACTH), somatotropin (STH), prolactin (LTH) and thyrotropin (TTH) concentration in blood for endocrine disease diagnosis are described. Reactions of earlier mentioned functional tests to specific stimulators and inhibitors for differential diagnosis of such diseases as Icenko-Cushing one, pituitary body and hypothalamus diseases, galactorrhea and amenorrhea syndrome are considered. The diagnosis reliability is underlined

The pathophysiology of amenorrhea in the adolescent.

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Golden, Neville H; Carlson, Jennifer L

2008-01-01

Menstrual irregularity is a common occurrence during adolescence, especially within the first 2-3 years after menarche. Prolonged amenorrhea, however, is not normal and can be associated with significant medical morbidity, which differs depending on whether the adolescent is estrogen-deficient or estrogen-replete. Estrogen-deficient amenorrhea is associated with reduced bone mineral density and increased fracture risk, while estrogen-replete amenorrhea can lead to dysfunctional uterine bleeding in the short term and predispose to endometrial carcinoma in the long term. In both situations, appropriate intervention can reduce morbidity. Old paradigms of whom to evaluate for amenorrhea have been challenged by recent research that provides a better understanding of the normal menstrual cycle and its variability. Hypothalamic amenorrhea is the most prevalent cause of amenorrhea in the adolescent age group, followed by polycystic ovary syndrome. In anorexia nervosa, exercise-induced amenorrhea, and amenorrhea associated with chronic illness, an energy deficit results in suppression of hypothalamic secretion of GnRH, mediated in part by leptin. Administration of recombinant leptin to women with hypothalamic amenorrhea has been shown to restore LH pulsatility and ovulatory menstrual cycles. The use of recombinant leptin may improve our understanding of the pathophysiology of hypothalamic amenorrhea in adolescents and may also have therapeutic possibilities.

A Rare Case of Primary Amenorrhea with Two Etiologies, Hypothalamic Amenorrhea, Transverse Vaginal Septum, and No Hematocolpos

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Ghaffari, Firouzeh; Keikha, Fatemeh; Arabipoor, Arezoo

2015-01-01

We reported a rare case of hypothalamic amenorrhea and transverse vaginal septum. A 28-year-old woman presented with primary amenorrhea and no complaint of abdominal pain. Laparoscopy revealed a small rudimentary uterus with streak ovaries and a vaginal pouch. The patient with diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome was subjected to a vaginoplasty in another fertility center. In our institute, after two courses of estrogen and progesterone, sonography revealed hematocolpos...

Frequency of primary amenorrhea due to chromosomal aberration

International Nuclear Information System (INIS)

Jabbar, S.

2004-01-01

Objective: To find out the frequency of primary amenorrhea due to chromosomal aberration and the different options available for management. Subjects and Methods: All patients with primary amenorrhea due to chromosomal aberrations were included in study. Patient's detailed history, general physical examination, presence or absence of secondary sexual characteristics, abdominal and pelvic examination finding were noted. Targeted investigations, including ultrasound, hormonal assay, buccal smear and karyotyping results were recorded. The management options were individually tailored with focus n psychological management. Results: Eighteen patients out of 30,000 patients were diagnosed as having primary amenorrhea. Six had primary amenorrhea due to chromosomal aberrations with the frequency of 0.02%. The age at presentation was 20 years and above in 50%. The most common cause was Turner's syndrome seen in 4 out of 6. The presenting symptoms were delay in onset of menstruation in 05 patients and primary infertility in 01 patient. Conclusion: Primary amenorrhea due to chromosomal aberration is an uncommon condition requiring an early and accurate diagnosis. Turner's syndrome is a relatively common cause of this condition. Management should be multi-disciplinary and individualized according to the patient's age and symptom at presentation. Psychological management is very important and counselling throughout treatment is recommended. (author)

A Rare Case of Primary Amenorrhea with Two Etiologies, Hypothalamic Amenorrhea, Transverse Vaginal Septum, and No Hematocolpos

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Firouzeh Ghaffari

2015-01-01

Full Text Available We reported a rare case of hypothalamic amenorrhea and transverse vaginal septum. A 28-year-old woman presented with primary amenorrhea and no complaint of abdominal pain. Laparoscopy revealed a small rudimentary uterus with streak ovaries and a vaginal pouch. The patient with diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH syndrome was subjected to a vaginoplasty in another fertility center. In our institute, after two courses of estrogen and progesterone, sonography revealed hematocolpos, while, under anesthesia, transverse vaginal septum was resected. Hysteroscopy revealed normal uterine cavity. She became pregnant 5 months postoperatively with controlled ovarian stimulation (COS in conjunction with intrauterine insemination, and she has two healthy babies now. This case highlights the importance of careful evaluation of all primary amenorrheas. Clinicians should be aware of presence of more than one etiology which causes atypical presentations and accomplishes a systematic strategy for the evaluation of amenorrhea potential to avoid long-term side effects of a misdiagnosis.

A rare case of primary amenorrhea with two etiologies, hypothalamic amenorrhea, transverse vaginal septum, and no hematocolpos.

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Ghaffari, Firouzeh; Keikha, Fatemeh; Arabipoor, Arezoo

2015-01-01

We reported a rare case of hypothalamic amenorrhea and transverse vaginal septum. A 28-year-old woman presented with primary amenorrhea and no complaint of abdominal pain. Laparoscopy revealed a small rudimentary uterus with streak ovaries and a vaginal pouch. The patient with diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome was subjected to a vaginoplasty in another fertility center. In our institute, after two courses of estrogen and progesterone, sonography revealed hematocolpos, while, under anesthesia, transverse vaginal septum was resected. Hysteroscopy revealed normal uterine cavity. She became pregnant 5 months postoperatively with controlled ovarian stimulation (COS) in conjunction with intrauterine insemination, and she has two healthy babies now. This case highlights the importance of careful evaluation of all primary amenorrheas. Clinicians should be aware of presence of more than one etiology which causes atypical presentations and accomplishes a systematic strategy for the evaluation of amenorrhea potential to avoid long-term side effects of a misdiagnosis.

A 33-Year-Old Man with Gynaecomastia and Galactorrhea as the First Symptoms of Graves Hyperthyroidism

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Khoohaphatthanakul, Somdul; Sriwijitkamol, Apiradee

2016-01-01

Graves’ hyperthyroidism has a various number of well-recognized manifestations. Galactorrhea is a rare manifestation in this disease. We describe a 33-year-old man who presented with the symptoms of hyperthyroidism, gynaecomastia, and galactorrhea for 2 months. Physical examination revealed goitre, gynaecomastia, and galactorrhea, bilaterally. Laboratory investigations demonstrated high free thyroxine with suppressed thyroid-stimulating hormone level together with elevated anti-TSH receptor; ...

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea.

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Samarakoon, Lasitha; Sirisena, Nirmala D; Wettasinghe, Kalum T; Kariyawasam, Kariyawasam Warnakulathanthrige Jayani C; Jayasekara, Rohan W; Dissanayake, Vajira H W

2013-05-01

Chromosomal abnormalities are implicated in the etiology of primary amenorrhea. The underlying chromosomal aberrations are varied and regional differences have been reported. The objective of this study is to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan women with primary amenorrhea. Medical records of all patients diagnosed with primary amenorrhea referred for cytogenetic analysis to two genetic centers in Sri Lanka from January 2005 to December 2011 were reviewed. Chromosome culture and karyotyping was performed on peripheral blood samples obtained from each patient. Data were analyzed using standard descriptive statistics. Altogether 338 patients with primary amenorrhea were karyotyped and mean age at testing was 20.5 years. Numerical and structural chromosomal abnormalities were noted in 115 (34.0%) patients which included 45,X Turner syndrome (10.7%), Turner syndrome variants (13.9%), XY females (6.5%), 45,X/46,XY (0.9%), 46,XX/46,XY (0.6%), 47,XXX (0.3%), 47,XX,+ mar (0.3%), 46,X,i(X)(p10) (0.3%), 46,XX with SRY gene translocation on X chromosome (0.3%) and 46,XX,inv(7)(p10;q11.2) (0.3%). Short stature, absent secondary sexual characteristics, neck webbing, cubitus valgus and broad chest with widely spaced nipples were commonly seen in patients with Turner syndrome and variant forms. Neck webbing and absent secondary sexual characteristics were significantly associated with classical Turner syndrome than variant forms. A considerable proportion of women with primary amenorrhea had chromosomal abnormalities. Mean age at testing was late suggesting delay in referral for karyotyping. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in women with primary amenorrhea. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

[Functional hypothalamic amenorrhea].

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Stárka, Luboslav; Dušková, Michaela

2015-10-01

Functional hypothalamic amenorrhea (FHA) besides pregnancy and syndrome of polycystic ovary is one of the most common causes of secondary amenorrhea. FHA results from the aberrations in pulsatile gonadotropin-releasing hormone (GnRH) secretion, which in turn causes impairment of the gonadotropins (follicle-stimulating hormone and luteinizing hormone). FHA is a form of the defence of organism in situations where life functions are more important than reproductive function. FHA is reversible; it can be normalized after ceasing the stress situation. There are three types of FHA: weight loss related, stress-related, and exercise-related amenorrhea. The final consequences are complex hormonal changes manifested by profound hypoestrogenism. Additionally, these patients present mild hypercortisolemia, low serum insulin levels, low insulin-like growth factor 1 (IGF-1) and low total triiodothyronine. Women health in this disorder is disturbed in several aspects including the skeletal system, cardiovascular system, and mental problems. Patients manifest a decrease in bone mass density, which is related to an increase in fracture risk. Therefore, osteopenia and osteoporosis are the main long-term complications of FHA. Cardiovascular complications include endothelial dysfunction and abnormal changes in the lipid profile. FHA patients present significantly higher depression and anxiety and also sexual problems compared to healthy subjects.

[The war at home: "war amenorrhea" in the First World War].

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Stukenbrock, Karin

2008-01-01

In 1917, the Göttingen gynaecologist Dietrich published a short article about a phenomenon which he called "war amenorrhea" ("Kriegsamenorrhoe"). The article attracted the attention of his colleagues. While the affected women did not pay much attention to their amenorrhea, the physicians considered the phenomenon a new disease which was mainly caused by the war. This new disease gave the gynaecologists the opportunity to present their specialty as a discipline with high relevance for medicine in times of war. Nevertheless, there was no consensus about the importance, the incidence, the diagnostic criteria, the causes and the appropriate therapy of"war amenorrhea". Although the gynaecologists failed to define a uniform clinical syndrome, they maintained the construction of "war amenorrhea" after the war and subsumed it under well known types of amenorrhea. We can conclude that under the conditions of war a new disease emerged which was not sharply defined.

A genetic basis for functional hypothalamic amenorrhea.

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Caronia, Lisa M; Martin, Cecilia; Welt, Corrine K; Sykiotis, Gerasimos P; Quinton, Richard; Thambundit, Apisadaporn; Avbelj, Magdalena; Dhruvakumar, Sadhana; Plummer, Lacey; Hughes, Virginia A; Seminara, Stephanie B; Boepple, Paul A; Sidis, Yisrael; Crowley, William F; Martin, Kathryn A; Hall, Janet E; Pitteloud, Nelly

2011-01-20

Functional hypothalamic amenorrhea is a reversible form of gonadotropin-releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive exercise, nutritional deficits, or psychological distress. Women vary in their susceptibility to inhibition of the reproductive axis by such stressors, but it is unknown whether this variability reflects a genetic predisposition to hypothalamic amenorrhea. We hypothesized that mutations in genes involved in idiopathic hypogonadotropic hypogonadism, a congenital form of GnRH deficiency, are associated with hypothalamic amenorrhea. We analyzed the coding sequence of genes associated with idiopathic hypogonadotropic hypogonadism in 55 women with hypothalamic amenorrhea and performed in vitro studies of the identified mutations. Six heterozygous mutations were identified in 7 of the 55 patients with hypothalamic amenorrhea: two variants in the fibroblast growth factor receptor 1 gene FGFR1 (G260E and R756H), two in the prokineticin receptor 2 gene PROKR2 (R85H and L173R), one in the GnRH receptor gene GNRHR (R262Q), and one in the Kallmann syndrome 1 sequence gene KAL1 (V371I). No mutations were found in a cohort of 422 controls with normal menstrual cycles. In vitro studies showed that FGFR1 G260E, FGFR1 R756H, and PROKR2 R85H are loss-of-function mutations, as has been previously shown for PROKR2 L173R and GNRHR R262Q. Rare variants in genes associated with idiopathic hypogonadotropic hypogonadism are found in women with hypothalamic amenorrhea, suggesting that these mutations may contribute to the variable susceptibility of women to the functional changes in GnRH secretion that characterize hypothalamic amenorrhea. Our observations provide evidence for the role of rare variants in common multifactorial disease. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT00494169.).

Emerging Hyperprolactinemic Galactorrhea in Obsessive Compulsive Disorder with a Stable Dose of Fluoxetine.

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Chatterjee, Seshadri Sekhar; Mitra, Sayantanava; Mallik, Nitu

2015-12-31

While fluoxetine (FXT) is a frequently prescribed selective serotonin reuptake inhibitor (SSRI), with few major side-effects; altered serotonergic transmissions in hypothalamic pathways might lead to a distressing, and often embarrassing, manifestation of galactorrhea by altering prolactin release in those on FXT. We report here a case of FXT-induced hyperprolactinemic galactorrhea developing late into treatment on a stable regimen, who responded well to subsequent replacement with sertraline. Based on present finding, we suggest that while SSRIs may share similar mechanisms of action, there exist individual differences in their effects on prolactin secretion pathways.

Amenorrhea - primary

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... of periods - primary Images Primary amenorrhea Normal uterine anatomy (cut section) Absence of menstruation (amenorrhea) References Bulun SE. The physiology and pathology of the female reproductive axis. In: ...

A Genetic Basis for Functional Hypothalamic Amenorrhea

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Caronia, Lisa M.; Martin, Cecilia; Welt, Corrine K.; Sykiotis, Gerasimos P.; Quinton, Richard; Thambundit, Apisadaporn; Avbelj, Magdalena; Dhruvakumar, Sadhana; Plummer, Lacey; Hughes, Virginia A.; Seminara, Stephanie B.; Boepple, Paul A.; Sidis, Yisrael; Crowley, William F.; Martin, Kathryn A.; Hall, Janet E.; Pitteloud, Nelly

2011-01-01

BACKGROUND Functional hypothalamic amenorrhea is a reversible form of gonadotropin-releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive exercise, nutritional deficits, or psychological distress. Women vary in their susceptibility to inhibition of the reproductive axis by such stressors, but it is unknown whether this variability reflects a genetic predisposition to hypothalamic amenorrhea. We hypothesized that mutations in genes involved in idiopathic hypogonadotropic hypogonadism, a congenital form of GnRH deficiency, are associated with hypothalamic amenorrhea. METHODS We analyzed the coding sequence of genes associated with idiopathic hypogonadotropic hypogonadism in 55 women with hypothalamic amenorrhea and performed in vitro studies of the identified mutations. RESULTS Six heterozygous mutations were identified in 7 of the 55 patients with hypothalamic amenorrhea: two variants in the fibroblast growth factor receptor 1 gene FGFR1 (G260E and R756H), two in the prokineticin receptor 2 gene PROKR2 (R85H and L173R), one in the GnRH receptor gene GNRHR (R262Q), and one in the Kall-mann syndrome 1 sequence gene KAL1 (V371I). No mutations were found in a cohort of 422 controls with normal menstrual cycles. In vitro studies showed that FGFR1 G260E, FGFR1 R756H, and PROKR2 R85H are loss-of-function mutations, as has been previously shown for PROKR2 L173R and GNRHR R262Q. CONCLUSIONS Rare variants in genes associated with idiopathic hypogonadotropic hypogonadism are found in women with hypothalamic amenorrhea, suggesting that these mutations may contribute to the variable susceptibility of women to the functional changes in GnRH secretion that characterize hypothalamic amenorrhea. Our observations provide evidence for the role of rare variants in common multifactorial disease. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT00494169.) PMID:21247312

[Calcium and bone metabolism across women's life stages. Bone metabolism of women in primary amenorrhea.

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Higuchi, Tsuyoshi

For development of the bone during adolescence, the increased estrogen plays an important role especially in young women as well as GH/IGF-Ⅰ system. Although primary amenorrhea can be caused by various pathological factors, almost of cases have a dysfunction of estrogen secretory systems. For Turner syndrome, which is well-known disease with primary amenorrhea,it is generally recommended that the estrogen therapy is started at adolescence and gradually increased up to adult dose level. Recently studies about the adequate dose of estrogen and the adequate age of adult dose in Turner syndrome revealed that intervention with adult dose of estrogen is required as soon as possible for gaining better bone mineral. In the point of view for bone fragility at the future, early diagnosis and adequate intervention for primary amenorrhea is important.

Focus on BMI and subclinical hypothyroidism in adolescent girls first examined for amenorrhea or oligomenorrhea. The emerging role of polycystic ovary syndrome.

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Nezi, Markella; Christopoulos, Panagiotis; Paltoglou, George; Gryparis, Alexandros; Bakoulas, Vassilios; Deligeoroglou, Efthimios; Creatsas, George; Mastorakos, George

2016-06-01

TSH concentrations 4.5 μIU/mL (subclinical hypothyroidism), respectively. Following the definition of polycystic ovary syndrome (PCOS) according to either the National Institutes of Health (NIH) criteria or those proposed in the literature by Carmina and his team, patients presented mainly with oligomenorrhea or secondary amenorrhea. There was good agreement between patients with amenorrhea or oligomenorrhea fulfilling both of the PCOS definition criteria employed. Among adolescent patients presenting with amenorrhea or oligomenorrhea for the first time those with low and high BMI present more often with primary and secondary amenorrhea, respectively. Obesity is involved in the development of hyperandrogenemia and hyperinsulinemia, particularly in PCOS patients. In these patients, subclinical hypothyroidism may be concealed and it should be investigated. These patients should be treated for abnormally increased or decreased BMI and be investigated for autoimmune thyroiditis.

Secondary amenorrhea (image)

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Secondary amenorrhea is the cessation of menstrual flow for a period of 6 months or more in the absence ... as anxiety can be the root cause of amenorrhea. Treatment can range from behavior modification for excessive ...

Exercise-induced amenorrhea.

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Olson, B R

1989-02-01

Strenuous exercise may cause menstrual abnormalities, including amenorrhea. The hypoestrogenemia that accompanies amenorrhea has been associated with a low bone mineral content and an increased incidence of stress fractures. With the resumption of menses, which usually occurs soon after female athletes decrease the intensity of their training or increase their body weight, bone mineral content increases and the incidence of stress fractures decreases.

Clinical laboratorial analysis of 168 patients with galactorrhea from different etiologic conditions

International Nuclear Information System (INIS)

Pacheco, I.H.F.

1984-01-01

This paper evaluated the data of 168 patients with galactorrhea throught factorial analysis. This method consists, initially, of an intercorrelation analysis, which serves as a base for the determination of a number of factors, one of them, which could be described as the patient's risk of having a pituitary tumour. This factor was formed, basically, by four elements: the existence of radiological changes, head pain, menstrual irregularities and the prolactin level. After the global study, the patients were analysed within the etiological subgroups, in several clinical and laboratorial aspects, as menstrual abnormalities, duration of the galactorrhea, prolactin level, dynamic tests to evaluate the prolactin secretion an the pituitary reserve, and by the therapeutic aspect. The results of the tests that measures the prolactin secretion were analysed, also, in terms of it's basal hormonal level, and have shown to be more dependent on them, than on the etiological group. We have compared the surgical, radioactive and bromocriptine treatment of pituitary tumours. There wasn't a satisfactory cure rate in any of them, which reinforces the need of an earlier recognition of these tumours. (author)

Chronic dihydroergotoxine treatment affects the number of dopamine recognition sites in rat striatum

Energy Technology Data Exchange (ETDEWEB)

Battaini, F.; Govoni, S.; Rius, R.A.; Spano, P.F.; Trabucchi, M.

1984-06-01

Ergot derivatives have been proposed to have ameliorative effects in various pathological conditions where dopaminergic transmission is believed to be impaired, namely Parkinson's disease, amenorrhea-galactorrhea syndrome, and in the treatment of behavioural disturbances of the elderly. To get more insight into a possible involvement of a direct action of ergot derivatives on dopamine receptors we studied the effect of acute and chronic dihydroergotoxine (DHT) treatment on 3H-Spiroperidol and 3H-N-Propylnorapomorphine (3H-NPA) binding to rat striatal membrane preparations. The results are in favor of an interaction of ergot derivatives with dopamine recognition sites both after acute and chronic treatment.

Chronic dihydroergotoxine treatment affects the number of dopamine recognition sites in rat striatum

Energy Technology Data Exchange (ETDEWEB)

Battaini, F; Govoni, S; Rius, R A; Spano, P F; Trabucchi, M

1984-06-01

Ergot derivatives have been proposed to have ameliorative effects in various pathological conditions where dopaminergic transmission is believed to be impaired, namely Parkinson's disease, amenorrhea-galactorrhea syndrome, and in the treatment of behavioural disturbances of the elderly. To get more insight into a possible involvement of a direct action of ergot derivatives on dopamine receptors we studied the effect of acute and chronic dihydroergotoxine (DHT) treatment on 3H-Spiroperidol and 3H-N-Propylnorapomorphine (3H-NPA) binding to rat striatal membrane preparations. The results are in favor of an interaction of ergot derivatives with dopamine recognition sites both after acute and chronic treatment.

Neuroendocrine causes of amenorrhea--an update.

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Fourman, Lindsay T; Fazeli, Pouneh K

2015-03-01

Secondary amenorrhea--the absence of menses for three consecutive cycles--affects approximately 3-4% of reproductive age women, and infertility--the failure to conceive after 12 months of regular intercourse--affects approximately 6-10%. Neuroendocrine causes of amenorrhea and infertility, including functional hypothalamic amenorrhea and hyperprolactinemia, constitute a majority of these cases. In this review, we discuss the physiologic, pathologic, and iatrogenic causes of amenorrhea and infertility arising from perturbations in the hypothalamic-pituitary-adrenal axis, including potential genetic causes. We focus extensively on the hormonal mechanisms involved in disrupting the hypothalamic-pituitary-ovarian axis. A thorough understanding of the neuroendocrine causes of amenorrhea and infertility is critical for properly assessing patients presenting with these complaints. Prompt evaluation and treatment are essential to prevent loss of bone mass due to hypoestrogenemia and/or to achieve the time-sensitive treatment goal of conception.

CT studies in hyperprolactinemia; Badania KT w hiperprolaktynemii

Energy Technology Data Exchange (ETDEWEB)

Gradzki, J.; Paprzycki, W.; Krzyzagorska, E.; Wasko, R.; Warenik-Szymankiewicz, A. [Akademia Medyczna, Poznan (Poland)

1993-12-31

Computerized tomography studies in 62 patients (55 females and 7 males) with hyperprolactinemia are presented. The female patients had secondary amenorrhea and galactorrhea, whereas the male patients suffered from impotency, gynaecomastia and very rarely galactorrhea. In 39 cases CT revealed a pituitary adenoma (prolactinoma), in 14 cases of them microadenoma, as the cause of hormonal and clinical disturbances. In 21 cases an empty sella with rudimentary pituitary surrounded by cerebrospinal fluid or lack of pituitary mass were found. In one case suprasellar and intrasellar calcifications were present. (author). 17 refs, 4 figs.

CT studies in hyperprolactinemia; Badania KT w hiperprolaktynemii

Energy Technology Data Exchange (ETDEWEB)

Gradzki, J; Paprzycki, W; Krzyzagorska, E; Wasko, R; Warenik-Szymankiewicz, A [Akademia Medyczna, Poznan (Poland)

1994-12-31

Computerized tomography studies in 62 patients (55 females and 7 males) with hyperprolactinemia are presented. The female patients had secondary amenorrhea and galactorrhea, whereas the male patients suffered from impotency, gynaecomastia and very rarely galactorrhea. In 39 cases CT revealed a pituitary adenoma (prolactinoma), in 14 cases of them microadenoma, as the cause of hormonal and clinical disturbances. In 21 cases an empty sella with rudimentary pituitary surrounded by cerebrospinal fluid or lack of pituitary mass were found. In one case suprasellar and intrasellar calcifications were present. (author). 17 refs, 4 figs.

Primary amenorrhea: diagnosis and management.

Science.gov (United States)

Marsh, Courtney A; Grimstad, Frances W

2014-10-01

Puberty is a defining time of many adolescents' lives. It is a series of events that includes thelarche, pubarche, and menarche. Primary amenorrhea is the absence of menarche. There are numerous etiologies including outflow tract obstructions, gonadal dysgenesis, and anomalies of the hypothalamic axis. This review's aims are to define primary amenorrhea and describe the various causes, their workups, associated comorbidities, and treatment options. At the end, a generalist should be able to perform an assessment of an adolescent who presents with primary amenorrhea and, if warranted, begin initial treatment.

Huge bilateral ovarian cysts in adulthood as the presenting feature of Van Wyk Grumbach syndrome due to chronic uncontrolled juvenile hypothyroidism

Directory of Open Access Journals (Sweden)

K S Shivaprasad

2013-01-01

Full Text Available Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm and a multicystic left ovary (55 × 45 × 49 mm were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7.5 years age. She had elevated levels of cancer antigen (CA-125 which normalized post levothyroxine supplementation. Elevated CA-125 may lead to misdiagnosis of ovarian carcinoma and inadvertent treatment. Bilateral ovarian cysts in adults are a rare presentation of juvenile hypothyroidism. It is necessary to screen for primary hypothyroidism in patients presenting with bilateral ovarian cysts to prevent unnecessary evaluation and treatment.

Persistent amenorrhea and decreased DHEAS to cortisol ratio after recovery from anorexia nervosa.

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Andrisani, Alessandra; Sabbadin, Chiara; Minardi, Silvia; Favaro, Angela; Donà, Gabriella; Bordin, Luciana; Ambrosini, Guido; Armanini, Decio

2017-04-01

Persistent amenorrhea is a frequent condition affecting anorexic patients after stable weight recovery. It has been proposed that it could be due to alterations of the hypothalamic-pituitary-gonadal axis linked with persistent hormonal impairments, such as relative hypercortisolemia and hypoleptinemia, and psychological symptoms related to anorexia nervosa (AN). The aim of our study was to evaluate the metabolic and hormonal pattern involved in the persistence of amenorrhea after recovery from AN. Eight weight-recovered anorexic patients with amenorrhea were investigated and matched with 10 healthy eumenorrhoic women, comparable for age and BMI. Data showed basal FSH and LH values similar in both groups and a normal pituitaric response to LHRH administration. Morning serum cortisol was normal but significantly higher in patients, while dehydroepiandrosterone sulfate (DHEAS) to cortisol ratio, leptin and vitamin D were significantly lower in patients than controls. Women with previous AN presented insulin resistance and two patients showed an overall picture consistent with polycystic ovary syndrome (PCOS). In conclusion, long-lasting amenorrhea after recovery from AN is linked with a persistent hypothalamic dysfunction, although other concomitant causes like PCOS and insulin resistance should be considered. Decreased DHEAS to cortisol ratio is a new finding which could be correlated to the persistent hypogonadism.

Chromosomal abnormality in patients with secondary amenorrhea.

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Safai, Akbar; Vasei, Mohammad; Attaranzadeh, Armin; Azad, Fariborz; Tabibi, Narjes

2012-04-01

Secondary amenorrhea is a condition in which there is cessation of menses after at least one menstruation. It is a symptom of different diseases, such as hormonal disturbances which range from pituitary to ovarian origin, as well as chromosomal abnormalities. Knowledge of the distinct cause of secondary amenorrhea is of tremendous benefit for the management and monitoring of patients. In this study, we determine the chromosomal abnormalities in patients with secondary amenorrhea in Southwest Iran. We selected 94 patients with secondary amenorrhea who referred to our Cytogenetic Ward from 2004 until 2009. For karyotyping, peripheral blood lymphocyte cultures were set up by conventional technique. In this study, 5.3% (n=5) of patients with secondary amenorrhea presented with chromosomal abnormalities, of which all contained an X element. The chromosomal abnormalities were: i) 45, X (n=1); ii) 47, XXX (n=1); iii) 45, X [13]/ 45, Xi(X)q[17] (n=1);  iv) 45, X[12]/46,X,+mar[12] (n=1); and v) 46,X,del(Xq)(q23q28) (n=1). Our study revealed that some causes of secondary amenorrhea could be due to chromosomal abnormalities. Therefore, cytogenetic studies should be important tests in the evaluation of patients with secondary amenorrhea.

Frequency of Macroprolactinemia in Hyperprolactinemic Women Presenting with Menstrual Irregularities, Galactorrhea, and/or Infertility: Etiology and Clinical Manifestations

Directory of Open Access Journals (Sweden)

Alfredo Leaños-Miranda

2013-01-01

Full Text Available Aim. To determine the frequency of macroprolactinemia, its etiology, and the clinical manifestations in patients with hyperprolactinemia presenting with menstrual irregularities, galactorrhea, and/or infertility who were attended by the gynecology-endocrinology service. Methods. In a cross-sectional study, 326 hyperprolactinemic women were tested for serum prolactin (PRL concentrations before and after chromatographic separation (gel filtration and affinity with protein G and extraction of free PRL with polyethylene glycol (PEG. Results. Sera from 57 patients (17.5% were found to have macroprolactinemia. The presence of macroprolactinemia was attributable to anti-PRL autoantibodies in 54 (94.7% patients. The median serum PRL levels were similar in patients with or without macroprolactinemia (42.0 versus 38.1 ng/mL. In contrast, patients with macroprolactinemia had lower serum-free PRL levels (median 9.2 versus 31.7 ng/mL, . Patients without macroprolactinemia had a higher frequency of galactorrhea and abnormal pituitary imagine findings (. Conclusions. We can conclude that macroprolactinemia should be considered as a benign variant, and it must be ruled out in women presenting with menstrual irregularities, galactorrhea, and/or infertility in order to investigate other causes different than hyperprolactinemia. Serum PRL precipitated with PEG is a convenient and simple procedure to screen for the presence of macroprolactinemia.

Confrontation visual field testing in routine ophthalmic practice ...

African Journals Online (AJOL)

Results: Two patients had symptoms of headache and visual blurring, galactorrhea and amenorrhea. A right homonymous hemianopia and bitemporal hemianopia respectively were detected on CVF. The 3rd patient complained of visual blurring and bumping into objects following an assault to the head. CVF detected ...

Intra and latero-sellar carotid aneurysm mimicking a pituitary adenoma

African Journals Online (AJOL)

A 46-year-old women, followed for infertility last 5 years, which presents a secondary amenorrhea 6 months ago, without functional signs of anterior pituitary deficiency or signs of intracranial hypertension or galactorrhea. hormonal analysis shows hyperprolactinemia to 97 ng/ml. Hypothalamic-pituitary magnetic resonance ...

The relation between athletic sports and prevalence of amenorrhea and oligomenorrhea in Iranian female athletes

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Dadgostar Haleh

2009-07-01

Full Text Available Abstract Background In 1992, the concept of female athlete triad was introduced to describe the interrelated problems of amenorrhea, eating disorders and osteoporosis seen in female athletes. To gain a clearer picture of amenorrhea/oligomenorrhea in Iran, one of the main components of the female athlete triad, we therefore established this study on the prevalence of amenorrhea/oligomenorrhea in elite Iranian female athletes, also evaluating the risk factors of these disorders in the same population. Methods This study performed as a cross-sectional study. All elite Iranian female athletes of 34 sports federation, including female athletes in national teams and medalists of Tehran were invited to participate. A total of 788 (95% response rate returned the questionnaires and were examined. Younger athletes under the age of menarche were excluded. Each athlete completed a self-administered questionnaire, which covered the following questions about participant's demographic information, athletic history, history of injuries and menstrual pattern. In order to diagnose the causes of amenorrhea/Oligomenorrhea including polycystic ovary syndrome(PCOS, participants with amenorrhea/Oligomenorrhea underwent further investigation. They were evaluated by following Para clinic investigation, and an ultrasonographic study of ovary. Results The age ranged from 13–37 (mean = 21.1, SD = 4.5. Seventy one (9.0% individuals had amenorrhea/oligomenorrhea, among those, 11 (15.5% had PCOS. There was also a positive association between amenorrhea/oligomenorrhea and the following: age under 20 OR; 2.67, 95%CI(1.47 – 4.85, weight class sports OR; 2.09, 95%CI(1.15 – 3.82, endurance sports OR; 2.89, 95%CI(1.22 – 6.84, late onset of menarche OR; 3.32 95%CI(1.04–10.51, and use of oral contraceptive pills OR; 6.17, 95%CI(3.00 – 12.69. Intensity of training sport or BMI were not risk factors. Conclusion These findings support the previous findings in the literature

Causes of amenorrhea in Korea: Experience of a single large center

OpenAIRE

Kwon, Su-Kyoung; Chae, Hee-Dong; Lee, Kyung-Hee; Kim, Sung-Hoon; Kim, Chung-Hoon; Kang, Byung-Moon

2014-01-01

Objective To investigate the causes of amenorrhea in Korean women. Methods Medical records from 1,212 women with amenorrhea who visited the Department of Obstetrics and Gynecology, Asan Medical Center, between January 1989 and December 2011 were retrospectively reviewed. Amenorrhea was categorized as either primary or secondary. Results Primary amenorrhea was identified in 132 of the patients (10.9%) and secondary amenorrhea in 1,080 (89.1%). The most frequent causes of primary amenorrhea wer...

Treating Athletic Amenorrhea: A Matter of Instinct?

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Monahan, Terry

1987-01-01

Information is presented on the current status of research and treatment of athletic amenorrhea, including discussion of etiology, difficulties in research, study design, definition of amenorrhea, and future trends in research and treatment. (CB)

Medically induced amenorrhea in female astronauts.

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Jain, Varsha; Wotring, Virginia E

2016-01-01

Medically induced amenorrhea can be achieved through alterations in the normal regulatory hormones via the adoption of a therapeutic agent, which prevents menstrual flow. Spaceflight-related advantages for medically induced amenorrhea differ according to the time point in the astronaut's training schedule. Pregnancy is contraindicated for many pre-flight training activities as well as spaceflight, therefore effective contraception is essential. In addition, the practicalities of menstruating during pre-flight training or spaceflight can be challenging. During long-duration missions, female astronauts have often continuously taken the combined oral contraceptive pill to induce amenorrhea. Long-acting reversible contraceptives (LARCs) are safe and reliable methods used to medically induce amenorrhea terrestrially but as of yet, not extensively used by female astronauts. If LARCs were used, daily compliance with an oral pill is not required and no upmass or trash would need disposal. Military studies have shown that high proportions of female personnel desire amenorrhea during deployment; better education has been recommended at recruitment to improve uptake and autonomous decision-making. Astronauts are exposed to similar austere conditions as military personnel and parallels can be drawn with these results. Offering female astronauts up-to-date, evidence-based, comprehensive education, in view of the environment in which they work, would empower them to make informed decisions regarding menstrual suppression while respecting their autonomy.

Psychological correlates of functional hypothalamic amenorrhea.

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Marcus, M D; Loucks, T L; Berga, S L

2001-08-01

To determine whether mood, attitudes, or symptoms of disordered eating discriminated women with functional hypothalamic amenorrhea (FHA) from those with organic causes of amenorrhea and eumenorrhea. Cross-sectional comparison of women with FHA, women with organic amenorrhea, and eumenorrheic control women. Clinical research center in an academic medical institution. Seventy-seven women > or =18 years old with time since menarche > or =5 and < or =25 years were recruited by advertisement. Ovulation was confirmed in eumenorrheic control women. Causes of anovulation were carefully documented in amenorrheic participants and LH pulse profiles were obtained to document the diagnosis of FHA. All participants were interviewed and completed questionnaires. Self-report measures of dysfunctional attitudes, coping styles, and symptoms of depression and eating disorders. Women with FHA reported more depressive symptoms and dysfunctional attitudes than did eumenorrheic women, but not significantly more than women with organic amenorrhea. However, women with FHA reported significantly more symptoms of disordered eating than did either anovulatory or ovulatory women. The findings are consistent with the hypothesis that FHA is precipitated by a combination of psychosocial stressors and metabolic challenge.

Fingolimod-associated amenorrhea: a report of three cases.

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Alroughani, R

2014-10-01

Amenorrhea has not been reported as an adverse event in fingolimod phase III clinical trials in patients with multiple sclerosis (MS) with either 0.5 mg or 1.25 mg dosages. Here we report three cases of young women with MS who developed amenorrhea within 6 months of initiation of fingolimod. They experienced irregularities in their menstrual cycles in the first 3 months, which progressed to amenorrhea by 5(th) or 6(th) month. Gynecology evaluations showed no other etiologies. Menses returned to baseline after discontinuation of fingolimod for 2-3 months. Amenorrhea could be associated with fingolimod in the first year. Future surveillance is advised to determine the incidence rate of this adverse event. © The Author(s) 2014.

The relation of eating problems and amenorrhea in ballet dancers.

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Brooks-Gunn, J; Warren, M P; Hamilton, L H

1987-02-01

Exercise-induced amenorrhea has received considerable attention in the medical literature. The combination of exercise and low body weight is thought to exert synergistic effects in the pathogenesis of amenorrhea, while the role of dieting and eating problems, another possible causative mechanism, has not been examined. A sample of 55 adult dancers in national and regional classical ballet companies was studied; their mean age was 24.7 yr. Fifty-six percent of the dancers had delayed menarche (age 14 or later) and 19% of the sample were currently amenorrheic (5 months or longer). One-third of the dancers reported having had an eating problem (self-reported anorexia nervosa or bulimia). Amenorrhea and reported eating problems were significantly related: 50% of amenorrheics reported anorexia nervosa while 13% of the normals did. In addition, prolonged amenorrhea was significantly related to dieting (as measured by EAT-26 scales, a measure of dieting behavior). As expected, leanness and absolute weight also were related to prolonged amenorrhea. Amenorrhea in this sample of adult dancers was not related to current activity level or age at which training began. Thus, eating problems may be one factor in the pathogenesis of prolonged amenorrhea in certain athletic groups.

Diagnostic and therapeutic approach to hypothalamic amenorrhea.

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Genazzani, Alessandro D; Ricchieri, Federica; Lanzoni, Chiara; Strucchi, Claudia; Jasonni, Valerio M

2006-12-01

Hypothalamic amenorrhea (HA) is a secondary amenorrhea with no evidence of endocrine/systemic causal factors, mainly related to various stressors affecting neuroendocrine control of the reproductive axis. In clinical practice, HA is mainly associated with metabolic, physical, or psychological stress. Stress is the adaptive response of our body through all its homeostatic systems, to external and/or internal stimuli that activate specific and nonspecific physiological pathways. HA occurs generally after severe stress conditions/situations such as dieting, heavy training, or intense emotional events, all situations that can induce amenorrhea with or without body weight loss and HA is a secondary amenorrhea with a diagnosis of exclusion. In fact, the diagnosis is essentially based on a good anamnestic investigation. It has to be investigated using the clinical history of the patient: occurrence of menarche, menstrual cyclicity, time and modality of amenorrhea, and it has to be exclude any endocrine disease or any metabolic (i.e., diabetes) and systemic disorders. It is necessary to identify any stress situation induced by loss, family or working problems, weight loss or eating disorders, or physical training or agonist activity. Peculiar, though not specific, endocrine investigations might be proposed but no absolute parameter can be proposed since HA is greatly dependent from individual response to stressors and/or the adaptive response to stress. This article tries to give insights into diagnosis and putative therapeutic strategies.

Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development.

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Hunter, J D; Pierce, S R; Calikoglu, A S; Howell, J O

2016-08-01

Sex development depends on the synchronous interaction of complicated genetic and hormonal events. Sex differentiation begins with sex determination, which is the assignment of the embryonic bipotential gonads as either testes or ovaries on the basis of transcriptional regulation. Hormonal regulation then directs the development of the male or female phenotype. Disruptions of this intricate cascade of events result in disorders of sexual development. A 16-year-old female adolescent presented with primary amenorrhea. Evaluation revealed female external genitalia, XY karyotype, absent gonadal tissue, and rudimentary Müllerian structures. On the basis of her constellation of findings, the most logical diagnosis was the rare embryonic testicular regression syndrome. A careful understanding of embryonic sexual development is critical to the evaluation of patients with disorders of sexual development. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Reversible thyrotroph hyperplasia with hyperprolactinemia: A rare presenting manifestation of primary hypothyroidism

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Rajesh Rajput

2012-01-01

Full Text Available Pituitary thyrotroph hyperplasia with hyperprolactinemia has been described as a rare presentation of primary hypothyroidism. Premenopausal females with this disorder can present with features of hypothyroidism, menstrual disturbances, galactorrhea, and visual field defects because of enlarged pituitary. Here we describe a 32-year-old female presenting to her gynecologist primarily with galactorrhea and secondary amenorrhea. She was found to have raised serum prolactin, and MRI brain showed enlarged pituitary. She was referred for pituitary surgery when she came to us. Clinical examination and biochemistry were suggestive of primary hypothyroidism. She was prescribed levothyroxine replacement. At 6 weeks follow-up, serum prolactin came down to normal, galactorrhea subsided, and spontaneous menstrual cycles resumed. In 12 weeks, pituitary enlargement completely regressed and in another month after that, she conceived. Hence, primary hypothyroidism can present with thyrotroph hyperplasia, where correct diagnosis and levothyroxine therapy can prevent unnecessary pituitary surgery. Hyperprolactinemia in this setting is of no clinical significance.

Hypothalamic amenorrhea: from diagnosis to therapeutical approach.

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Genazzani, A D; Chierchia, E; Santagni, S; Rattighieri, E; Farinetti, A; Lanzoni, C

2010-05-01

Among secondary amenorrheas, hypothalamic amenorrhea (HA) is the one with no evidence of endocrine/systemic causal factors. HA is mainly related to various stressors affecting neuroendocrine control of the reproductive axis. In clinical practice, HA is mainly associated with metabolic, physical, or psychological stress. Stress is the adaptive response of our body through all its homeostatic systems, to external and/or internal stimuli that activate specific and nonspecific physiological pathways. HA occurs generally after severe stressed conditions/situations such as dieting, heavy training, or intense emotional events, all situations that can induce amenorrhea with or without body weight loss and HA is a secondary amenorrhea with a diagnosis of exclusion. In fact, the diagnosis is essentially based on a good anamnestic investigation. It has to be investigated using the clinical history of the patient: occurrence of menarche, menstrual cyclicity, time and modality of amenorrhea, and it has to be excluded any endocrine disease or any metabolic (i.e., diabetes) and systemic disorders. It is necessary to identify any stressed situation induced by loss, family or working problems, weight loss or eating disorders, or physical training or agonist activity. Peculiar, though not specific, endocrine investigations might be proposed but no absolute parameter can be proposed since HA is greatly dependent from individual response to stressors and/or the adaptive response to stress. This chapter aims to give insights into diagnosis and putative therapeutic strategies. Copyright 2010 Elsevier Masson SAS. All rights reserved.

Internet-Based Cognitive Behavioral Therapy Effects on Depressive Cognitions and Brain Function

Science.gov (United States)

2014-03-01

67. REESE, T. G., HEID, O., WEISSKOFF, R. M. & WEDEEN, V. J. 2003. Reduction of eddy-current- induced distortion in diffusion MRI using a twice...No ___ Yes Amenorrhea (> 3 months without a period when not pregnant) ___ No ___ Yes Galactorrhea (Breast milk...How often? _____________ PHYSICAL INFORMATION Do you engage in regular exercise : YES NO If ‘YES’: How many days per week do

Cardiometabolic abnormalities in the polycystic ovary syndrome: pharmacotherapeutic insights

NARCIS (Netherlands)

Westerveld, H. E.; Hoogendoorn, M.; de Jong, A. W. F.; Goverde, A. J.; Fauser, B. C. J. M.; Dallinga-Thie, G. M.

2008-01-01

The polycystic ovary syndrome (PCOS) affects 5-10% of all premenopausal women. It is diagnosed by a combination of oligo-amenorrhea and hyperandrogenism (NIH criteria) or by the presence of two out of three of: oligo-amenorrhea, hyperandrogenism, polycystic ovaries on ultrasound (Rotterdam

[Revelation of a polymicrocystic ovary syndrome after one month's treatment by pulsatile GnRH in a patient presenting with functional hypothalamic amenorrhea].

Science.gov (United States)

Reyss, A C; Merlen, E; Demerle, C; Dewailly, D

2003-12-01

Polycystic ovary syndrome (PCOS) and hypothalamic amenorrhea (HA) are the most frequent causes of endocrine infertility, but their association is an uncommon occurrence. We report the case of a 28-year old woman suffering from infertility and amenorrhea. Her weight was normal (BMI = 19) and she had no hirsutism. She self-reported food restriction and a 10 kg weight loss 5 years ago, concomitant with the onset of amenorrhea. At the initial evaluation, the patient was considered as having HA due to food restriction. At ultrasonography, ovaries were small and multifollicular (right and left area: 2.2 and 2.5 cm(2), respectively; number of cysts 2-9 mm in diameter: 15 and 12, respectively), and no stromal hypertrophy was noted. She has been treated for 1 month by intravenous pulsatile GnRH administration. Although the doses were increased from 5 to 15 microg/pulse every 90 min, no E2 response and no follicular development were observed. Hormonal re-evaluation revealed normal levels of serum LH, FSH and androgens, and a normal LH/FSH ratio. However, a typical aspect of PCO was found at ultrasound (right and left area: 6.5 and 5.5 cm(2), respectively, and more than 15 small cysts arranged peripherally around an increased central stroma in each ovary). The treatment has been then switched to hMG, using the low dose step-up regimen and starting with 75 U/day. In the absence of response after 2 weeks, the dose was increased to 112.5 U/day and a multifollicular reaction occurred, leading to cancellation. In conclusion, we hypothesize that this patient had a "hidden" PCOS when she was hypogonadotrophic and that it developed very rapidly after restitution of a normal gonadotropin level under exogenous GnRH. This occurred despite a low insulin level, showing that hyperinsulinism is not a prerequisite for the development of PCOS in every case.

[CYTOGENETIC ANALYSIS OF PATIENTS WITH PRIMARY AMENORRHEA].

Science.gov (United States)

Stoyanova, V; Linev, A; Ivanov, H; Vachev, T

2015-01-01

Primary amenorrhea is one of the common reproductive disorder affecting females. It leads to the absence of menarche in the reproductive age group in females and/or complete absence of reproductive organs. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Thus, the role of the clinical geneticists in terms of diagnosis, risk assessment, genetic counseling and management of patients with primary amenorrhea and their families is essential. The genetic contribution to amenorrhea is studied both at the cellular and molecular level aiming at chromosomal abnormalities and gene mutations. In the present study we aim to perform chromosomal analysis in 140 patients present with primary amenorrhea employing GTG banding technique. The resulting karyotype revealed 67.4% (n = 95) with normal chromosome composition and 32.6% (n = 46) showed chromosomal abnormalities. In patients with abnormal chromosome constituents, 20% (n = 9) exhibit numerical aberration, 22% (n = 10) showed structural abnormalities, 43% (n = 20) mosaic genotype and 15% (n = 7) of cases--male karyotype. Furthermore, the involvement of Y chromosome and the origin of marker chromosome was confirmed by applying fluorescent in situ hybridization (FISH) in four patients.

A genetic basis for functional hypothalamic amenorrhea.

OpenAIRE

Caronia, L.M.; Martin, C.; Welt, C.K.; Sykiotis, G.P.; Quinton, R.; Thambundit, A.; Avbelj, M.; Dhruvakumar, S.; Plummer, L.; Hughes, V.A.; Seminara, S.B.; Boepple, P.A.; Sidis, Y.; Crowley, W.F.; Martin, K.A.

2011-01-01

Background: Functional hypothalamic amenorrhea is a reversible form of gonadotropin-releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive exercise, nutritional deficits, or psychological distress. Women vary in their susceptibility to inhibition of the reproductive axis by such stressors, but it is unknown whether this variability reflects a genetic predisposition to hypothalamic amenorrhea. We hypothesized that mutations in genes involved in idiopathic hypogon...

Functional hypothalamic amenorrhea and its influence on women’s health

OpenAIRE

Meczekalski, B.; Katulski, K.; Czyzyk, A.; Podfigurna-Stopa, A.; Maciejewska-Jeske, M.

2014-01-01

Introduction Functional hypothalamic amenorrhea (FHA) is one of the most common causes of secondary amenorrhea. There are three types of FHA: weight loss-related, stress-related, and exercise-related amenorrhea. FHA results from the aberrations in pulsatile gonadotropin-releasing hormone (GnRH) secretion, which in turn causes impairment of the gonadotropins (follicle-stimulating hormone and luteinizing hormone). The final consequences are complex hormonal changes manifested by profound hypoes...

Galactorrea grave tras aumento mamario con implantes Severe galactorrhea after mammary augmentation with implants

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F.T. Fidalgo Rodríguez

2012-06-01

Full Text Available La galactorrea es una complicación poco frecuente después de la cirugía plástica mamaria. Su causa aun es desconocida, aunque lo más probable es que su aparición tenga un origen multifactorial. En el caso que presentamos la paciente desarrolló incremento simétrico del volumen de ambas mamas después de un cirugía de aumento mamario. No se detectaron cambios en los valores de prolactina. El proceso no respondió al tratamiento con bromocriptina. La galactorrea postquirúrgica con frecuencia sigue un curso benigno y autolimitado, culminando con resolución espontánea. Dependiendo de la severidad de los síntomas, su tratamiento puede ser médico y/o quirúrgico, con drenaje o incluso retirada de los implantes mamarios.Galactorrhea is a complication rarely observed after mammary plastic surgery. The cause remains unknown although it's likely to be multifactorial. In the reported case, the patient described symmetric massive engorgement of both breasts after augmentation mammoplasty. No significant change was detected in the postoperative prolactin values. The condition was unresponsive to treatment with bromocriptine. Postsurgical galactorrhea often follows a benign course culminating in spontaneous resolution Depending on symptom severity, treatment may be medical with the prescription of dopaminergic agonists, and/or surgical with drainage or even removal of the mammary implants.

Functional hypothalamic amenorrhea: current view on neuroendocrine aberrations.

Science.gov (United States)

Meczekalski, Blazej; Podfigurna-Stopa, Agnieszka; Warenik-Szymankiewicz, Alina; Genazzani, Andrea Riccardo

2008-01-01

Functional hypothalamic amenorrhea (FHA) is defined as a non-organic and reversible disorder in which the impairment of gonadotropin-releasing hormone (GnRH) pulsatile secretion plays a key role. There are main three types of FHA: stress-related amenorrhea, weight loss-related amenorrhea and exercise-related amenorrhea. The spectrum of GnRH-luteinizing hormone (LH) disturbances in FHA is very broad and includes lower mean frequency of LH pulses, complete absence of LH pulsatility, normal-appearing secretion pattern and higher mean frequency of LH pulses. Precise mechanisms underlying the pathophysiology of FHA are very complex and unclear. Numerous neuropeptides, neurotransmitters and neurosteroids play important roles in the physiological regulation of GnRH pulsatile secretion and there is evidence that different neuropeptides may be involved in the pathophysiology of FHA. Particular attention is paid to such substances as allopregnanolone, neuropeptide Y, corticotropin-releasing hormone, leptin, ghrelin and beta-endorphin. Some studies reveal significant changes in these mentioned substances in patients with FHA. There are also speculations about use some of these substances or their antagonists in the treatment of FHA.

A prospective study of etiology of primary Amenorrhea with especial evaluation for non classic congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

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Moayeri H

2002-07-01

Full Text Available Amenorrhea, an absence of menses is a symptom that generally brings teenagers for evaluation. This study was undertaken to determine the etiology of primary amenorrhea with especial concern to non classic congential adrenal hyperplasia (NC-CAH-due 21 hydroxylase deficiency among female adolescents refered to clinics of Pediatric Endocrinology of Tehran and Iran University of Medical sciences and private office. One hundred and five female adolescents were studied. All patients were examined by pediatric endocrinologist.Routine lab tests, FSH, LH, prolactin, T4, TSH, 17-hydroxyprogesterone and in some cases ACTH Stimulation test for screening of NC-CAH due to 21 OH deficiency were performed. Chromosmal analysis, sonography of the ovaries and CT scan or MRI of the brain was performed in some of them. Forty-three patients (41% had ypergonaldotropic hypogonadism and sixty two patiens (59% ahd hypogonadotropic hypogonadism. Turner’s syndrome and constitutional delay of puberty were the most common causes of primary amenorrhea in our study. The frequency of primary amenorrhea in our study. The frequency of primary amenorrhea due to 21-OH deficient NC-CAH was 6.6% in overall (105 cases. This study shows that in a population with high incidence of consanguineous marriages, some rare genetic disorders such as 21 OH deficient NC-CAH are relatively common

Intracranial chordomas: para and intrasellar localization - report of two cases

International Nuclear Information System (INIS)

Cerioni Junior, M.; Romero, P.C.; Peres, A.J.; Cecilio, S.; Botelho, R.V.; Caldas, J.G.; Settanni, F.

1992-01-01

Two patients with chordomas are reported. One 39-year-old woman with intrasellar chordoma which suffered of galactorrhea, amenorrhea and bi temporal hemianopsia. Another patient, a 50-year-old woman with left parasellar chordoma with proptosis, progressive blindness and left sided facial pain. Clinical and radiological findings, including CT-scan and MRI, are discussed. The MRI in one patient showed a persistent tumor. (author)

Diagnostic pitfalls in the evaluation and management of amenorrhea in adolescents.

Science.gov (United States)

Azurah, Abdul Ghani Nur; Zainuddin, Ani Amelia; Jayasinghe, Yasmin

2013-01-01

Amenorrhea is a common menstrual problem seen in adolescents. Amenorrhea has been shown to have a negative impact on adolescents' quality of life. In this paper we discuss the various causes and investigations of amenorrhea in adolescents and address management dilemmas for specific conditions. Specific approaches in dealing with adolescents using the HEADSS (Home, Education, Activity, Drugs, Sexual activity, Suicidal) approach are discussed.

Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

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Sushma Yalavarthi

2017-01-01

Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

Analysis of amenorrhea after transcatheter uterine artery embolization for uterine fibroids

International Nuclear Information System (INIS)

Chen Xiaoming; Li Yong; Lu Ligong; Hu Baoshan; Luo Pengfei; Du Juan; Zuo Yuewei; Hu Xiaoping; Hong Danhua

2005-01-01

Objective: To investigate the causes of amenorrhea after transcatheter uterine artery embolization (TUAE) for uterine fibroids. Methods: Two hundreds thirty-one cases of uterine fibroids with the range of age from 29 to 51 years (mean, 39.5 years) underwent TUAE between April 1999 and May 2004. TUAE was performed by injecting lipiodol-pingyangmycine emulsion (LPE) into bilateral uterine arteries, followed by administration of gelatin sponge particles in 186 of 231 patients. LPE was prepared with pingyangmycine 8-16 mg and ultra fluid lipiodol 6-20 ml. Results: Amenorrhea occurred in 2 of 231 (0.87%) patients respectively at 3 and 4 months after TUAE. Premature ovarian failure was proved to be etiology of amenorrhea in one patient because her serum estradiol (E 2 ) became decreased and serum follicle-stimulating hormone (FSH) level increased. This woman had normal amenorrhea later after receiving estrogen-progestogen sepuential therapy for 12 months. Another patient's amenorrhea was proved to be associated with endometrial atrophy after TUAE by hysteroscope. Conclusion: Amenorrhea caused by premature ovarian failure and endometrial atrophy may occur in a tiny minority of women undergoing TUAE. (authors)

Primary Amenorrhea with Bilateral Endometriotic Cysts

International Nuclear Information System (INIS)

Jabeen, S.; Raees, M.

2015-01-01

Primary amenorrhea is a common problem. Diagnosis is usually by going through systematic approach of history, examination and investigations. This case had bilateral large endometriotic cysts in the adnexal region. Uterus was normal sized with well-formed endometrium. She underwent laparotomy followed by drainage of endometriotic cysts, stripping and reconstruction of ovaries was performed. Patient was given a trial of combined oral contraceptive pills for two consecutive cycles to observe withdrawal bleeding, but it failed. Till now we are unable to find out such case in literature. Exact case of primary amenorrhea could not be found. (author)

Clinical manifestations of low bone mass in amenorrhea patients with elevated follicular stimulating hormone.

Science.gov (United States)

Yu, Qi; Lin, Shouqing; He, Fangfang; Li, Baoluo; Lin, Yuan; Zhang, Tao; Zhang, Ying

2002-09-01

To study the characteristics of low bone mass in amenorrhea patients with elevated follicular stimulating hormone (FSH). Amenorrhea patients with elevated FSH: Primary amenorrhea 18 cases, secondary amenorrhea 171 cases and age matched controls with normal menstruation, 180 cases. The descriptive parameters were: estrogen, alkaline phosphatase, urinary excretion of calcium to creatine ratio, cortical bone mineral density at the right radius measured by single photon absorptiometry and trabecular bone mineral density at the lumbar vertebra body measured by quantitative computerized tomography. Average E(2) levels in amenorrhea patients is under 150 pmol/L with significantly higher alkaline phosphatase and urine calcium to creatine ratio values than the normal menstruation group. Cortical bone mineral density in the secondary amenorrhea group (655 +/- 69 mg/cm(2)) was significantly lower than that of the normal menstruation group (677 +/- 56 mg/cm(2), P < 0.01). Trabecular bone mineral density in the secondary amenorrhea group (145 +/- 26 mg/cm(3)) was significantly lower than that of the NOR group (192 +/- 28 mg/cm(3), P < 0.001). The disparity with the normal menstruation group is even greater in the primary amenorrhea group. Bone mineral density of the amenorrhea patients was negatively correlated with duration of the menopause. Serum estrodiol levels in amenorrhea patients was so low that bone turnover was accelerated. This led to insufficient bone accumulation and a dramatically drop in trabecular bone mineral density. The extent was closely related to age of onset of amenorrhea and the duration of ovarian failure.

Adolescent smoking, weight changes, and binge-purge behavior: associations with secondary amenorrhea.

Science.gov (United States)

Johnson, J; Whitaker, A H

1992-01-01

The association of secondary amenorrhea with extreme forms of substance use, weight control, and exercise in nonrepresentative samples raises questions as to whether adolescents in the general population who engage in these behaviors are at increased risk for secondary amenorrhea. We examined the prevalence and behavioral correlates of secondary amenorrhea in a county-wide high school population of 2544 girls aged 13 to 18. A survey questionnaire, which elicited menstrual history as well as weight history, weight control practices, level of exercise, and use of cigarettes, wine, and beer, was administered during school hours; absentees were also surveyed. The completion rate was 91%. The 1-year prevalence of secondary amenorrhea was 8.5%. Secondary amenorrhea was associated with smoking one or more packs of cigarettes per day (adjusted relative risk [RRa] = 1.96, 1.21-3.10), with multiple binge-eating behaviors in combination with laxative use or self-induced vomiting (RRa = 4.17, 2.54-6.32), and with weight fluctuation due to weight control (RRa = 2.59, 1.33-4.79). There was no association between amenorrhea and alcohol consumption or exercise level. Estimates of attributable risk are provided and indicate that bulimic behaviors and cigarette smoking may result in a considerable excess of cases of secondary amenorrhea in an adolescent population.

[Chemotherapy-induced amenorrhea in moroccan population: a retrospective cohort study].

Science.gov (United States)

Brahmi, Sami Aziz; Ziani, Fatima Zahra; Youssef, Seddik; Afqir, Said

2016-01-01

Breast cancer is one of the most common cancers in premenopausal women and its treatment may affect their fertility. Indeed, chemotherapy used in breast cancer may cause transient or permanent amenorrhea in premenopausal women. We conducted a retrospective study of young patients with localized breast canceri in the Department of Medical Oncology, Mohammed VI Inuversity Hospital, Oujda, Morocco over a 3-year period from January 2009 to December 2011. The aim of our study was to analyse the impact of chemotherapy-induced amenorrhea (CIA) as well as predictive factors for its occurrence. In our series, 74% of patients had CIA and 33.6% of patients had definitive chemotherapy-induced amenorrhea. Several factors have been studied in search of predictive factors for amenorrhea occurrence. With regard to the age factor, our analysis showed that women over 40 were more likely to have amenorrhea than those aged less than 40 years (95.7% versus 56.1%), with a statistically significant difference (p = 0.003). In our study the incidence of ICA seems comparable to that found in the literature, while age is the predominant predictor of its occurrence.

Hyperprolactinemia with normal serum prolactin: Its clinical significance

Directory of Open Access Journals (Sweden)

Manika Agarwal

2010-01-01

Full Text Available Amenorrhea and infertility with an added feature of galactorrhea makes a provisional diagnosis of hyperprolactinemia. But again, normal serum prolactin with all clinical features of hyperprolactinemia might question the diagnosis and further management. The answer lies in the heterogeneity of the peptide hormone - the immunoactive and the bioactive forms. This has been further illustrated with the help of a case which had been treated with cabergoline.

Cerebrospinal fluid levels of corticotropin-releasing hormone in women with functional hypothalamic amenorrhea.

Science.gov (United States)

Berga, S L; Loucks-Daniels, T L; Adler, L J; Chrousos, G P; Cameron, J L; Matthews, K A; Marcus, M D

2000-04-01

Women with functional hypothalamic amenorrhea are anovulatory because of reduced gonadotropin-releasing hormone drive. Several studies have documented hypercortisolemia, which suggests that functional hypothalamic amenorrhea is stress-induced. Further, with recovery (resumption of ovulation), cortisol decreased and gonadotropin-releasing hormone drive increased. Corticotropin-releasing hormone can increase cortisol and decrease gonadotropin-releasing hormone. To determine its role in functional hypothalamic amenorrhea, we measured corticotropin-releasing hormone in cerebrospinal fluid along with arginine vasopressin, another potent adrenocorticotropic hormone secretagog, and beta-endorphin, which is released by corticotropin-releasing hormone and can inhibit gonadotropin-releasing hormone. Corticotropin-releasing hormone, vasopressin, and beta-endorphin levels were measured in cerebrospinal fluid from 14 women with eumenorrhea and 15 women with functional hypothalamic amenorrhea. Levels of corticotropin-releasing hormone in cerebrospinal fluid and of vasopressin were comparable and beta-endorphin levels were lower in women with functional hypothalamic amenorrhea. In women with established functional hypothalamic amenorrhea, increased cortisol and reduced gonadotropin-releasing hormone are not sustained by elevated cerebrospinal-fluid corticotropin-releasing hormone, vasopressin, or beta-endorphin. These data do not exclude a role for these factors in the initiation of functional hypothalamic amenorrhea.

Heightened cortisol response to exercise challenge in women with functional hypothalamic amenorrhea.

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Sanders, Kristen M; Kawwass, Jennifer F; Loucks, Tammy; Berga, Sarah L

2018-02-01

Functional hypothalamic amenorrhea is characterized by anovulation caused by reduced gonadotropin-releasing hormone drive and is associated with hypercortisolemia that has been linked to heightened hypothalamic-pituitary-adrenal reactivity to common psychological and metabolic challenges. We hypothesized that women with functional hypothalamic amenorrhea would display greater cortisol responses to exercise challenge than ovulatory women with eumenorrhea. We completed a cross-sectional comparison of 9 women with functional hypothalamic amenorrhea and 11 women with eumenorrhea who were of reproductive age, who weighed 90-110% ideal body weight, who did not exercise excessively, and who had no formal psychiatric diagnosis. Subjects completed a 20-minute submaximal exercise challenge using a cycle ergometer in a research exercise laboratory. Heart rate and circulatory cortisol, glucose, and lactate were measured at 10-minute intervals before, during, and after the exercise challenge. Baseline (t= -10 minutes) cortisol, glucose, lactate, and heart rate were comparable between groups. Glucose levels rose modestly during exercise by 2.9% in women with eumenorrhea (P=.4) but declined by 10.6% in functional hypothalamic amenorrhea (P<.03). The nadir in glucose levels in functional hypothalamic amenorrhea occurred at the end of the 20-minute exercise challenge (t= +20 min). Lactate levels rose comparably in both groups (P<.01). Heart rate increased significantly with exercise in both groups (P<.01), but the increase was smaller in subjects with functional hypothalamic amenorrhea (P<.01). Cortisol levels increased during the exercise challenge in both groups (P<.01) and peaked 10 minutes after the exercise ended (t= +30 min). At peak, subjects with functional hypothalamic amenorrhea displayed higher cortisol levels (147±22 [standard error of the mean] ng/mL) than women with eumenorrhea (96±12 ng/mL; P=.05). The mean percent increase over baseline was 62% in women with

Causes of primary amenorrhea: a report of 295 cases in Thailand.

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Tanmahasamut, Prasong; Rattanachaiyanont, Manee; Dangrat, Chongdee; Indhavivadhana, Suchada; Angsuwattana, Surasak; Techatraisak, Kitirat

2012-01-01

The aim of this study was to determine the prevalence of etiologic causes of primary amenorrhea in Thailand. A retrospective study was performed using 295 complete medical records of women with primary amenorrhea who attended the Gynecologic Endocrinology Clinic, Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Thailand from September 1992 to February 2009. The three most common causes of primary amenorrhea were Müllerian agenesis (39.7%), gonadal dysgenesis (35.3%), and hypogonadotropic hypogonadism (9.2%). Amongst 88 cases of gonadal dysgenesis, 59 cases (67.0%) incurred abnormal karyotype including 45X (n=21), mosaic (n=31), and others (n=7). The present study has currently been the largest case series of primary amenorrhea. Müllerian agenesis is the most prevalent cause in our study, while gonadal dysgenesis is the most common cause in the largest-scale study in the USA. Hence, racial, genetic and environmental factors could play roles in the cause of primary amenorrhea. © 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.

Primary amenorrhea in anorexia nervosa: impact on characteristic masculine and feminine traits.

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Baker, Jessica H; Sisk, Cheryl L; Thornton, Laura M; Brandt, Harry; Crawford, Steven; Fichter, Manfred M; Halmi, Katherine A; Johnson, Craig; Jones, Ian; Kaplan, Allan S; Mitchell, James E; Strober, Michael; Treasure, Janet; Woodside, D Blake; Berrettini, Wade H; Kaye, Walter H; Bulik, Cynthia M; Klump, Kelly L

2014-01-01

Animal studies indicate that gonadal hormones at puberty have an effect on the development of masculine and feminine traits. However, it is unknown whether similar processes occur in humans. We examined whether women with anorexia nervosa (AN), who often experience primary amenorrhea, exhibit attenuated feminization in their psychological characteristics in adulthood due to the decrease/absence of gonadal hormones at puberty. Women with AN were compared on a number of psychological characteristics using general linear models on the basis of the presence/absence of primary amenorrhea. Although women with primary amenorrhea exhibited lower anxiety scores than those without primary amenorrhea, in general, results did not provide evidence of attenuated feminization in women with AN with primary amenorrhea. Future research should utilize novel techniques and direct hormone measurement to explore the effects of pubertal gonadal hormones on masculine and feminine traits. Copyright © 2013 John Wiley & Sons, Ltd and Eating Disorders Association.

Clinical significance of combined measurement of serum sex hormones in secondary amenorrhea

International Nuclear Information System (INIS)

Chen Boxun; Chen Yue; Gan Xilun

2004-01-01

Objective: To study the clinical significance of changes of levels of serum sex hormones in the diagnosis of the types of secondary amenorrhea. Methods: Serum sex hormones levels were measured with chemiluminescence in 100 patients with secondary amenorrhea and 42 controls. The serum hormones determined were: estradiol (E 2 )-, progesterone (PROG), follicle stimulating hormone (FSH)-, luteinizing hormone (LH), prolactin (PRL), testosterone (TSTO). Results: Patients with secondary amenorrhea had significantly higher levels of serum FSH, LH and PRL ( P 2 (P<0.05) than those in the controls. Serum levels of PROG and TSTO were about the same in the patients and controls. Conclusion: Determination of serum hormones levels with chemiluminescence is clinically useful for diagnosis of the types of secondary amenorrhea. (authors)

Association of baseline bleeding pattern on amenorrhea with levonorgestrel intrauterine system use.

Science.gov (United States)

Mejia, Manuela; McNicholas, Colleen; Madden, Tessa; Peipert, Jeffrey F

2016-11-01

This study aims to evaluate the effect of baseline bleeding patterns on rates of amenorrhea reported at 12 months in levonorgestrel (LNG) 52 mg intrauterine system (IUS) users. We also assessed the effect of baseline bleeding patterns at 3 and 6 months postinsertion. In this secondary analysis of the Contraceptive CHOICE Project, we included participants who had an LNG-IUS inserted within 1 month of enrollment and continued use for 12 months. Using 12-month telephone survey data, we defined amenorrhea at 12 months of use as no bleeding or spotting during the previous 6 months. We used chi-square and multivariable logistic regression to assess the association of baseline bleeding pattern with amenorrhea while controlling for confounding variables. Of 1802 continuous 12-month LNG-IUS users, amenorrhea was reported by 4.9%, 14.8% and 15.4% of participants at 3, 6 and 12 months, receptively. Participants with light baseline bleeding or short duration of flow reported higher rates of amenorrhea at 3 and 6 months postinsertion (pamenorrhea at 3 and 6 months (pamenorrhea at 12 months than those who reported moderate bleeding (OR adj , 0.36; 95% CI, 0.16-0.69). Women with heavier menstrual bleeding are less likely than women with moderate flow to report amenorrhea following 12 months of LNG-IUS use. Baseline heavy menstrual flow reduces the likelihood of amenorrhea with LNG-IUS use, information that could impact contraceptive counseling. Anticipatory counseling can improve method satisfaction and continuation, an important strategy to continue to reduce unintended pregnancy and abortion rates. Copyright © 2016 Elsevier Inc. All rights reserved.

Chemotherapy-induced amenorrhea in patients with breast cancer with a BRCA1 or BRCA2 mutation.

Science.gov (United States)

Valentini, Adriana; Finch, Amy; Lubinski, Jan; Byrski, Tomasz; Ghadirian, Parviz; Kim-Sing, Charmaine; Lynch, Henry T; Ainsworth, Peter J; Neuhausen, Susan L; Greenblatt, Ellen; Singer, Christian; Sun, Ping; Narod, Steven A

2013-11-01

To determine the likelihood of long-term amenorrhea after treatment with chemotherapy in women with breast cancer who carry a BRCA1 or BRCA2 mutation. We conducted a multicenter survey of 1,954 young women with a BRCA1 or BRCA2 mutation who were treated for breast cancer. We included premenopausal women who were diagnosed with invasive breast cancer between 26 and 47 years of age. We determined the age of onset of amenorrhea after breast cancer for women who were and were not treated with chemotherapy, alone or with tamoxifen. We considered chemotherapy-induced amenorrhea to have occurred when the patient experienced ≥ 2 years of amenorrhea, commencing within 2 years of initiating chemotherapy, with no resumption of menses. Of the 1,426 women who received chemotherapy, 35% experienced long-term amenorrhea. Of the 528 women who did not receive chemotherapy, 5.3% developed long-term amenorrhea. The probabilities of chemotherapy-induced amenorrhea were 7.2% for women diagnosed before age 30 years, 33% for women age 31 to 44 years, and 79% for women diagnosed after age 45 years (P trend amenorrhea was higher for women who received tamoxifen than for those who did not (52% v 29%; P amenorrhea in women who carry a BRCA1 or BRCA2 mutation. The risk of induced long-term amenorrhea does not seem to be greater among mutation carriers than among women who do not carry a mutation.

[Patients with functional hypothalamic amenorrhea are characterized by low serum inhibin B concentrations].

Science.gov (United States)

Podfigurna-Stopa, Agnieszka; Luisi, Stefano; Lazzeri, Lucia; Ciani, Valentina; Meczekalski, Błazej; Petraglia, Felice

2010-05-01

Functional hypothalamic disturbances may be the cause of secondary amenorrhea and are related to aberration in both the pattern of pulsatility and amplitude in the release of gonadotropin-releasing hormone (GnRH) in hypothalamus. Inhibin B, as an ovarian peptide plays a crucial role in reproduction function throughout regulation of folliculotropin (FSH) pituitary production and inhibiting GnRH secretion during the menstrual cycle. To measure and estimate serum inhibin B concentration in patients with functional hypothalamic amenorrhea. Material and methods. The study included 41 women suffering from functional hypothalamic amenorrhea. Secondary amenorrhea was defined as the lack of menstruation lasting at least 90 days not due to pregnancy, characterized by low serum concentrations of lutropin (LH < 5 mIU/ml)) and typical for functional hypothalamic disturbances anamnestic investigation. The control group consists of 40 healthy women with normal menstrual cycles and Body Mass Index (BMI between 18.5- 24.9 kg/m2). Medical history, examination and laboratory analysis of LH, FSH, estradiol (E), prolactin, testosterone and inhibin B were performed (ELISA--enzyme-linked immunosorbent assay). There are statistically lower serum inhibin B, FSH, LH, estradiol and prolactin concentrations in patients with functional hypothalamic amenorrhea in comparison to healthy women. Positive correlation between serum concentration of inhibin B and estradiol concentration was found in patients with functional hypothalamic amenorrhea. Patients with functional hypothalamic amenorrhea are characterized by statistical significant decrease in serum inhibin B concentration in comparison to the control group.

Stress-associated or functional hypothalamic amenorrhea in the adolescent.

Science.gov (United States)

Liu, James H; Bill, Arthur H

2008-01-01

Stress-associated amenorrhea in the adolescent is likely similar to the disorder found in young reproductive-aged adults and is termed hypothalamic amenorrhea. The key defect is an abnormality in the secretion of gonadotropin-releasing hormone. This review examines the current studies that characterize the disorder and the plausible factor(s) that may account for the disturbances in gonadotropin-releasing hormone, and identifies directions for future research in this group of disorders.

[Length of lactational amenorrhea in an urban population of Temuco, Chile].

Science.gov (United States)

Valdés, Patricio; Sierralta, Pablo; Ossa, Ximena; Barría, Angélica

2002-01-01

Studies done in Santiago, Chile show that menses return before the sixth month of puerperium in 50% of lactating women, even in those that continue with exclusive breast feeding. To study the length of lactational amenorrhea in a group of women living in Southern Chile. One hundred fourteen women giving exclusive breast feeding, were followed from the third postpartum month, to determine the length of lactational amenorrhea. Its relationship with general characteristics of the mothers and children and breast feeding pattern was also studied. Sixty six women (58%) recovered their menses before the 6th postpartum month and their length of lactational amenorrhea was 101 +/- 5 days. In the rest of the sample, the length was 277 +/- 10 days. No differences in characteristics of the mothers and children or breast feeding pattern, were observed between these two groups. A short lactational amenorrhea is common in the Chilean population. Clinical characteristics or pattern of breast feeding do not explain the length of LA in this population.

YOUSSEF SYNDROME REVISITED

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Aruna Menon

2017-10-01

Full Text Available Youssef’s syndrome, a rare entity, consists of cyclical haematuria or menouria, amenorrhea associated with vaginal leakage of urine. This was first described by M Youssef, an Egyptian Surgeon in 1957.1 Since then, reports of this rare urogenital fistula have appeared off and on in literature. We present a case subsequent to a ruptured uterus during a trial of labour after a previous Caesarean section. A 26-year-old lady, para 2, presented to the OPD with complaints of intermittent haematuria, increased frequency of micturition and lactational amenorrhea. She also gave history of occasional watery discharge per vaginum, which had subsided by the time of presentation.

Hormone profile in juvenile systemic lupus erythematosus with previous or current amenorrhea

NARCIS (Netherlands)

Silva, Clovis A.; Deen, Maria E. J.; Febronio, Marilia V.; Oliveira, Sheila K.; Terreri, Maria T.; Sacchetti, Silvana B.; Sztajnbok, Flavio R.; Marini, Roberto; Quintero, Maria V.; Bica, Blanca E.; Pereira, Rosa M.; Bonfa, Eloisa; Ferriani, Virginia P.; Robazzi, Teresa C.; Magalhaes, Claudia S.; Hilario, Maria O.

To identify the underlying mechanism of amenorrhea in juvenile systemic lupus erythematosus (JSLE) patients, thirty-five (11.7%) JSLE patients with current or previous amenorrhea were consecutively selected among the 298 post-menarche patients followed in 12 Brazilian pediatric rheumatology centers.

Functional hypothalamic amenorrhea and its influence on women's health.

Science.gov (United States)

Meczekalski, B; Katulski, K; Czyzyk, A; Podfigurna-Stopa, A; Maciejewska-Jeske, M

2014-11-01

Functional hypothalamic amenorrhea (FHA) is one of the most common causes of secondary amenorrhea. There are three types of FHA: weight loss-related, stress-related, and exercise-related amenorrhea. FHA results from the aberrations in pulsatile gonadotropin-releasing hormone (GnRH) secretion, which in turn causes impairment of the gonadotropins (follicle-stimulating hormone and luteinizing hormone). The final consequences are complex hormonal changes manifested by profound hypoestrogenism. Additionally, these patients present mild hypercortisolemia, low serum insulin levels, low insulin-like growth factor 1 (IGF-1) and low total triiodothyronine. The aim of this work is to review the available data concerning the effects of FHA on different aspects of women's health. Functional hypothalamic amenorrhea is related to profound impairment of reproductive functions including anovulation and infertility. Women's health in this disorder is disturbed in several aspects including the skeletal system, cardiovascular system, and mental problems. Patients manifest a decrease in bone mass density, which is related to an increase in fracture risk. Therefore, osteopenia and osteoporosis are the main long-term complications of FHA. Cardiovascular complications include endothelial dysfunction and abnormal changes in the lipid profile. FHA patients present significantly higher depression and anxiety and also sexual problems compared to healthy subjects. FHA patients should be carefully diagnosed and properly managed to prevent both short- and long-term medical consequences.

Leptin: A Link Between Energy Imbalance and Exercise-Induced Amenorrhea in Female Athletes

OpenAIRE

Miles, Marie

2001-01-01

Up to a quarter of female athletes may experience exercise-induced amenorrhea, depending on the type of sport and the level of competition. This amenorrhea is a component of the Female Athlete Triad, a term used to describe three interrelated conditions commonly seen together in the elite female athlete: chronic dieting and/or disordered eating, amenorrhea, and decreased bone mass. Leptin, a hormone secreted by adipose tissue and believed to play a central role in eating behaviors and energy ...

Nomenclature of primary amenorrhea: A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea.

Science.gov (United States)

Shozu, Makio; Ishikawa, Hiroshi; Horikawa, Reiko; Sakakibara, Hideya; Izumi, Shun-Ichiro; Ohba, Takashi; Hirota, Yasushi; Ogata, Tsutomu; Osuga, Yutaka; Kugu, Koji

2017-11-01

The aim of this study was to provide medical terms to describe the condition of a girl who should be evaluated for primary amenorrhea in order to facilitate intervention at an appropriate time. We performed a literature and clinical guidelines search for recent practices with regard to menarche and discussed relevant cases that had been experienced by committee members. Additionally, we theoretically reviewed medical terms defined in the Glossary Book of Obstetrics and Gynecology in Japan (Japan Society of Obstetrics and Gynecology, 3rd edition). The committee for the redefinition of primary amenorrhea proposed the introduction of two terms and the deletion of one term that had been defined by the Japan Society of Obstetrics and Gynecology, instead of changing the age definition of primary amenorrhea. 'Delayed menarche' was introduced to describe a condition in which a girl has never experienced cyclic menstruation (menarche) by 15-17 years of age. 'Late menarche' was also introduced to describe a condition in which a girl has experienced menarche at 15 years of age or older. 'Delayed menstruation,' which was defined as a condition in which a girl experiences menarche at 15-18 years of age, was deleted. The new terms 'delayed menarche' and 'late menarche' were introduced, and the term 'delayed menstruation' was deleted. The new system might help in the early detection and appropriate treatment of primary amenorrhea. © 2017 Japan Society of Obstetrics and Gynecology.

Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India.

Science.gov (United States)

Dutta, Usha R; Ponnala, Rajitha; Pidugu, Vijaya Kumar; Dalal, Ashwin B

2013-05-01

The aim of the present study was to investigate the chromosomal abnormalities and to identify the most prevalent or frequent type of chromosomal abnormalities in cases of amenorrhea from the southern region of India. A total of 637 cases with amenorrhea were analyzed using G- banding, C-banding, Silver staining, and fluorescence in situ hybridization was done wherever necessary. Out of the 637 cases involved in our study, 132 abnormalities were detected. The incidence of chromosomal abnormalities in cases with primary and secondary amenorrhea was around 20.7 %. In addition to the numerical anomalies, various structural aberrations of the X chromosome like deletions, isochromosomes, duplications, ring chromosome, and also male karyotype were detected. Review of the literature and overall incidence of chromosomal abnormalities in patients with amenorrhea suggests the need for cytogenetic analysis to be performed in all the cases referred for amenorrhea with or without short stature. Precise identification of chromosomal abnormalities helps in confirming the provisional diagnosis; it helps the secondary amenorrhea patients in assisted reproduction and to understand the clinical heterogeneity involved and in efficient genetic counseling.

Williams Syndrome and 15q Duplication: Coincidence versus Association.

Science.gov (United States)

Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

2017-01-01

Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

[Cytogenetic features of teenage girls with secondary amenorrhea].

Science.gov (United States)

Nachetova, T A; Nefidova, V E

2014-11-01

Some features of the chromosome apparatus status were studied in 25 adolescent girls, aged 14-18, with secondary amenorrhea and in 29 girls of the same age with a regular menstrual cycle. Materials for cytogenetic analysis were preparations of chromosomes at the stage of metaphase obtained from the culture of the peripheral blood lymphocytes. The technique of the culture preparation was carried out according to the standard method. 2225 metaphase plates were analyzed in girls with secondary amenorrhea, and 2603 plates were tested in their healthy age-mates. An increased total level of chromosomal aberrations and a rise in the frequency of disorders in the chromatid, chromosome and genome types of peripheral blood lymphocytes have been registered in the examined persons as compared with their healthy age-mates. We have shown, that polyploid cell registered in 15 times oftener in adolescent girls with SA as compared with healthy girls. It can be assumed that some marked changes in the frequency of chromosomal aberrations in patients with secondary amenorrhea and in their healthy age-mates may arise both as a result of exposure to the multiple environmental factors and disorders of rather complicated processes of DNA damages reparation.

Clinical significance of determination serum sex hormones levels in patients with secondary amenorrhea

International Nuclear Information System (INIS)

Jiang Hua

2007-01-01

Objective: To explore the clinical significance of changes of serum sex hormones levels in patients with secondary amenorrhea. Methods: Serum levels of E 2 , FSH, LH, PRL and P were detected with RIA in 33 patients with secondary amenorrhea and 30 controls. Results: In the patients, the serum E 2 levels were significantly lower and FSH, LH, PRL and P levels were significantly higher than those in controls (P 2 , FSH, LH, PRL and P levels is of help for assessment of severity of secondary amenorrhea as well as outcome prediction. (authors)

Granulomatous Lobular Mastitis Following Drug-Induced Galactorrhea and Blunt Trauma.

Science.gov (United States)

Cserni, Gábor; Szajki, Károly

1999-11-01

We report a single case of chronic granulomatous lobular mastitis following metoclopramide-related galactorrhea and a blunt trauma in a young parous woman who underwent two conservative operations before becoming symptom-free. We have found only two other literature cases associated with hyperprolactinemia, and our case could be another of this etiologic group. The absence of well-formed granulomas in the first histology specimen in the present case was misleading; it was reinterpreted as granulomatous mastitis only after the second specimen was examined. Reinterpretation was based on the lobular distribution of a lymphoplasmocytic infiltrate (nonspecific chronic lobulitis) and the presence of epithelioid cell sheets and neutrophils in the absence of well-formed granulomas. The case lends further support to the theory of a local immune response initiated by the secreted material or by one of its components in the formation of granulomas. However, contributory factors such as the trauma in this case (a blow from a shovel handle) or systemic disease in others may play a role in the development of the disease, which in some instances may represent a pattern of tissue reactions to different noxious agents.

The complex relationship between hypothalamic amenorrhea and polycystic ovary syndrome.

Science.gov (United States)

Wang, Jeff G; Lobo, Rogerio A

2008-04-01

Polycystic ovarian morphology (PCOM) is occasionally observed in women with hypothalamic amenorrhea (HA). Although these women with HA/PCOM meet two of the Rotterdam criteria, they are excluded from the diagnosis of polycystic ovary syndrome (PCOS) by having HA. We explored the coexistence of these two disorders in women with HA/PCOM by analyzing their androgen response to gonadotropins and by following their clinical characteristics over time. Baseline and dynamic endocrine profiles during controlled ovarian hyperstimulation for women with HA/PCOM [n = 6, median (interquartile range) age 30 yr (28-31), body mass index (BMI) 19.2 kg/m(2) (18.0-19.2)] were retrospectively compared with those of women with PCOS [n = 10, age 33 (31-34), BMI 24.8 (23.2-27.6)] and normoovulatory controls [n = 20, age 33 (31-35), BMI 21.5(20.3-23.1)]. Long-term outcomes for five women with HA/PCOM were followed during their spontaneous recovery from HA. With the exception of decreased LH [0.7 (0.3-0.8) vs. 6.0 IU/liter (4.8-7.4); P = 0.003], FSH [3.9 (2.5-5.7) vs. 7.5 IU/liter (5.3-9.5); P < 0.025], and estradiol [20 (14-24) vs. 32 pg/ml (20-39); P < 0.027], baseline endocrine profiles of women with HA/PCOM did not differ significantly from those of normoovulatory controls in terms of 17alpha-hydroxyprogesterone, dehydroepiandrosterone, dehydroepiandrosterone-sulfate, androstenedione, and total testosterone. However, controlled ovarian hyperstimulation with similar doses of gonadotropins resulted in an excess of androgen production compared with the controls [Deltaandrostenedione per dominant follicle 0.30 (0.23-0.37) vs. 0.10 ng/ml (0.05-0.18), P = 0.005; Deltatestosterone per dominant follicle 16 (7-24) vs. 6 ng/dl (2-12), P = 0.04], and these levels were comparable to those of women with PCOS. Recovery from HA/PCOM in some patients was associated with the development of oligomenorrhea and symptoms of androgen excess. Women with HA/PCOM may have inherently hyperandrogenic ovaries but

Cortisol secretion in patients with normoprolactinemic amenorrhea

DEFF Research Database (Denmark)

Boesgaard, S; Hagen, C; Andersen, A N

1988-01-01

with normoprolactinemic amenorrhea have elevated basal serum cortisol, the reason probably being hypersecretion of corticotropin-releasing hormone. Secondly that dopaminergic blockade with metoclopramide stimulates ACTH and cortisol secretion in patients presumed to have raised dopaminergic activity....

Exercise-associated amenorrhea: are altered leptin levels an early warning sign?

Science.gov (United States)

Warren, Michelle P; Ramos, Russalind H; Bronson, Emily M

2002-10-01

Although the exact cause of the female athlete triad (amenorrhea, disordered eating, and osteoporosis) is unknown, recent research implicates leptin, a hormone that is secreted by adipocytes. Leptin may be an important indicator of nutritional status and may also play a role in reproductive function. Physicians who develop a plan for early recognition and treatment of exercise-induced amenorrhea now may prevent the more serious consequences of osteopenia and osteoporosis later.

Secondary Amenorrhea among Female Athletes. Current Understandings.

Science.gov (United States)

Sasiene, Gwen Hagenbuch

1983-01-01

Research pertaining to female athletes' problems with secondary amenorrhea is reviewed. Studies point to stress, weight loss, anorexia nervosa, obesity, arduous athletic training, and age of onset of training as factors which may contribute to this disorder. (PP)

Menses resumption after cancer treatment-induced amenorrhea occurs early or not at all.

Science.gov (United States)

Jacobson, Melanie H; Mertens, Ann C; Spencer, Jessica B; Manatunga, Amita K; Howards, Penelope P

2016-03-01

To identify factors associated with cancer treatment-induced amenorrhea and time to return of menses. Population-based cohort study. Not applicable. Female cancer survivors who were diagnosed with cancer between the ages of 20 and 35 and were at least 2 years postdiagnosis at the time of recruitment (median = 7 years; interquartile range, 5-11). None. Amenorrhea (≥6 months without menses) and resumption of menses. After excluding women with hysterectomies before cancer diagnosis, 1,043 women were eligible for analysis. Amenorrhea occurred in 31.6% of women. Among women treated with chemotherapy (n = 596), older age at diagnosis (30-35 vs. 20-24 years: adjusted odds ratio [aOR] = 2.37; 95% confidence interval [CI], 1.30, 4.30) and nulligravidity (vs. gravid: aOR = 1.50; 95% CI, 1.02, 2.21) were risk factors for amenorrhea. Among amenorrheic women, menses resumed in most (70.0%), and resumption occurred within 2 years of treatment for 90.0% of women. Survivors of breast cancer were more likely to resume menses at times greater than 1 year compared with lymphoma and pelvic-area cancers. Women diagnosed at older ages, those exposed to chemotherapy, and those exposed to any radiation experienced longer times to return of menses. Women who were older at diagnosis were more likely to have irregular cycles when menses returned. Treatment-induced amenorrhea is common in cancer survivors, although most women resume menses within 2 years. However, once resumed, older women are more likely to have irregular cycles. Age at diagnosis and pregnancy history affect the risk of amenorrhea. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Analysis of the relationship between temporary or permanent amenorrhea and ovarian function after uterine artery embolization

International Nuclear Information System (INIS)

Cao Manrui; He Jianlong; Liu Bingguang; Teng Yan; Sun Lihong

2006-01-01

Objective: To analyze the cases of amenorrhea after uterine artery embolization (UAE) and to find out the relationship with ovarian dysfunction or failure. Methods: Ten cases out of 287 patients with uterus myoma who underwent UAE were found amenorrhea. Six of them had temporary and 4 had permanent amenorrhea (38, 47, 48 and 48 years old). Preprocedural and postprocedural menstruations, blood FSH levels correlative factors including surgical operations, were observed and analyzed. Results: Menstruations of 6 cases with temporary amenorrhea were completely recovered without any significant changes in blood FSH levels, while 4 permanent amenorrhea cases demonstrated significant differences in blood FSH levels after the procedure. Their blood FSH were all > 20 u /L after UAE with one of them > 100 u /L 24 months later and another 38 year-old patient underwent surgical operation of ovaries bilaterally before UAE. Conclusions: Temporary amenorrhea may not mean ovarian dysfunction or failure. The probability of ovarian dysfunction or failure after UAE is low, which mainly occur in the peirmenopausal patients. Consideration of the probability of inducing early ovarian failure, caution should be taken for UAE on the patients having ovarian surgery before. (authors)

Chemotherapy-related amenorrhea after adjuvant paclitaxel-trastuzumab (APT trial).

Science.gov (United States)

Ruddy, Kathryn J; Guo, Hao; Barry, William; Dang, Chau T; Yardley, Denise A; Moy, Beverly; Marcom, P Kelly; Albain, Kathy S; Rugo, Hope S; Ellis, Matthew J; Shapira, Iuliana; Wolff, Antonio C; Carey, Lisa A; Overmoyer, Beth A; Hudis, Clifford; Krop, Ian E; Burstein, Harold J; Winer, Eric P; Partridge, Ann H; Tolaney, Sara M

2015-06-01

Chemotherapy-related amenorrhea (CRA) is associated with infertility and menopausal symptoms. Learning how frequently paclitaxel and trastuzumab cause amenorrhea is important. Most other adjuvant breast cancer therapies induce CRA in approximately 50 % of all premenopausal recipients [1]. 410 patients enrolled on the APT Trial, a single-arm phase 2 adjuvant study of 12 weeks of paclitaxel and trastuzumab followed by nine months of trastuzumab monotherapy. Eligible patients had ≤3 cm node-negative HER2 + breast cancers. Premenopausal enrollees were asked to complete menstrual surveys every 3-12 months for 72 months. Women who responded to at least one survey at least 15 months after chemotherapy initiation (and who did not undergo hysterectomy and/or bilateral oophorectomy or receive ovarian suppressing medications prior to 15 months) were included in this analysis. A participant was defined as having amenorrhea in follow-up if her self-reported last menstrual period at last follow-up was greater than 12 months prior to the survey. Among the 64 women in the evaluable population (median age at study entry 44 years, range 27-52 years), the median time between chemotherapy initiation and last menstrual survey was 51 months (range 16-79). 18 of 64 women (28 %, 95 % CI 18-41 %) were amenorrheic at that time point. Amenorrhea rates among premenopausal women treated with adjuvant paclitaxel and trastuzumab for early stage breast cancer appear lower than those seen historically with standard alkylator-based breast cancer regimens. Future studies are needed to understand the impact of this regimen on related issues of fertility and menopausal symptoms.

Features of polycystic ovary syndrome (PCOS) in women with functional hypothalamic amenorrhea (FHA) may be reversible with recovery of menstrual function.

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Carmina, Enrico; Fruzzetti, Franca; Lobo, Roger A

2018-04-01

Since features of polycystic ovary syndrome (PCOS) have been found to be prevalent in women with functional hypothalamic amenorrhea (FHA), we wished to determine what happens to these features after recovery of menstrual function in FHA Design: Prospective cohort study. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. We measured serum estradiol, LH, FSH, testosterone, DHEAS, anti-Mullerian hormone (AMH), body mass index, and ovarian morphology on transvaginal ultrasound. At baseline, 12 of the 28 women (43%) had increased AMH (>4.7 ng/mL), and higher testosterone and larger ovaries compared to the other 16 women with normal AMH. One year after recovery of menstrual function, in the 12 women with increased AMH, serum AMH, testosterone and ovarian size decreased, while LH and estradiol increased. At one year, only one of the 12 women in the high AMH group developed clinical features of PCOS. In the majority of women with FHA who have PCOS-like features, these features may be due to the hypothalamic state and appear to be reversible. Few women may develop clinical PCOS after recovery.

Pathogenic Features of Dysuria in Young Women with Secondary Amenorrhea Caused by Body Weight Loss.

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Shelkovnikova, N V; Neimark, A I; Taranina, T S; Pichigina, A K; Molodyh, O P; Lushnikova, E L

2016-12-01

We examined 11 women aged 19-26 years (mean age 22.5±3.5 years) with secondary amenorrhea complaining frequent urination over 1.5 years and repeatedly, but unsuccessful treated for overactive bladder and chronic cystitis. The rare cause of sustained urination disorders in young female patients of reproductive age was established: development of secondary amenorrhea caused by weight loss ("cosmetic" amenorrhea) with subsequent estrogene deficit and urogenital atrophy. Morphological examination of the bladder mucosa, an important clue to the diagnosis, helps to identify the true cause of dysuria, urogenital atrophy of the bladder mucosa, in secondary ("cosmetic") amenorrhea, and determine future course of etiopathogenic treatment of sustained dysuria in young women. The treatment is often effective in case of proper and timely diagnosis and the absence of irreversible changes.

Patients with secondary amenorrhea due to tuberculosis ...

African Journals Online (AJOL)

Tuberculosis (TB) is a disease which can affect various organs, including human's genital organs such as the endometrium. Tuberculosis endometritis can cause clinical symptoms of secondary amenorrhea and infertility. Infertility in genital TB caused by the involvement of the endometrium. The case presentation is ...

[Spatial organization of bioelectrical brain activity in epilepsy and amenorrhea of central genesis].

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Avakian, G N; Oleĭnikova, O M; Nerobkova, L N; Dovletkhanova, E R; Mitrofanov, A A; Gusev, E I

2002-01-01

The study aimed at modification of co-herent analysis (CA), as a mathematical method for EEG data processing for objective evaluation of bioelectric brain activity spatial organization in women with epilepsy and secondary amenorrhea of central genesis. One hundred sixty one women (30 with epilepsy, 116 with amenorrhea and 115 controls aged 15 to 41 years) have been examined. Characteristic changes of cortico-cortical inter- and intra-hemisphere relations for patients with catamenial (CTM) and noncatamenial (NCTM) epilepsy in different menstrual cycle terms were found. The most distinct changes were detected in theta-activity analysis. In the beginning of menstrual cycle, the patients with CTM epilepsy exhibited higher CA indices in theta-rhythm range in all right hemisphere pairs studied. On the contrary, patients with NCTM epilepsy exhibited lower CA indices mainly in the right brain hemisphere. alpha-rhythm spatial organization analysis in the same patients showed similar correlations, but they were better expressed in alpha-rhythm generation zone: in the beginning of menstrual cycle CA indices were high in patients with CTM epilepsy and low in those with NCTM epilepsy. Comparing to controls, patients with secondary amenorrhea of central genesis showed most distinct changes in theta-activity towards the CA indices increase in the majority of the leads. In patients with epilepsy and amenorrhea, CA indices of right brain hemisphere and intra-central temporal lead pairs were lower than in patients with amenorrhea without epilepsy by both alpha- and theta-rhythms.

The induction of ovulation by pulsatile administration of GnRH: an appropriate method in hypothalamic amenorrhea.

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Christou, Fotini; Pitteloud, Nelly; Gomez, Fulgencio

2017-08-01

The induction of ovulation by the means of a pump which assures the pulsatile administration of GnRH is a well-known method that applies to women suffering from amenorrhea of hypothalamic origin. Although a simple and efficient method to establish fertility, it is underused. Twelve patients suffering from this condition, 1 Kallmann syndrome, 4 normosmic isolated hypogonadotropic hypogonadism, and 7 functional hypothalamic amenorrhea desiring pregnancy were treated. They underwent one or more cycles of pulsatile GnRH, at a frequency of 90 minutes, either by the intravenous or the subcutaneous route. An initial dose of 5 μg per pulse in the intravenous route was administered and of 15 μg per pulse in the subcutaneous route. The treatment was monitored by regular dosing of gonadotropins, estradiol and progesterone, and the development of follicles and ovulation was monitored by intra-vaginal ultrasonography. All the patients had documented ovulation, after a mean of 17 days on pump stimulation. Single ovulation occurred in 30 of 33 treatment cycles, irrespective of the route of administration. Ovulation resulted in 10 pregnancies over 7 patients (2 pregnancies in 3 of them), distributed in the 3 diagnostic categories. For comparison, a patient with PCOS treated similarly, disclosed premature LH surge without ovulation.

Youssef’s Syndrome following Cesarean Section

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Ozer Birge

2015-01-01

Full Text Available Youssef’s syndrome is characterized by cyclic hematuria (menouria, absence of vaginal bleeding (amenorrhea, and urinary incontinence due to vesicouterine fistula (VUF, the least common of the urogynecological fistulas. Youssef’s syndrome has a variable clinical presentation. A vesicouterine fistula is an abnormal pathway between the bladder and the uterus. The most common cause is lower segment Cesarean section. Conservative treatment may be appropriate in some cases, but surgery is the definitive treatment. Vesicouterine fistula should be suspected in cases presenting with urinary incontinence even years after Cesarean section. Diagnostic tests as well as necessary appropriate surgery should be performed on cases with suspected vesicouterine fistula. We present a 40-year-old multiparous woman with vesicouterine fistula after primary Cesarean section; she presented with urinary incontinence, hematuria, and amenorrhea 1 year after the birth. Here, we discuss our case with the help of previously published studies found in the literature.

Age, anti-müllerian hormone, antral follicles count to predict amenorrhea or oligomenorrhea after chemotherapy with cyclophosphamide.

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D'Avila, Ângela Marcon; Biolchi, Vanderlei; Capp, Edison; Corleta, Helena von Eye

2015-12-14

A cohort study was performed to identify ovarian reserve markers (ORM) that predicts amenorrhea or oligomenorrhea 6 months after cyclophosphamide CTX in women with breast cancer. 52 eumenorrheic patients with breast cancer were enrolled. FSH, anti-Müllerian hormone (AMH), antral follicles count (AFC) were measured before and 6 months after CTX. A logistic regression for independent samples and determination of the ROC curve were performed. The age of 32 years presented 96 % of sensitivity and 39 % of specificity to predict amenorrhea or oligomenorrhea with ROC area under the curve (AUC) of 0.77. ovarian reserve marker (ORM) with power to predict amenorrhea or oligomenorrhea in women after CTX were AMH amenorrhea was 1.87 ng/mL (sensitivity 82 %, specificity 83 %, AUC 0.84) and AFC cutoff was 9 follicles (sensitivity 71 %, specificity 78 %, AUC 0.73). ≥32-years-old women, AMH amenorrhea or oligomenorrhea after CTX with cyclophosphamide. The ORM age (≥32 years) analyzed together with AMH or AFC increases sensitivity and specificity in predicting amenorrhea or oligomenorrhea.

Bone metabolism in anorexia nervosa and hypothalamic amenorrhea.

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Chou, Sharon H; Mantzoros, Christos

2018-03-01

Anorexia nervosa (AN) and hypothalamic amenorrhea (HA) are states of chronic energy deprivation associated with severely compromised bone health. Poor bone accrual during adolescence followed by increased bone loss results in lifelong low bone density, degraded bone architecture, and higher risk of fractures, despite recovery from AN/HA. Amenorrhea is only one of several compensatory responses to the negative energy balance. Other hypothalamic-pituitary hormones are affected and contribute to bone deficits, including activation of hypothalamic-pituitary-adrenal axis and growth hormone resistance. Adipokines, particularly leptin, provide information on fat/energy stores, and gut hormones play a role in the regulation of appetite and food intake. Alterations in all these hormones influence bone metabolism. Restricted in scope, current pharmacologic approaches to improve bone health have had overall limited success. Copyright © 2017 Elsevier Inc. All rights reserved.

Menstrual Abnormalities in a Woman with Acth-Dependent Pituitary Macroadenoma Mimicking Polycystic Ovary Syndrome

OpenAIRE

Chun-Cheng Liao; Shih-Yi Lin; Hsin-Wang Lin; Kuang-Hua Chen; Lan-Hua Chang; Shun-Tien Chen; John Wang

2006-01-01

Objective: Here, we present a case of ACTH-dependent pituitary macroadenoma (Cushing's disease) resulting in secondary amenorrhea mimicking polycystic ovary syndrome (PCOS). Case Report: A 20-year-old nulligravid woman had been suffering from oligomenorrhea, amenorrhea, and moderate hirsutism since the age of 18 years. She visited a gynecologic clinic where PCOS was impressed according to the clinical manifestation and ultrasound finding. The patient responded to medication in the 1st year...

Amenorrhea in the Female Athlete: What to Do and When to Worry.

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Berz, Kate; McCambridge, Teri

2016-03-01

Functional hypothalamic amenorrhea is a diagnosis of exclusion that is common in female athletes, particularly those participating in aesthetic sports (ballet, other dance genres, figure skating, and gymnastics) and endurance sports (cross-country running). Although common, it should be considered abnormal even in the high-level elite athlete. Amenorrhea in combination with low energy availability and low bone density is labeled "the Female Athlete Triad." Studies have demonstrated numerous long-term consequences of athletes suffering from all or a portion of this triad, including increased rate of musculoskeletal injuries, stress fractures, abnormal lipid profiles, endothelial dysfunction, potential irreversible bone loss, depression, anxiety, low self- esteem, and increased mortality. This article provides the clinician with the tools to evaluate an athlete with secondary amenorrhea, reviews the recommended treatment options for affected athletes, and discusses when to return to the activity in an effort to facilitate "healthy" participation. Copyright 2016, SLACK Incorporated.

Exercise-induced amenorrhea and bone health in the adolescent athlete.

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Warren, Michelle P; Chua, Abigail T

2008-01-01

Female participation in high school athletics has increased 800% in the last 30 years. The problem of exercise-induced amenorrhea was initially thought to be analogous to hypoestrogenism, but recent studies suggest that nutritional issues underlie most of the pathophysiology and that the mechanism is different from that seen in the primary hypogonadal state. Exercise-induced amenorrhea can be an indicator of an energy drain, and the presence of the other components of the female athlete triad-bone density loss and eating disorders-must be determined as well. Addressing skeletal problems related to nutritional and hormonal deficiencies in this population is of very high priority.

Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach

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Arjit Agarwal

2017-01-01

Full Text Available Primary amenorrhea is a common diagnostic challenge in the gynecology department, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a gynecologist or a radiologist, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity. We present the case of a 36-year-old female with the complaints of primary amenorrhea with a pelvic mass. The case was approached keeping in view the diagnostic possibilities and applying the role of clinical, radiological, and laboratory analyses. The final diagnosis of Swyer syndrome with gonadoblastoma was made, and she was further subjected to operative resection and hormonal therapy. This study stresses on the approach to a case, wherein the diagnosis was based only on the clinician’s acumen and the radiologist’s expertise, providing a way to simplify the protocol in the evaluation of such types of cases.

Association between low-dose pulsed intravenous cyclophosphamide therapy and amenorrhea in patients with systemic lupus erythematosus: A case-control study

Science.gov (United States)

2011-01-01

Background The risk for amenorrhea following treatment of systemic lupus erythematosus (SLE) patients with low-dose intravenous cyclophosphamide (IVCY) has not been fully explored. Our objective was to ascertain the incidence of amenorrhea following treatment with low-dose IVCY and the association between amenorrhea and the clinical parameters of SLE. Methods A case-control retrospective study of premenopausal women ≤ 45 years old who had been treated for SLE with low-dose IVCY (500 mg/body/pulse) plus high-dose glucocorticoids (0.8-1.0 mg/kg/day of prednisolone; IVCY group) or glucocorticoids alone (0.8-1.0 mg/kg/day of prednisolone; steroid group) in our hospital from 2000 through 2009 was conducted using a questionnaire survey and medical record review. Results Twenty-nine subjects in the IVCY group and 33 subjects in the steroid group returned the questionnaire. A multivariate analysis revealed that age at initiation of treatment ≥ 40 years old was significantly associated with amenorrhea [p = 0.009; odds ratio (OR) 10.2; 95% confidence interval (CI) 1.8-58.7]. IVCY treatment may display a trend for association with amenorrhea (p = 0.07; OR 2.9; 95% CI 0.9-9.4). Sustained amenorrhea developed in 4 subjects in the IVCY group and 1 subject in the steroid group; all of these patients were ≥ 40 years old. Menses resumed in all subjects amenorrhea, our data suggest that patients amenorrhea with low-dose IVCY treatment. A higher risk for sustained amenorrhea following treatment with IVCY is a consideration for patients ≥ 40 years old. PMID:21663683

Incidence of chemotherapy-induced amenorrhea in premenopausal women treated with adjuvant FOLFOX for colorectal cancer.

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Cercek, Andrea; Siegel, Cara L; Capanu, Marinela; Reidy-Lagunes, Diane; Saltz, Leonard B

2013-09-01

Studies indicate that the incidence of young women diagnosed with colorectal cancer is rising, thus there is an increasing number of female colorectal cancer survivors of premenopausal and child-bearing age. Adjuvant FOLFOX (5-fluorouracil, leucovorin, and oxaliplatin) chemotherapy is the most widely used standard treatment for stage III and high-risk stage II colon cancer. We evaluated the incidence of FOLFOX-induced amenorrhea in women age 50 and younger treated with adjuvant therapy for colorectal cancer. A search of pharmacy records identified 119 women age 50 or younger who received adjuvant FOLFOX chemotherapy at Memorial Sloan-Kettering for stage II or III colorectal cancer from January 2002 and January 2011. Eligible patients were mailed an anonymous questionnaire. The returned surveys were reviewed and the results tallied. Seventy-three patients returned the questionnaire. Twenty-four patients were excluded from analysis: 19 were treated with pelvic radiotherapy, 2 patients had undergone bilateral oophorectomy, 2 had a hysterectomy, and 1 stopped menstruating before diagnosis. Forty-nine patient responses were analyzed. In total, 41% (n = 20) experienced amenorrhea during chemotherapy. Sixteen percent had persistent amenorrhea 1 year after completion of chemotherapy. The incidence of amenorrhea during chemotherapy trended higher in patients aged older than 40 compared with patients aged 40 and younger (59% vs. 31% [P = .075]). There was no statistically significant difference in persistent amenorrhea between the 2 age groups (24% vs. 13%; P = .42). In this retrospective series, there appears to be a trend toward FOLFOX induced amenorrhea during chemotherapy increasing with age. Twenty-four percent of women older than the age of 40 were found to have persistent amenorrhea after FOLFOX therapy. Because of the small sample size, the study is underpowered to detect a statistically significant difference between older and younger patients. Prospective studies

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report.

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Meczekalski, Blazej; Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Rydzewski, Bogdan; Sroczynski, Jakub; Lipinska, Małgorzata; Sokalski, Jerzy; Krawczynski, Maciej; Jamsheer, Aleksander; Katulski, Krzysztof; Genazzani, Alessandro

2013-05-01

A case report of a patient diagnosed with Camurati-Engelmann Disease (CED) in association with the functional hypothalamic amenorrhea disturbances. CED is a very rare genetically determined disorder classified as a type of bone dysplasia. Case report. Department of Gynecological Endocrinology, 3rd grade Medical University Hospital. Twenty-one years old female patient with CED admitted to the hospital because of primary amenorrhea. Her history revealed skeletal deformities and hearing impairment. Clinical examination, ultrasound, laboratory evaluations (including serum gonadotropins (FSH, LH) at basal state and after stimulation with gonadotropin-releasing hormone, serum basal estradiol) radiological studies (X-ray of the head, the lumbar spine and lower extremities; a computed tomography of the head), G-banding karyotype, polymerase chain reaction and DNA sequencing. Hormonal serum evaluations were made using an enzyme-linked immunosorbent assay. The exon 4 of the transforming growth factor beta 1 gene was amplified by a polymerase chain reaction and the product was directly sequenced. The hormonal analysis was characteristic for the hypogonadotropic hypogonadism. Radiological and molecular analyses confirmed CED diagnosis. The hypothalamic amenorrhea in a patient with CED may be explained as a consequence of fat hypotrophy and very low body mass index. Therefore, impairment within hypothalamic-pituitary axis in patients with CED should be treated with special attention.

Case of a woman with acromegaly whose presenting complaint was prolonged post-partum amenorrhea.

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Hara, Tomomi; Kanasaki, Haruhiko; Oride, Aki; Moriyama, Masayuki; Kyo, Satoru

2016-10-01

We report a case of a woman who was incidentally diagnosed with acromegaly after referral for prolonged post-partum amenorrhea. A 25-year-old woman, gravida 2 para 1, had a normal transvaginal delivery and breastfeeding had been discontinued more than a year after delivery. Thereafter, spontaneous menstruation did not restart and she underwent hormonal therapy. Subsequently, she was referred to our university hospital for prolonged amenorrhea. Hormonal examination revealed severe hypogonadotropic hypogonadism (luteinizing hormone 0.5 mIU/mL, follicle-stimulating hormone amenorrhea, which revealed mass lesions extending from the pituitary fossa to the suprasellar area with similar signal intensity as the gray matter. In addition, bitemporal hemianopsia was observed on campimetry. After further examination, the patient was diagnosed with acromegaly. © 2016 Japan Society of Obstetrics and Gynecology.

Sheehan fs syndrome co.existing with Graves' disease | Arpaci ...

African Journals Online (AJOL)

Sheehanfs syndrome (SS), which is an important cause of hypopituitarism, is common in developing countries. The most common presentation is the absence of lactation and amenorrhea. Hypothyroidism rather than hyperthyroidism is the usual expected phenomenon in SS. Postpartum hyperthyroidism is also common and ...

Study on the differences between the serum sex hormones levels in menopausal women and patients with secondary amenorrhea

International Nuclear Information System (INIS)

Wang Zhaohui

2007-01-01

Objective: To assess the differences between the ovarian function in menopausal women and patients with secondary amenorrhea with measurement of serum sex hormones levels. Methods: Serum FSH, LH, E 2 prolactin, progesterone and testosterone levels were measured with RIA in: (1) 40 women with normal menstration (2) 40 menopausal women and (3) 40 patients with secondary amenorrhea. Results: Among the three groups, the serum FSH and LH levels wre highest in the menopausal women with secondary amenorrhea patients the next. On the contrary, the serum E 2 levels were lowest in the menopausal women with secondary amenorrhea patients the next. The sreum prolactin levels in women with normal menstruation and menopausal women were about the same and both were significantly lower than those in patients with secondary amenorrhea. The serum progestrone levels were extremely low in menopausal women (0.63 ± 0.39 ng/ml), while the levels in patients with secondary menopause were only moderately decreased (4.91 ± 2. 83 ng/ml vs 11.25 ± 4.51 ng/ml in women with normal menstruation), indicating possible presence of ovulation. Testosterone levels were also lowest in menopausal women. Conclusion: Ovarian atrophy with functional failure was present in menopausal women. Secondury amenorrhea was usually due to dysfunction of hypothalamus-pituitary-ovary-uterus axis (HPOV axis) with rentention of ovarian function. (authors)

Lack of tumor reduction in hyperprolactinemic women with extrasellar macroadenomas treated with bromocriptine

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Boulanger, C.M.; Mashchak, C.A.; Chang, R.J.

1985-10-01

Three patients with hyperprolactinemia and large extrasellar pituitary macroadenomas were treated with bromocriptine, 10 mg daily, for 8 weeks. In spite of correction of their amenorrhea, galactorrhea, and hyperprolactinemia, radiologic evaluation by CT scan failed to show evidence of tumor shrinkage. After surgical resection, histologic examination revealed that PRL-secreting cells comprised only a small portion of the tumor cell population in two patients and in the third patient were completely absent. These cases illustrate that large nonfunctional pituitary tumors may mimic signs and symptoms of a prolactinoma and stress the importance of adequate radiologic evaluation during medical management. 8 references, 3 figures.

Lack of tumor reduction in hyperprolactinemic women with extrasellar macroadenomas treated with bromocriptine

International Nuclear Information System (INIS)

Boulanger, C.M.; Mashchak, C.A.; Chang, R.J.

1985-01-01

Three patients with hyperprolactinemia and large extrasellar pituitary macroadenomas were treated with bromocriptine, 10 mg daily, for 8 weeks. In spite of correction of their amenorrhea, galactorrhea, and hyperprolactinemia, radiologic evaluation by CT scan failed to show evidence of tumor shrinkage. After surgical resection, histologic examination revealed that PRL-secreting cells comprised only a small portion of the tumor cell population in two patients and in the third patient were completely absent. These cases illustrate that large nonfunctional pituitary tumors may mimic signs and symptoms of a prolactinoma and stress the importance of adequate radiologic evaluation during medical management. 8 references, 3 figures

The impact of self-reported oligo-amenorrhea and hirsutism on fertility and lifetime reproductive success: results from the Northern Finland Birth Cohort 1966.

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West, S; Vähäsarja, M; Bloigu, A; Pouta, A; Franks, S; Hartikainen, A-L; Järvelin, M-R; Corbett, S; Vääräsmäki, M; Morin-Papunen, L

2014-03-01

To what extent do self-reported oligo-amenorrhea and hirsutism affect reproductive performance (childlessness, age at first delivery, family size and miscarriage rates)? At the age of 44, among women with both self-reported oligo-amenorrhea and hirsutism the prevalence of childlessness was not significantly different from non-symptomatic women but they had a smaller family size than non-symptomatic women. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by oligo-amenorrhea or amenorrhea, hyperandrogenism and hirsutism and it is the most frequent cause of anovulatory infertility, but there are few studies on the reproductive capacity of women with PCOS. In our previous population-based cohort study the women with self-reported oligo-amenorrhea and hirsutism were found to have more infertility problems and smaller family size than non-symptomatic women at the age of 31. A prospective population-based cohort study. The population of the study is derived from the prospective Northern Finland Birth Cohort 1966 (NFBC1966), comprising all expected births from the year 1966 in the two northernmost provinces of Finland (n = 12 058). Of them, 5889 were females. Enrollment in this database begun at the 24th gestational week and so far data have been collected from the subjects at the ages of 1, 14 and 31 years. A postal questionnaire including questions about oligo-amenorrhea and hirsutism was sent to all women at the age of 31 (n = 5608, response rate 81%, n = 4535) and a clinical examination was performed (attendance rate 76.5%). Those who reported both hirsutism and oligo-amenorrhea were defined as women with both symptoms (n = 153). Data on pregnancies/deliveries were obtained from the Finnish Medical Birth Register (FMBR) in 2010 when the women were 44 years old. Women with both symptoms had delivered at least one child as often as non-symptomatic women [75.2 versus 79.0%, adjusted odds ratio (OR) 0.86, 95% confidence intervals (CI) 0

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

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Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.

Science.gov (United States)

Moysés-Oliveira, Mariana; Guilherme, Roberta Dos Santos; Dantas, Anelisa Gollo; Ueta, Renata; Perez, Ana Beatriz; Haidar, Mauro; Canonaco, Rosane; Meloni, Vera Ayres; Kosyakova, Nadezda; Liehr, Thomas; Carvalheira, Gianna Maria; Melaragno, Maria Isabel

2015-05-01

To map the X-chromosome and autosome breakpoints in women with balanced X-autosome translocations and primary amenorrhea, searching candidate genomic loci for female infertility. Retrospective and case-control study. University-based research laboratory. Three women with balanced X-autosome translocation and primary amenorrhea. Conventional cytogenetic methods, genomic array, array painting, fluorescence in situ hybridization, and quantitative reverse transcription-polymerase chain reaction. Karyotype, copy number variation, breakpoint mapping, and gene expression levels. All patients presented with breakpoints in the Xq13q21 region. In two patients, the X-chromosome breakpoint disrupted coding sequences (KIAA2022 and ZDHHC15 genes). Although both gene disruptions caused absence of transcription in peripheral blood, there is no evidence that supports the involvement of these genes with ovarian function. The ZDHHC15 gene belongs to a conserved syntenic region that encompasses the FGF16 gene, which plays a role in female germ line development. The break in the FGF16 syntenic block may have disrupted the interaction between the FGF16 promoter and its cis-regulatory element. In the third patient, although both breakpoints are intergenic, a gene that plays a role in the DAX1 pathway (FHL2 gene) flanks distally the autosome breakpoint. The FHL2 gene may be subject to position effect due to the attachment of an autosome segment in Xq21 region. The etiology of primary amenorrhea in balanced X-autosome translocation patients may underlie more complex mechanisms than interruption of specific X-linked candidate genes, such as position effect. The fine mapping of the rearrangement breakpoints may be a tool for identifying genetic pathogenic mechanisms for primary amenorrhea. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

A rare case of primary amenorrhea

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Himadri Bal

2016-01-01

Full Text Available Crytomenorrhea arises usually due to the imperforate hymen, sometimes due to vaginal septum, rarely due to cervical agenesis. Here, we present a case of primary amenorrhea resulting from cervical agenesis in a 38-year-old woman. She presented with primary amenorrhea and cyclic lower abdominal pain. She had undergone some surgery 5 years back, details of which were not available. On examination secondary sexual characters were normal, per abdomen there was an 18 weeks size firm abdominopelvic mass. Local vaginal examination showed a blind vaginal pouch. A clinical diagnosis of hematometra due to transverse vaginal septum was made. However, magnetic resonance imaging pelvis suggested hematometra with cervical stenosis. The patient was taken up for examination under anaesthesia (EUA and exploratory laparotomy. On opening the abdomen uterus found to be enlarged with dense adhesions all around and signs of endometriosis. Extensive adhesiolysis revealed bilateral chocolate cysts of ovaries with hematosalpinges and peritubal adhesions. Hysterotomy and drainage of tarry contents were followed by an exploration of the uterine cavity. The lower pole ended blindly with no evidence of any cervix. Peroperative diagnosis of cervical agenesis leading to hematometra and endometriosis was made. A subtotal hysterectomy with bilateral salpingo-oophorectomy was done. Histopathological examination confirmed ovarian endometriosis and adenomyosis of uterus. Though reconstructive surgery for cervical dysgenesis has been successful in some cases, hysterectomy is generally recommended for cervical agenesis.

Treatments to Prevent Bone Loss in Functional Hypothalamic Amenorrhea: A Systematic Review and Meta-Analysis

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Altayar, Osama; Al Nofal, Alaa; Carranza Leon, B. Gisella; Prokop, Larry J.; Wang, Zhen; Murad, M. Hassan

2017-01-01

Objective: We conducted a systematic review and meta-analysis of studies that evaluated the effect of hormonal therapy [estrogen therapy including oral contraceptive pills (OCP)] and bisphosphonates in preventing bone loss in patients with functional hypothalamic amenorrhea (FHA). Methods: We searched several electronic databases for controlled and noncontrolled studies that enrolled females of any age presenting with FHA (including athletic, weight loss, and stress-associated amenorrhea/olig...

[A case of multiple sclerosis with hypothalamic amenorrhea].

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Miyamoto, T; Miyamoto, M; Yokota, N; Kubo, J; Hirata, K

2000-03-01

We present a 31-year-old woman of multiple sclerosis. At age 28, she was admitted with complaints of echolalia and a gradual onset of weakness affecting the right upper and bilateral lower limbs. Brain MRI showed high intensity areas in the bilateral frontal gyri, lobuli paracentralis, and left anterior thalamus. Although she had been in remission for 3 years, she developed dysesthesia of left upper and lower limbs. Cervical T2 weighted MRI showed a new high signal intensity lesion in the spinal cord from the C2 to C3 level. The combination of the cerebral, thalamic and spinal cord lesions with remission and excerbations allowed the diagnosis of clinically MS to be made. She suffered amenorrhea from the onset of her illness. Serum prolactin was within the normal range. The LH and FSH basal secretions were decreased and there were low delayed secretions of LH and FSH after intravenous injection of 100 micrograms LHRH. We consider that her amenorrhea was caused by the hypothalamic lesion, supported by MR findings of dilatation of the third ventricle.

Functional hypothalamic amenorrhea is associated with elevated ghrelin and disordered eating.

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Schneider, Lisa F; Warren, Michelle P

2006-12-01

To determine whether ghrelin, an orexigen released by the stomach, is elevated in women with hypothalamic amenorrhea who are of normal weight and whether this is associated with abnormal eating behaviors. Controlled clinical study. Healthy volunteers in an academic research environment. Twenty-seven women with functional hypothalamic amenorrhea (FHA) and 42 normally menstruating women. None. Ghrelin and eating behavior. Ghrelin was significantly elevated in FHA (648.4 +/- 92.0 pg/mL vs. controls 596.7 +/- 79.0 pg/mL), while leptin, although lower, was not significantly so (FHA 5.4 +/- 2.8 ng/mL vs. controls 6.4 +/- 3 ng/mL). Eating Attitudes Test (EAT) scores were also significantly elevated in FHA (15.3 +/- 10.6 vs. controls 10.3 +/- 8.4), particularly on the subscale that measured bulimic behaviors. However, FHA patients consumed significantly more kilocalories (1,930 kcal/day vs. 1,588 kcal/day). High ghrelin in women with FHA may be linked to abnormal dietary behaviors, as reflected in high EAT scores yet characterized by normal caloric intake. Ghrelin may act as a restraining metabolic signal preventing a return to cyclicity in women with both disordered eating and FHA, prolonging amenorrhea when leptin has returned to normal.

New protocol of clomiphene citrate treatment in women with hypothalamic amenorrhea.

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Borges, Lavinia Estrela; Morgante, Giuseppe; Musacchio, Maria Concetta; Petraglia, Felice; De Leo, Vincenzo

2007-06-01

To determine if a new protocol of administration of clomiphene citrate (CC) is effective in menstrual cycle recovery in women with hypothalamic secondary amenorrhea. This was an open-label study. Patients comprised a group of eight women with secondary amenorrhea. Interventions. An oral preparation containing CC (50 mg/day) was administered for 5 days followed by a double dose (100 mg/day) for another 5 days, initiated on day 3 after estrogen/progestogen-induced withdrawal bleeding. If ovulation and vaginal bleeding occurred, treatment continued in the two next months with 100 mg/day from day 3 to day 7 day of the cycle. Cycle control was evaluated at each visit, when patients recorded bleeding patterns and tablet intake. Data on the intensity and duration of bleeding were collected. Six patients responded to the first cycle of CC administration, resuming normal menstrual cycles. The other two patients failed to menstruate after the first 10 days of treatment with CC and repeated the same protocol. After the second administration, these two women also had normal menstrual bleeding. The present data show that this new protocol of CC treatment may be useful to restore normal menstrual cycles in young women with hypothalamic amenorrhea.

Body composition variables and leptin levels in functional hypothalamic amenorrhea and amenorrhea related to eating disorders.

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Bruni, Vincenzina; Dei, Metella; Morelli, Chiara; Schettino, M Teresa; Balzi, Daniela; Nuvolone, Daniela

2011-12-01

The purpose of the study was to identify diagnostic criteria that can distinguish between subjects with functional hypothalamic amenorrhea largely related to minimal energy deficiency and those in whom failure of adaptive response to stress prevails. We studied 59 young women with secondary amenorrhea related to modest eating disorders and 58 who complained of stressful events in their history. We assessed anthropometric measurements, body composition using dual energy X-ray absorptiometry (DEXA) and bioelectrical impedance analysis (BIA), and basal endocrine profile. Subjects with disordered eating had lower body mass index (BMI), fat mass (FM) measured with both techniques, lumbar mineral density and direct and indirect measures of lean mass. Leptin and free tri-iodothyronine(FT(3)) concentrations also proved lower in the group of subjects with eating disorders, although there was no significant difference in cortisol between the two groups. Leptin levels were positively associated not only with fat mass, but also with body cell mass indexed to height and phase angle, parameters studied with BIA as expression of active lean compartment. A multivariate model confirmed the utility of integrating endocrine data with the study of body composition. The use of bioelectrical impedance analysis proved to be, in clinical use, a valid diagnostic alternative to DEXA, especially considering body cell mass and phase angle. Copyright © 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

YOUSSEF SYNDROME REVISITED

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Aruna Menon; Prajakta S. Mehendale; Srinivas Sangisapu; Ajai Srivastava; Shilpa Asthana

2017-01-01

Youssef’s syndrome, a rare entity, consists of cyclical haematuria or menouria, amenorrhea associated with vaginal leakage of urine. This was first described by M Youssef, an Egyptian Surgeon in 1957.1 Since then, reports of this rare urogenital fistula have appeared off and on in literature. We present a case subsequent to a ruptured uterus during a trial of labour after a previous Caesarean section. A 26-year-old lady, para 2, presented to the OPD with complaints ...

Primary amenorrhea caused by crushing trauma of the pelvis

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Donner, G. G.; Pel, M.; Lammes, F. B.

2000-01-01

An 18-year-old woman sought treatment for primary amenorrhea. Crushing trauma of the pelvis in her childhood had caused separation between the uterine corpus and the cervix. Through a combined abdominal and vaginal approach the continuity of the uterine outflow tract was restored. Years later, after

Increased cortisol responsivity to adrenocorticotropic hormone and low plasma levels of interleukin-1 receptor antagonist in women with functional hypothalamic amenorrhea.

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Lindahl, Magnus S; Olovsson, Matts; Nyberg, Sigrid; Thorsen, Kim; Olsson, Tommy; Sundström Poromaa, Inger

2007-01-01

To assess the hypothalamic-pituitary-adrenal (HPA) axis at all levels, to determine the origin of the previously reported hypercortisolism in patients with functional hypothalamic amenorrhea. A secondary aim was to evaluate factors outside the central nervous system which are known to affect the HPA axis, i.e., circulating levels of interleukin-6 (IL-6), interleukin-1 receptor antagonist (IL-1Ra), and fat mass-adjusted leptin levels, in patients with functional hypothalamic amenorrhea and healthy controls. Cross-sectional study. Umeå University Hospital, Umeå, Sweden. Fifteen subjects with hypothalamic amenorrhea, and 14 age- and weight-matched controls. None. We collected blood samples four times during a 24-hour interval for analysis of cortisol, leptin, IL-1Ra, and IL-6 levels. We performed a low-dose oral dexamethasone test and a low-dose ACTH test. We measured body-fat percentage using a dual-energy X-ray absorptiometer. Patients with hypothalamic amenorrhea had increased diurnal cortisol levels (P<.001). The cortisol response to intravenous low-dose ACTH was increased in functional hypothalamic amenorrhea patients compared to control subjects (P<.01), but they had similar rates of dexamethasone suppression. Patients with hypothalamic amenorrhea also had decreased diurnal leptin (P<.05), and decreased diurnal IL-1Ra levels (P<.05), compared to controls. Body-fat percentage was the main predictor of leptin levels. The present study suggests novel links for the development of functional hypothalamic amenorrhea, including increased adrenal responsiveness and impairments in proinflammatory cytokine pathways.

Function and Innervation of the Locus Ceruleus in a Macaque Model of Functional Hypothalamic Amenorrhea

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Bethea, Cynthia L; Kim, Aaron; Cameron, Judy L

2012-01-01

A body of knowledge implicates an increase in output from the locus ceruleus (LC) during stress. We questioned the innervation and function of the LC in our macaque model of Functional Hypothalamic Amenorrhea, also known as Stress-Induced Amenorrhea. Cohorts of macaques were initially characterized as highly stress resilient (HSR) or stress-sensitive (SS) based upon the presence or absence of ovulation during a protocol involving 2 menstrual cycles with psychosocial and metabolic stress. Afte...

A longitudinal study of disturbances of the hypothalamic-pituitary-adrenal axis in women with progestin-negative functional hypothalamic amenorrhea.

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Kondoh, Y; Uemura, T; Murase, M; Yokoi, N; Ishikawa, M; Hirahara, F

2001-10-01

To longitudinally evaluate disturbances of the hypothalamic-pituitary-adrenal (HPA) axis in women with secondary progestin-negative hypothalamic amenorrhea. Retrospective cohort study. Yokohama City University, Yokohama, Japan. Twenty-four women with progestin-negative hypothalamic amenorrhea. Administration of human corticotropin-releasing hormone (hCRH) and treatment with a combination of estrogen and progesterone. Plasma cortisol and ACTH concentrations and period required for recovery from amenorrhea. Plasma ACTH concentrations 30 and 60 minutes after injection of hCRH and the percent maximum increment (%Cmax) of ACTH were significantly lower in the amenorrheic patients compared with the control group patients. The basal cortisol was significantly higher, and the %Cmax of cortisol was significantly lower. In the 16 patients who recovered from amenorrhea, there was a significant positive correlation (Y = 1.93X-10.8, r = 0.629) between the basal cortisol concentrations (X) and the period for recovery (Y). The serum E2 gradually increased before recovery, and this E2 increase was preceded by changes in the plasma cortisol concentration and the %Cmax values of cortisol and ACTH. The CRH test might be useful for evaluating the roles of stress and for estimating the period required for recovery in hypothalamic amenorrhea.

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

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Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

2016-04-01

Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Serum immunoreactive inhibin levels in polycystic ovarian disease (PCOD) and hypogonadotropic amenorrhea.

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Mizunuma, H; Andoh, K; Obara, M; Yamaguchi, M; Kamijo, T; Hasegawa, Y; Ibuki, Y

1994-08-01

To evaluate the physiological significance of inhibin in various types of amenorrhea, serum immunoreactive (IR)-inhibin levels were measured and compared with those in normal cycling women. Amenorrheic women were as follows: (1) 23 women with PCOD, 11 women with hypogonadotropic amenorrhea (HA, n = 23) and 11 women with regular menstrual cycles. Women with HA were further divided into 2 groups according to the presence or absence of withdrawal bleeding (WDB) after progesterone administration. HA with WDB was categorized as HA1, while HA without as HA 2. Serum IR-inhibin levels in women with PCOD were significantly higher than those in HA 2 and normal women at days 2 to 5 from the onset of menstruation and significantly lower than those in normal women in the mid-luteal phase. A significant positive correlation was obtained between IR-inhibin and FSH in HA 2 (r = 0.681) and HA 1 (r = 0.658), but no significant correlation between these two hormones in PCOD and normal women. These results indicated that basal IR-inhibin levels vary with types of amenorrhea. High IR-inhibin levels in PCOD patients suggest that inhibin plays a part in the discordant gonadotropin secretion in these patients.

Menstrual Abnormalities in a Woman with Acth-Dependent Pituitary Macroadenoma Mimicking Polycystic Ovary Syndrome

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Chun-Cheng Liao

2006-06-01

Conclusion: PCOS is a common disease resulting in secondary amenorrhea. However, Cushing's syndrome resulting from pituitary macroadenoma should also be considered. Therefore, a careful history, observation, physical examination, and endocrine studies can differentiate between patients with PCOS and Cushing's disease.

Understanding the Female Athlete Triad: Eating Disorders, Amenorrhea, and Osteoporosis.

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Beals, Katherine A.; Brey, Rebecca A.; Gonyou, Julianna B.

1999-01-01

Examines three disorders that can affect female athletes who focus on succeeding athletically and achieving a prescribed body weight: disordered eating, amenorrhea, and osteoporosis. The paper presents prevention and treatment suggestions for athletes with eating disorders, focusing on primary, secondary, and tertiary prevention. Recommends that…

Amenorrhea after Endoscopic Third Ventriculostomy for a Failed Shunt in Spina Bifida: Case Report and Review of the Literature.

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Giordano, Flavio; Spacca, Barbara; Danti, Alfredo; Taverna, Maria; Losi, Stefania; Stagi, Stefano; Genitori, Lorenzo

2016-01-01

Secondary endoscopic third ventriculostomy (ETV) for the management of shunt failure may be efficacious, though it may be followed by more frequent complications (including endocrinological impairment, e.g., amenorrhea) compared to primary ETV. These complications are usually underreported in the literature. We report a case of secondary amenorrhea after ETV for the management of shunt failure in a young woman with hydrocephalus associated with myelomeningocele. A 25-year-old woman affected by hydrocephalus and myelomeningocele was admitted for secondary ETV for the management of shunt failure. The endoscopic procedure was preferred over shunt revision based on good results of secondary ETV, especially in patients with hydrocephalus associated with Chiari II malformation and spina bifida. Despite the surgery being uneventful, the patient had early (postoperative seizure) and late (secondary amenorrhea) complications. In the early postoperative period, she received external ventricular drainage followed by VP shunt reimplantation 2 weeks later. There was no neurological morbidity, but 1 month after the ETV she reported secondary amenorrhea and weight gain. Laboratory investigations ruled out hyperprolactinemia, which had been treated with cabergoline administration with no efficacy since the patient was still without regular periods 1 year later. ETV may be followed by endocrinological complications like amenorrhea that are rarely reported. © 2015 S. Karger AG, Basel.

Steroidogenic factor-1 (SF-1 gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

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Servant Nadège

2010-03-01

Full Text Available Abstract Background Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence. Methods We directly sequenced SRY, SF1 and WT1 genes in 15 adolescent girls with primary amenorrhea, low testosterone concentration, and XY karyotype, to determine the prevalence of mutations. We also analyzed the LH receptor gene in patients with high LH and normal FSH concentrations. Results Among the 15 adolescents with primary amenorrhea and low testosterone concentration, we identified two new SRY mutations, five new SF1 mutations and one new LH receptor gene mutation. Our study confirms the 10-15% prevalence of SRY mutations and shows the high prevalence (33% of SF1 abnormalities in primary amenorrhea due to 46,XY DSD with low plasma testosterone concentration. Conclusions The genetic analysis of low-testosterone primary amenorrhea is complex as several factors may be involved. This work underlines the need to systematically analyze the SF1 sequence in girls with primary amenorrhea due to 46,XY DSD and low testosterone, as well as in newborns with 46,XY DSD.

Patients with secondary amenorrhea due to tuberculosis endometritis towards the induced anti-tuberculosis drug category 1.

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Perdhana, Raditya; Sutrisno, Sutrisno; Sugiri, Yani Jane; Baktiyani, Siti Candra Windu; Wiyasa, Arsana

2016-01-01

Tuberculosis (TB) is a disease which can affect various organs, including human's genital organs such as the endometrium. Tuberculosis endometritis can cause clinical symptoms of secondary amenorrhea and infertility. Infertility in genital TB caused by the involvement of the endometrium. The case presentation is 33-year-old woman from dr. Saiful Anwar Public Hospital to consult that she has not menstruated since 5 years ago (28 years old). The diagnosis was done by performing a clinical examination until the diagnosis of secondary amenorrhea due to tuberculosis endometritis is obtained. A treatment by using category I of anti-tuberculosis drugs was done for 6 months, afterward an Anatomical Pathology observation found no signs of the tuberculosis symptoms. Based on that, patient, who was diagnosed to have secondary amenorrhea due to tuberculosis endometritis, has no signs of tuberculosis process after being treated by using category I of anti-tuberculosis drugs for 6 months.

Androgens in women with anorexia nervosa and normal-weight women with hypothalamic amenorrhea.

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Miller, K K; Lawson, E A; Mathur, V; Wexler, T L; Meenaghan, E; Misra, M; Herzog, D B; Klibanski, A

2007-04-01

Anorexia nervosa and normal-weight hypothalamic amenorrhea are characterized by hypogonadism and hypercortisolemia. However, it is not known whether these endocrine abnormalities result in reductions in adrenal and/ or ovarian androgens or androgen precursors in such women, nor is it known whether relative androgen deficiency contributes to abnormalities in bone density and body composition in this population. Our objective was to determine whether endogenous androgen and dehydroepiandrosterone sulfate (DHEAS) levels: 1) are reduced in women with anorexia nervosa and normal-weight hypothalamic amenorrhea, 2) are reduced further by oral contraceptives in women with anorexia nervosa, and 3) are predictors of weight, body composition, or bone density in such women. We conducted a cross-sectional study at a general clinical research center. A total of 217 women were studied: 137 women with anorexia nervosa not receiving oral contraceptives, 32 women with anorexia nervosa receiving oral contraceptives, 21 normal-weight women with hypothalamic amenorrhea, and 27 healthy eumenorrheic controls. Testosterone, free testosterone, DHEAS, bone density, fat-free mass, and fat mass were assessed. Endogenous total and free testosterone, but not DHEAS, were lower in women with anorexia nervosa than in controls. More marked reductions in both free testosterone and DHEAS were observed in women with anorexia nervosa receiving oral contraceptives. In contrast, normal-weight women with hypothalamic amenorrhea had normal androgen and DHEAS levels. Lower free testosterone, total testosterone, and DHEAS levels predicted lower bone density at most skeletal sites measured, and free testosterone was positively associated with fat-free mass. Androgen levels are low, appear to be even further reduced by oral contraceptive use, and are predictors of bone density and fat-free mass in women with anorexia nervosa. Interventional studies are needed to confirm these findings and determine whether

Incidence of chemotherapy- and chemoradiotherapy-induced amenorrhea in premenopausal women with stage II/III colorectal cancer.

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Wan, Juefeng; Gai, Ya; Li, Guichao; Tao, Zhonghua; Zhang, Zhen

2015-03-01

The incidence rates of colorectal cancer (CRC) in young individuals are increasing. There has been a significant improvement in overall survival in CRC because of advances in adjuvant chemotherapy and chemoradiotherapy over the past decades. However, these procedures may compromise the function of the reproductive system, and ovarian failure and premature menopause may occur. The objective of this analysis was to determine the incidence of long-term amenorrhea (≥ 12 months) in women with CRC aged 40 years and younger after adjuvant treatment. The authors identified 162 premenopausal women with CRC aged 40 years or younger who were treated with adjuvant chemotherapy and chemoradiotherapy at Fudan University Shanghai Cancer Center from January 2008 to December 2012. One hundred twenty-three patients met all eligibility criteria and had sufficient follow-up for evaluation. The median age at diagnosis in patients with colon and rectal cancers was, respectively, 36 and 35 years (range, 17-40 and 24-40 years). All patients had regular menses before treatment; 3 patients with colon cancer (4.2%) experienced long-term amenorrhea, and 48 patients with rectal cancer (94.1%) experienced long-term amenorrhea. The incidence of amenorrhea was significantly lower in patients with colon cancer (4.2%; 3 of 72) than in patients with rectal cancer (94.1%; 48 of 51) (P amenorrhea in patients with colon and rectal cancers was 4.2% and 94.1%, respectively. We believe our data support the fact that young female patients with CRC, especially those with rectal cancer who are scheduled to undergo pelvic irradiation, should be counseled regarding fertility preservation options, including ovarian transposition and cryopreservation of ovarian tissue, embryo, or oocyte. Copyright © 2015 Elsevier Inc. All rights reserved.

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome: a case report

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He Anguang

2011-09-01

Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.

Leptin is an effective treatment for hypothalamic amenorrhea

OpenAIRE

Chou, Sharon H.; Chamberland, John P.; Liu, Xiaowen; Matarese, Giuseppe; Gao, Chuanyun; Stefanakis, Rianna; Brinkoetter, Mary T.; Gong, Huizhi; Arampatzi, Kalliopi; Mantzoros, Christos S.

2011-01-01

Hypothalamic amenorrhea (HA) is associated with dysfunction of the hypothalamic-pituitary-peripheral endocrine axes, leading to infertility and bone loss, and usually is caused by chronic energy deficiency secondary to strenuous exercise and/or decreased food intake. Energy deficiency also leads to hypoleptinemia, which has been proposed, on the basis of observational studies as well as an open-label study, to mediate the neuroendocrine abnormalities associated with this condition. To prove d...

Primary amenorrhea in adolescent girls: normal coitus or not? Always take a look in the physician's office.

Science.gov (United States)

Bacopoulou, Flora; Creatsas, George; Chrousos, George P; Papanikolaou, Nikoleta; Deligeoroglou, Efthimios

2014-02-10

Primary care physicians are frequently faced with the challenge of evaluating primary amenorrhea in adolescent girls. Approximately 15% of these women have abnormal genital examination, with Müllerian agenesis being the second most frequent cause. We report two cases of adolescents with Müllerian agenesis that presented to a tertiary adolescent medicine center with primary amenorrhea and the very rare sexual phenomenon of urethral coitus. The aim of this report is to emphasize the importance of performing a genital examination in girls who present with amenorrhea in the primary care setting, even if 'normal' vaginal sexual activity is assumed. A 19-year-old Caucasian and a 16-year-old Filipino girl presented to a tertiary adolescent medicine center with primary amenorrhea and a history of 'normal' vaginal coitus. Investigation revealed Müllerian agenesis in association with urethral coitus in both cases; neither patient suffered significant urethral damage to require urethra reconstruction. However, the first adolescent had recurrent pyelonephritis and renal scarring and the second had dysuria.To the best of our knowledge, Case 1 also represents the second reported case of pituitary prolactinoma in association with Müllerian agenesis. The first adolescent underwent a hernia repair and vaginoplasty, whereas the second had vaginal dilatations. Our cases highlight the need for careful assessment of the external genitalia and vagina patency in all girls with amenorrhea, even if they report 'normal' vaginal sexual activity. Early identification of anatomic disorders such as Müllerian agenesis, will allow provision of proper care according to the patient's needs and the existing abnormalities, and prevention of rare, unintentional but potentially physically and emotionally harmful, patterns of sexual intercourse.

Hyperandrogenism in female athletes with functional hypothalamic amenorrhea: a distinct phenotype

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Javed A

2015-01-01

/dL (P=0.01 but not different from FHA-AN (P=0.31. Percentage of women with stress fractures was lower in FHA-EX+HA (4.5% as compared to both FHA-EX (27.3% and FHA-AN (50%; P=0.04 and 0.01 respectively. The LH/FSH ratio was weakly positively associated with serum glucose (adjusted r2=0.102; P=0.01 as well as with dual-energy X-ray absorptiometry spine score (adjusted r2=0.191; P=0.04 in the entire cohort.Conclusion: In a small cohort of female athletes with hyperandrogenism, a distinct reproductive hormone profile consisting of higher LH to FHS ratio may be associated with adverse metabolic health markers but improved skeletal health. Keywords: functional hypothalamic amenorrhea, hyperandrogenism, polycystic ovary syndrome, young athletes

[Analysis of genomic copy number variations in two sisters with primary amenorrhea and hyperandrogenism].

Science.gov (United States)

Zhang, Yanliang; Xu, Qiuyue; Cai, Xuemei; Li, Yixun; Song, Guibo; Wang, Juan; Zhang, Rongchen; Dai, Yong; Duan, Yong

2015-12-01

To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism. G-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR). No abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH. Two CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.

Pivagabine decreases stress-related hormone secretion in women with hypothalamic amenorrhea.

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Genazzani, A D; Stomati, M; Bersi, C; Luisi, S; Fedalti, M; Santuz, M; Esposito, G; Petraglia, F; Genazzani, A R

2000-09-01

Stress-induced neuroendocrine activities influence the regulation of endocrine glands and axes. Weight loss-related hypothalamic amenorrhea is a typical stress-induced physiopathological condition. It is characterized by increased adrenal cortex activation and by reduced GH, LH, FSH and gonadal steroid hormone levels. The aim of the present study was to investigate the effects of pivagabine, a neurotropic drug (1800 mg/day for 7 days) or placebo administration on ACTH, cortisol, GH, LH, FSH and PRL plasma levels in patients with hypothalamic amenorrhea related to weight loss. Hormonal parameters and the pulsatile release of cortisol (6-hour pulsatility, sampling every 10 minutes) were evaluated before and after 7 days of treatment. Pivagabine administration significantly reduced mean plasma ACTH (from 21.7+/-1.7 to 15.4+/-1.2 pg/ml, p<0.05) and cortisol levels (from 12.2+/-0.7 to 9.7+/-0.7 ng/ml, p<0.05) and increased GH levels (from 1.4+/-0.5 to 3.0+/-0.9 ng/ml, p<0.05). A significant reduction of cortisol pulse amplitude was observed (p<0.01) while no change in pulse frequency occurred. No changes were observed in placebo-treated subjects. LH, FSH and PRL levels were not modified by placebo or pivagabine administration. In conclusion, in patients with hypothalamic amenorrhea related to weight loss pivagabine induced a significant decrease of cortisol secretion and an increase of GH release by pivagabine administration, suggesting that this drug exerts a specific neuroendocrine modulatory role.

Herbal Medicine for Oligomenorrhea and Amenorrhea: A Systematic Review of Ancient and Conventional Medicine.

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Moini Jazani, Arezoo; Hamdi, Kobra; Tansaz, Mojgan; Nazemiyeh, Hossein; Sadeghi Bazargani, Homayoun; Fazljou, Seyed Mohammad Bagher; Nasimi Doost Azgomi, Ramin

2018-01-01

Menstrual bleeding cessation is one of the most frequent gynecologic disorders among women in reproductive age. The treatment is based on hormone therapy. Due to the increasing request for alternative medicine remedies in the field of women's diseases, in present study, it was tried to overview medicinal plants used to treat oligomenorrhea and amenorrhea according to the pharmaceutical textbooks of traditional Persian medicine (TPM) and review the evidence in the conventional medicine. This systematic review was designed and performed in 2017 in order to gather information regarding herbal medications of oligomenorrhea and amenorrhea in TPM and conventional medicine. This study had several steps as searching Iranian traditional medicine literature and extracting the emmenagogue plants, classifying the plants, searching the electronic databases, and finding evidences. To search traditional Persian medicine references, Noor digital library was used, which includes several ancient traditional medical references. The classification of plants was done based on the repetition and potency of the plants in the ancient literatures. The required data was gathered using databases such as PubMed, Scopus, Google Scholar, Cochrane Library, Science Direct, and web of knowledge. In present study of all 198 emmenagogue medicinal plants found in TPM, 87 cases were specified to be more effective in treating oligomenorrhea and amenorrhea. In second part of present study, where a search of conventional medicine was performed, 12 studies were found, which had 8 plants investigated: Vitex agnus-castus, Trigonella foenum-graecum, Foeniculum vulgare, Cinnamomum verum, Paeonia lactiflora, Sesamum indicum, Mentha longifolia, and Urtica dioica. Conclusion . Traditional Persian medicine has proposed many different medicinal plants for treatment of oligomenorrhea and amenorrhea. Although just few plants have been proven to be effective for treatment of menstrual irregularities, the results and

Herbal Medicine for Oligomenorrhea and Amenorrhea: A Systematic Review of Ancient and Conventional Medicine

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Arezoo Moini Jazani

2018-01-01

Full Text Available Introduction. Menstrual bleeding cessation is one of the most frequent gynecologic disorders among women in reproductive age. The treatment is based on hormone therapy. Due to the increasing request for alternative medicine remedies in the field of women’s diseases, in present study, it was tried to overview medicinal plants used to treat oligomenorrhea and amenorrhea according to the pharmaceutical textbooks of traditional Persian medicine (TPM and review the evidence in the conventional medicine. Methods. This systematic review was designed and performed in 2017 in order to gather information regarding herbal medications of oligomenorrhea and amenorrhea in TPM and conventional medicine. This study had several steps as searching Iranian traditional medicine literature and extracting the emmenagogue plants, classifying the plants, searching the electronic databases, and finding evidences. To search traditional Persian medicine references, Noor digital library was used, which includes several ancient traditional medical references. The classification of plants was done based on the repetition and potency of the plants in the ancient literatures. The required data was gathered using databases such as PubMed, Scopus, Google Scholar, Cochrane Library, Science Direct, and web of knowledge. Results. In present study of all 198 emmenagogue medicinal plants found in TPM, 87 cases were specified to be more effective in treating oligomenorrhea and amenorrhea. In second part of present study, where a search of conventional medicine was performed, 12 studies were found, which had 8 plants investigated: Vitex agnus-castus, Trigonella foenum-graecum, Foeniculum vulgare, Cinnamomum verum, Paeonia lactiflora, Sesamum indicum, Mentha longifolia, and Urtica dioica. Conclusion. Traditional Persian medicine has proposed many different medicinal plants for treatment of oligomenorrhea and amenorrhea. Although just few plants have been proven to be effective for

Herbal Medicine for Oligomenorrhea and Amenorrhea: A Systematic Review of Ancient and Conventional Medicine

Science.gov (United States)

Tansaz, Mojgan; Nazemiyeh, Hossein; Fazljou, Seyed Mohammad Bagher

2018-01-01

Introduction Menstrual bleeding cessation is one of the most frequent gynecologic disorders among women in reproductive age. The treatment is based on hormone therapy. Due to the increasing request for alternative medicine remedies in the field of women's diseases, in present study, it was tried to overview medicinal plants used to treat oligomenorrhea and amenorrhea according to the pharmaceutical textbooks of traditional Persian medicine (TPM) and review the evidence in the conventional medicine. Methods This systematic review was designed and performed in 2017 in order to gather information regarding herbal medications of oligomenorrhea and amenorrhea in TPM and conventional medicine. This study had several steps as searching Iranian traditional medicine literature and extracting the emmenagogue plants, classifying the plants, searching the electronic databases, and finding evidences. To search traditional Persian medicine references, Noor digital library was used, which includes several ancient traditional medical references. The classification of plants was done based on the repetition and potency of the plants in the ancient literatures. The required data was gathered using databases such as PubMed, Scopus, Google Scholar, Cochrane Library, Science Direct, and web of knowledge. Results In present study of all 198 emmenagogue medicinal plants found in TPM, 87 cases were specified to be more effective in treating oligomenorrhea and amenorrhea. In second part of present study, where a search of conventional medicine was performed, 12 studies were found, which had 8 plants investigated: Vitex agnus-castus, Trigonella foenum-graecum, Foeniculum vulgare, Cinnamomum verum, Paeonia lactiflora, Sesamum indicum, Mentha longifolia, and Urtica dioica. Conclusion. Traditional Persian medicine has proposed many different medicinal plants for treatment of oligomenorrhea and amenorrhea. Although just few plants have been proven to be effective for treatment of menstrual

Radiological and orthopedic abnormalities in Satoyoshi syndrome

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Haymon, M.L. [Children`s Hospital, New Orleans, LA (United States). Dept. of Radiology; Willis, R.B. [Children`s Hospital, New Orleans, LA (United States). Dept. of Orthopedics; Ehlayel, M.S. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics; Lacassie, Y. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics]|[Children`s Hospital, New Orleans, LA (United States). Dept. of Pediatrics

1997-05-01

Satoyoshi syndrome is a are disorder on unknown etiology characterized by progressive, painful intermittent muscle spasms, serve skeletal abnormalities mimicking a skeletal dyplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20{sup 1}/{sub 2}-year-old Caucasian woman whith characteristic manifestation of the syndrome. Since the establishment of the diagnostic 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi.

Radiological and orthopedic abnormalities in Satoyoshi syndrome

International Nuclear Information System (INIS)

Haymon, M.L.; Willis, R.B.; Ehlayel, M.S.; Louisiana State Medical Center, New Orleans, LA; Lacassie, Y.; Louisiana State Medical Center, New Orleans, LA; Children's Hospital, New Orleans, LA

1997-01-01

Satoyoshi syndrome is a are disorder on unknown etiology characterized by progressive, painful intermittent muscle spasms, serve skeletal abnormalities mimicking a skeletal dyplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20 1 / 2 -year-old Caucasian woman whith characteristic manifestation of the syndrome. Since the establishment of the diagnostic 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

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Ben Hadj Hmida, Imen; Mougou-Zerelli, Soumaya; Hadded, Anis; Dimassi, Sarra; Kammoun, Molka; Bignon-Topalovic, Joelle; Bibi, Mohamed; Saad, Ali; Bashamboo, Anu; McElreavey, Ken

2016-07-01

To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls. Whole exome sequencing. University cytogenetics center. Three patients with unexplained 46,XY primary amenorrhea were included in the study. Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents' DNA was available. Exome sequencing was performed in the three patients, and the data were analyzed for potentially pathogenic mutations. The functional consequences of mutations were predicted. Three novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene were identified:c.1573 C→T, p.Gln525Ter, c.1435 C→T p.Arg479Ter, and c.508 C→T, p.Gln170Ter. Inactivating mutations of the LHCGR gene may be a more common cause of 46,XY primary amenorrhea than previously considered. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Exercise-Associated Amenorrhea: Are Altered Leptin Levels an Early Warning Sign?

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Warren, Michelle P.; Ramos, Russalind H.; Bronson, Emily M.

2002-01-01

Although the exact cause of the female athlete triad (amenorrhea, disordered eating, and osteoporosis) is unknown, recent research implicates leptin, a hormone secreted by adipocytes. Leptin may be an important indicator of nutritional status and may play a role in reproductive function. Physicians who develop a plan for early recognition and…

Gonadotropin-releasing hormone for infertility in women with primary hypothalamic amenorrhea. Toward a more-interventional approach.

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Kesrouani, A; Abdallah, M A; Attieh, E; Abboud, J; Atallah, D; Makhoul, C

2001-01-01

To assess the effectiveness of a protocol of pulsatile gonadotropin releasing-hormone (GnRH) in treating infertility in women with primary hypothalamic amenorrhea. Retrospective analysis of 44 cycles treated at an infertility center. Twenty-four patients with primary hypothalamic amenorrhea were treated intravenously with pulsatile GnRH using 5 micrograms per bolus every 90 minutes. Ultrasound monitoring and cervical assessment by Insler's scoring system allowed timed injection of human chorionic gonadotropin (hCG) and intrauterine insemination if needed. Luteal support was provided with hCG. The ovulation rate was 95% with the 5-microgram dose. A single follicle was produced in 91% of cycles. The overall pregnancy rate per ovulatory cycle was 45%, and the pregnancy rate per patient was 83%. In patients treated previously with exogenous gonadotropins, poor results were observed. Only one case of mild overstimulation was reported. Pulsatile GnRH is an effective and safe method of treating infertility in women with primary hypothalamic amenorrhea, thus simulating normal ovulation; however, more-interventional management, including the qualitative estrogenic response, may lead to optimal results and increase the pregnancy rate.

A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report

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Yamagishi Masakazu

2010-10-01

Full Text Available Abstract Introduction The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported. Case presentation A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136/90 mmHg accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis of hereditary heart-hand syndrome was made. Conclusion No established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control.

Endocrine profiles and neuropsychologic correlates of functional hypothalamic amenorrhea in adolescents.

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Bomba, Monica; Gambera, Alessandro; Bonini, Luisa; Peroni, Maria; Neri, Francesca; Scagliola, Pasquale; Nacinovich, Renata

2007-04-01

To determine trigger factors and neuropsychologic correlates of functional hypothalamic amenorrhea (FHA) in adolescence and to evaluate the correlations with the endocrine-metabolic profile. Cross-sectional comparison of adolescents with FHA and eumenorrheic controls Academic medical institution Twenty adolescent girls with FHA (aged <18 years) and 20 normal cycling girls All subjects underwent endocrine-gynecologic (hormone) and neuropsychiatric (tests and interview) investigations. A separate semistructured interview was also used to investigate parents. Gonadotropins, leptin, prolactin, androgens, estrogens, cortisol, carrier proteins (SHBG, insulin-like growth factor-binding protein 1), and metabolic parameters (insulin, insulin-like growth factor 1, thyroid hormones) were assayed in FHA and control subjects. All girls were evaluated using a test for depression, a test for disordered eating, and a psychodynamic semistructured interview. Adolescents with FHA showed a particular susceptibility to common life events, restrictive disordered eating, depressive traits, and psychosomatic disorders. The endocrine-metabolic profile was strictly correlated to the severity of the psychopathology. Functional hypothalamic amenorrhea in adolescence is due to a particular neuropsychologic vulnerability to stress, probably related to familial relationship styles, expressed by a proportional endocrine impairment.

Serum Levels of Tryptophan, 5-Hydroxytryptophan and Serotonin in Patients Affected with Different Forms of Amenorrhea

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S. Comai

2010-01-01

Full Text Available Tryptophan (Trp is present in the serum, partly bound to albumine and in the free form. The unbound portion of circulating tryptophan has the property of crossing the hematoencephalic barrier and being converted within the brain into serotonin (5-HT through the enzymatic processes of hydroxylation and decarboxylation. The serotoninergic system plays an important role in neuroendocrine control of reproductive hormone secretion, and in particular, it may influence GnRH pulsatility, a function essential for reproductive processes. In this study, we analysed serum levels of tryptophan, serotonin and 5-hydroxytryptophan (5-HTP in women with three different forms of amenorrhea: 16 patients were diagnosed with anorexia nervosa, 60 patients with functional hypothalamic amenorrhea, and 14 patients with hyperprolactinemia. Data were compared with those of a group of 25 healthy women. Serum Trp levels were significantly (P ≤ 0.05 lower in the anorexic (11.64 ± 0.53 μg/ml, mean ± S.E. than in the control (12.98 ± 0.37 μg/ml groups. In addition, in the anorexic group a statistical dispersion of Trp values was shown indicating a bimodal data distribution suggesting the existence of two different subgroups of patients. Regarding 5-HTP, an increase of its serum level was observed in all the groups with amenorrhea with the highest value in hyperprolactinemic patients. On the contrary, no statistical differences in serum 5-HT levels among the four analyzed groups were observed. This study shows that women affected by various forms of amenorrhea present an altered metabolism of tryptophan via serotonin and, in particular, markedly high differences are observed between the two subgroups of anorexic patients.

Serum Levels of Tryptophan, 5-Hydroxytryptophan and Serotonin in Patients Affected with Different Forms of Amenorrhea

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S. Comai

2010-06-01

Full Text Available Tryptophan (Trp is present in the serum, partly bound to albumine and in the free form. The unbound portion of circulating tryptophan has the property of crossing the hematoencephalic barrier and being converted within the brain into serotonin (5-HT through the enzymatic processes of hydroxylation and decarboxylation. The serotoninergic system plays an important role in neuroendocrine control of reproductive hormone secretion, and in particular, it may influence GnRH pulsatility, a function essential for reproductive processes. In this study, we analysed serum levels of tryptophan, serotonin and 5-hydroxytryptophan (5-HTP in women with three different forms of amenorrhea: 16 patients were diagnosed with anorexia nervosa, 60 patients with functional hypothalamic amenorrhea, and 14 patients with hyperprolactinemia. Data were compared with those of a group of 25 healthy women. Serum Trp levels were significantly (P ≤ 0.05 lower in the anorexic (11.64 ± 0.53 µg/ml, mean ± S.E. than in the control (12.98 ± 0.37 µg/ml groups. In addition, in the anorexic group a statistical dispersion of Trp values was shown indicating a bimodal data distribution suggesting the existence of two different subgroups of patients. Regarding 5-HTP, an increase of its serum level was observed in all the groups with amenorrhea with the highest value in hyperprolactinemic patients. On the contrary, no statistical differences in serum 5-HT levels among the four analyzed groups were observed. This study shows that women affected by various forms of amenorrhea present an altered metabolism of tryptophan via serotonin and, in particular, markedly high differences are observed between the two subgroups of anorexic patients.

Severity of osteopenia in estrogen-deficient women with anorexia nervosa and hypothalamic amenorrhea.

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Grinspoon, S; Miller, K; Coyle, C; Krempin, J; Armstrong, C; Pitts, S; Herzog, D; Klibanski, A

1999-06-01

Reduced bone density is observed in over half of women with anorexia nervosa (AN), in whom the risk of fracture is significantly increased even at a young age. It is unknown to what extent low bone density in AN differs from other conditions of premenopausal osteoporosis and is related to estrogen deficiency and/or other factors, such as nutritional status. We therefore investigated bone loss in nutritionally replete and nutritionally deplete amenorrheic women by comparing patients with AN (n = 30) to age-matched subjects with hypothalamic amenorrhea (HA; n = 19) in whom duration of amenorrhea, prior estrogen use, and age of menarche were comparable. Healthy, age-matched, eumenorrheic women were studied as a control group (NL; n = 30). Weight and nutritionally dependent factors including (body mass index, 20.7 +/- 0.3 vs. 16.7 +/- 0.3 kg/m2; P < 0.0001), insulin-like growth factor I (270 +/- 18 vs. 203 +/- 17 ng/mL; P < 0.01), percent body fat (26% vs. 19%; P < 0.0001), and lean body mass (38.7 +/- 1.1 vs. 34.3 +/- 0.8, P < 0.01) were significantly different between the HA and AN groups, respectively. The bone densities of the anterior-posterior (AP) spine, total hip, and total body measured by dual energy x-ray absortiometry were reduced in both amenorrheic groups compared to those in control subjects, but were significantly lower in women with AN than in those with HA. The t scores for AP spine and hip were -1.80 +/- 0.15 (AN), -0.80 +/- 0.22 (HA), and 0.28 +/- 0.19 SD (NL) for the AP spine and -1.62 +/- 0.17 (AN), -0.51 +/- 0.21 (HA), and 0.25 +/- 0.16 (NL) for the total hip, respectively (P < 0.01 for all comparisons). Among the amenorrheic subjects, duration of amenorrhea, age of menarche, and N-telopeptide were inversely correlated with bone density at all sites, whereas body mass index, insulin-like growth factor I, lean body mass, and fat intake were positively correlated with bone density at all sites measured. In multivariate regression analyses, bone

Association of Thyroid Profile and Prolactin Level in Patient with Secondary Amenorrhea

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Shrestha, Sujata; Neupane, Sunita; Gautam, Narayan; Dubey, Raju Kumar; Jha, Amit Chandra; Doshi, Nilesh Raj; Jayan, Archana

2016-01-01

Background Amenorrhea is the absence of menstrual periods. It has multiple social consequences as it may leads to infertility. This case control study was conducted for determining the association of thyroid hormones with hyperprolactinemia in patient with amenorrhea. Methods We investigated 50 women with diagnosed cases of secondary amenorrhoea, who attended UCMS hospital, for hormonal evaluations. Fifty two healthy women were taken as the controls. The thyroid dysfunction and serum prolactin level were reviewed in cases and in the controls. Results Mean serum prolactin level was found to be significantly higher in the cases as compared to the controls. Mean serum fT3 and fT4 level in the hyperprolactinemic cases (mean = 2.67, SD = 1.04 pg/ml) and (mean = 1.38, SD = 0.51 ng/dl respectively) were slightly lower as compared to normoprolactinemic cases (mean = 3.21, SD = 1.86 pg/ml) and (mean = 1.73, SD = 1.37 ng/dl) respectively. Mean TSH of normoprolactinemic and hyperprolactinemic cases were comparable (P = 0.049). There was positive correlation between prolactin, BMI and TSH whereas negative correlation of prolactin was seen with fT3, fT4 and age. In hyperprolactainemic cases, prolactin was found to be negatively correlated with TSH (r = −0.155, P = 0.491) whereas prolactin was positively correlated with TSH (r = 0.296, P = 0.126) in normoprolactainemic cases. Conclusions Thus, hyperprolactinemia with thyroid dysfunction may be contributory hormonal factor in patient with amenorrhoea and as such, estimation of prolactin, fT3, fT4 and TSH should be included for diagnostic evaluation of amenorrhea. PMID:27904425

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

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Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

2016-01-01

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

Incidence of reversible amenorrhea in women with breast cancer undergoing adjuvant anthracycline-based chemotherapy with or without docetaxel

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Berliere, Martine; Dalenc, Florence; Malingret, Nathalie; Vindevogel, Anita; Piette, Philippe; Roche, Henry; Donnez, Jacques; Symann, Michel; Kerger, Joseph; Machiels, Jean-Pascal

2008-01-01

Background To determine the incidence of reversible amenorrhea in women with breast cancer undergoing adjuvant anthracycline-based chemotherapy with or without docetaxel. Methods We studied the incidence and duration of amenorrhea induced by two chemotherapy regimens: (i) 6 cycles of 5-fluorouracil 500 mg/m2, epirubicin 100 mg/m2 and cyclophosphamide 500 mg/m2 on day 1 every 3 weeks (6FEC) and (ii) 3 cycles of FEC 100 followed by 3 cycles of docetaxel 100 mg/m2 on day 1 every 3 weeks (3FEC/3D). Reversible amenorrhea was defined as recovery of regular menses and, where available (101 patients), premenopausal hormone values (luteinizing hormone (LH), follicle-stimulating hormone (FSH) and estradiol) in the year following the end of chemotherapy. Results One hundred and fifty-four premenopausal patients were included: 84 treated with 6FEC and 70 with 3FEC/3D. The median age was 43.5 years (range: 28–58) in the 6FEC arm and 44 years (range: 29–53) in the 3FEC/3D arm. Seventy-eight percent of patients were treated in the context of the PACS 01 trial. The incidence of chemotherapy-induced amenorrhea at the end of chemotherapy was similar in the two groups: 93 % in the 6FEC arm and 92.8 % in the 3FEC/3D arm. However, in the year following the end of chemotherapy, more patients recovered menses in the 3FEC/3D arm than in the 6FEC arm: 35.5 % versus 23.7 % (p = 0.019). Among the 101 patients for whom hormone values were available, 43 % in the 3FEC/3D arm and 29 % in the 6FEC arm showed premenopausal levels one year after the end of chemotherapy (p amenorrhea than 6FEC. The clinical relevance of these findings needs to be investigated further. PMID:18291033

Incidence of reversible amenorrhea in women with breast cancer undergoing adjuvant anthracycline-based chemotherapy with or without docetaxel

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Donnez Jacques

2008-02-01

Full Text Available Abstract Background To determine the incidence of reversible amenorrhea in women with breast cancer undergoing adjuvant anthracycline-based chemotherapy with or without docetaxel. Methods We studied the incidence and duration of amenorrhea induced by two chemotherapy regimens: (i 6 cycles of 5-fluorouracil 500 mg/m2, epirubicin 100 mg/m2 and cyclophosphamide 500 mg/m2 on day 1 every 3 weeks (6FEC and (ii 3 cycles of FEC 100 followed by 3 cycles of docetaxel 100 mg/m2 on day 1 every 3 weeks (3FEC/3D. Reversible amenorrhea was defined as recovery of regular menses and, where available (101 patients, premenopausal hormone values (luteinizing hormone (LH, follicle-stimulating hormone (FSH and estradiol in the year following the end of chemotherapy. Results One hundred and fifty-four premenopausal patients were included: 84 treated with 6FEC and 70 with 3FEC/3D. The median age was 43.5 years (range: 28–58 in the 6FEC arm and 44 years (range: 29–53 in the 3FEC/3D arm. Seventy-eight percent of patients were treated in the context of the PACS 01 trial. The incidence of chemotherapy-induced amenorrhea at the end of chemotherapy was similar in the two groups: 93 % in the 6FEC arm and 92.8 % in the 3FEC/3D arm. However, in the year following the end of chemotherapy, more patients recovered menses in the 3FEC/3D arm than in the 6FEC arm: 35.5 % versus 23.7 % (p = 0.019. Among the 101 patients for whom hormone values were available, 43 % in the 3FEC/3D arm and 29 % in the 6FEC arm showed premenopausal levels one year after the end of chemotherapy (p Conclusion Our study suggests that 3FEC/3D treatment induces more reversible amenorrhea than 6FEC. The clinical relevance of these findings needs to be investigated further.

Hypothalamic amenorrhea with normal body weight: ACTH, allopregnanolone and cortisol responses to corticotropin-releasing hormone test.

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Meczekalski, B; Tonetti, A; Monteleone, P; Bernardi, F; Luisi, S; Stomati, M; Luisi, M; Petraglia, F; Genazzani, A R

2000-03-01

Hypothalamic amenorrhea (HA) is a functional disorder caused by disturbances in gonadotropin-releasing hormone (GnRH) pulsatility. The mechanism by which stress alters GnRH release is not well known. Recently, the role of corticotropin-releasing hormone (CRH) and neurosteroids in the pathophysiology of HA has been considered. The aim of the present study was to explore further the role of the hypothalamic-pituitary-adrenal axis in HA. We included 8 patients (aged 23.16+/-1.72 years) suffering from hypothalamic stress-related amenorrhea with normal body weight and 8 age-matched healthy controls in the follicular phase of the menstrual cycle. We measured basal serum levels of FSH, LH, and estradiol and evaluated ACTH, allopregnanolone and cortisol responses to CRH test in both HA patients and healthy women. Serum basal levels of FSH, LH, and estradiol as well as basal levels of allopregnanolone were significantly lower in HA patients than in controls (P<0.001) while basal ACTH and cortisol levels were significantly higher in amenorrheic patients with respect to controls (P<0.001). The response (area under the curve) of ACTH, allopregnanolone and cortisol to CRH was significantly lower in amenorrheic women compared with controls (P<0.001, P<0.05, P<0.05 respectively). In conclusion, women with HA, despite the high ACTH and cortisol levels and, therefore, hypothalamus-pituitary-adrenal axis hyperactivity, are characterized by low allopregnanolone basal levels, deriving from an impairment of both adrenal and ovarian synthesis. The blunted ACTH, allopregnanolone and cortisol responses to CRH indicate that, in hypothalamic amenorrhea, there is a reduced sensitivity and expression of CRH receptor. These results open new perspectives on the role of neurosteroids in the pathogenesis of hypothalamic amenorrhea.

Serum anti-Müllerian hormone, inhibin B, and total inhibin levels in women with hypothalamic amenorrhea and anorexia nervosa.

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Luisi, Stefano; Ciani, Valentina; Podfigurna-Stopa, Agnieszka; Lazzeri, Lucia; De Pascalis, Flavio; Meczekalski, Blazej; Petraglia, Felice

2012-01-01

To evaluate whether neuroendocrine forms of secondary amenorrhea (hypothalamic nervosa (HA) and anorexia nervosa (AN)) affect serum anti-Müllerian hormone (AMH), inhibin B, and total inhibin levels. Amenorrheic women (n = 82) (aged between 16 and 35 years old) according to diagnosed with neuroendocrine forms of amenorrhea: HA (n = 64), AN (n = 18), and healthy women (n = 41) (control group) were enrolled. Serum AMH, inhibin B, and total inhibin levels were measured by specific ELISA. No statistically significant difference of AMH serum levels between women with HA, AN, and control group was observed. Serum inhibin B and total inhibin levels in women with HA (p < 0.0001), AN (p < 0.05) resulted significantly lower than in control healthy women. The present data showed that neuroendocrine forms of amenorrhea are associated with an impaired inhibin secretion while not AMH. These data indirectly support that AMH is an excellent marker of ovarian reserve and its secretion is not influenced by the hypothalamic-ovarian axis activity.

Diurnal Variation of Plasma Brain-Derived Neurotrophic Factor Levels in Women with Functional Hypothalamic Amenorrhea.

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Drakopoulos, Panagiotis; Casarosa, Elena; Bucci, Fiorella; Piccinino, Manuela; Wenger, Jean-Marie; Nappi, Rossella Elena; Polyzos, Nicholas; Genazzani, Andrea Riccardo; Pluchino, Nicola

2015-01-01

Brain-derived neurotrophic factor (BDNF) is strongly related to hormonal networks and is modulated by hypothalamic activity. To evaluate plasma BDNF concentration in patients with functional hypothalamic amenorrhea (FHA), with reference to the BDNF circadian rhythm and its relation with the cortisol (F) rhythm, and to assess whether the duration of amenorrhea might influence the BDNF:F ratio in FHA. This was an observational study evaluating 36 amenorrheic and 30 eumenorrheic women. Basal values of BDNF and hormones were examined in blood samples collected from 7:00 to 9:00 h in all the women. Basal BDNF and F levels were determined in blood samples collected in 12 subjects from each group at 8:00, 12:00, 16:00, 20:00, and 24:00 h. BDNF plasma levels are significantly lower in amenorrheic women (p 0.05), sex steroids, and F in FHA. Low plasma BDNF levels in FHA are not significantly correlated with duration of amenorrhea. The 24-hour variation of BDNF in amenorrheic women is significantly lower when compared to the control group, and normal daily variations of BDNF disappeared in FHA patients. F preserved its circadian rhythm in both groups. Interactions between BDNF, the hypothalamus-pituitary-adrenal axis, and sex steroids might be critical in clinical conditions of modified homeostasis/adaptation, such as FHA. © 2015 S. Karger AG, Basel.

Ultrasonic study of ovarian morphology in patients with hypergonadotropic amenorrhea relationship with serum FSH, LH, E2 levels

International Nuclear Information System (INIS)

Zhao Jinping; Xiang Hong; Zhou Chunmin

2004-01-01

Objective: To study the morphologic changes of ovary with transvaginal ultrasonography in patients with hypergonadotropic amenorrhea as well as the relationship between the type of ovary and serum FSH, LH, E 2 levels. Methods: Transvaginal ultrasonic examination of ovary was performed in 38 patients with hypergonadotropic amenorrhea and 36 controls, serum levels of FSH, LH, E 2 were simultaneously determined with RIA. Results: Morphologically, all the 38 pairs of ovaries in the patients were significantly smaller than those in the controls (as represented by the transverse diameter and antero-posterior diameter, P 2 levels in these two type of patients were not much different, but the mean ovarian size in the small follicular type was significantly larger than that in the non-follicular type (P<0.01). Conclusion: Transvaginal ultrasonography is very helpful for the differential diagnosis of the type of ovary in patients with hypergonadotropic amenorrhea, providing guidelines for therapy. The accuracy is even superior to that by laparoscopic biopsy. In this study, the serum FSH level is not diagnostic. (authors)

Impact of chemotherapy-induced amenorrhea in breast cancer patients: the evaluation of ovarian function by menstrual history and hormonal levels

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2013-01-01

Background Chemotherapy-induced amenorrhea (CIA) is one of the most frequent therapy-related adverse events observed in breast cancer patients who have undergone chemotherapy. Although the characteristics of CIA have been studied in Western countries, little is known about CIA in Asian. We conducted a retrospective analysis to assess the characteristics and influencing factors of CIA and its association with menopause in Chinese women who underwent adjuvant chemotherapy for early-stage breast cancer. Methods Seventy-three premenopausal women who underwent adjuvant chemotherapy for early stage (stages I to III) breast cancer were analyzed. Patient clinical characteristics, treatment regimes, menstrual information, and serum hormone values were collected retrospectively. Characteristic factors relevant to the onset of CIA and menopause were also estimated. Results Approximately 83.6% of patients developed CIA. Older patients (>40 years old) had higher CIA incidence compared with younger patients (P amenorrhea as determined by menstrual history and hormone levels (P = 0.0028). In women aged 46 to 49 years, the beginning of permanent amenorrhea was detected earlier via the clinical method than via the hormonal method (2 months versus 23 months, P amenorrhea was 19 months in the hormonal test and 2 months in the clinical test (P = 0.0112). Conclusions Age at diagnosis is a predictor of the onset of amenorrhea and transformation into menopause among premenopausal breast cancer patients. Adjuvant tamoxifen therapy substantially affects the onset of menopause. A delay of the onset of serum hormone postmenopausal status was observed compared with clinical symptoms. This interval was approximately 21 months in patients aged 46 to 49 years and 17 months in patients aged over 50 years. This interval is significant in the clinical estimate of the menstrual status. PMID:23688389

Treatment of functional hypothalamic amenorrhea with hypnotherapy.

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Tschugguel, Walter; Berga, Sarah L

2003-10-01

To determine the effects of hypnotherapy on resumption of menstruation in patients with functional hypothalamic amenorrhea (FHA). Uncontrolled clinical study. Academic clinical care center. Twelve consecutive women with FHA were selected. A single 45- to 70-minute session of hypnotherapy was administered, and patients were observed for 12 weeks. Patients were asked whether or not menstruation resumed and whether or not well-being and self-confidence changed. Within 12 weeks, 9 out of 12 patients (75%) resumed menstruation. All of the patients, including those who did not menstruate, reported several beneficial side effects such as increased general well-being and increased self-confidence. Hypnotherapy could be an efficacious and time-saving treatment option that also avoids the pitfalls of pharmacological modalities for women with FHA.

Complete Androgen Insensitivity Syndrome in Three Sisters

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Levent Verim

2014-01-01

Full Text Available Disorders of sexual development (DSD are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS, also known as testicular feminization (TF is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically female while having 46, XY karyotypes, CAIS diagnosis should be disclosed in an age-appropriate manner preferably by a mental health professional. Cases are reported here for three 46XY siblings consistent with CAIS.

Amenorrhea as a rare drug-related adverse event associated with everolimus for pancreatic neuroendocrine tumors.

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Kawaguchi, Yoshiaki; Maruno, Atsuko; Kawashima, Yohei; Ito, Hiroyuki; Ogawa, Masami; Mine, Tetsuya

2014-11-14

The patient was an asymptomatic 43-year-old woman. Abdominal ultrasonography and enhanced computed tomography showed a tumor lesion accompanied by multiple cystic changes in the liver and the pancreatic tail. Endoscopic ultrasound-fine needle aspiration was performed on the pancreatic tumor lesion and revealed pancreatic neuroendocrine tumor (PNET). As it was unresectable due to multiple liver metastases, the decision was made to initiate treatment with everolimus and transcatheter arterial chemoembolization. The patient ceased menstruating after the start of everolimus administration. When the administration was discontinued due to interstitial lung disease, menstruation resumed, but then again stopped with everolimus resumption. An association between everolimus and amenorrhea was highly suspected. Amenorrhea occurred as a rare adverse event of everolimus. As the younger women might be included in PNETs patients, we should put this adverse event into consideration.

Resumption of menstruation and pituitary response to gonadotropin-releasing hormone in functional hypothalamic amenorrhea subjects undertaking estrogen replacement therapy.

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Shen, Z Q; Xu, J J; Lin, J F

2013-11-01

Functional hypothalamic amenorrhea (FHA) refers to a functional menstrual disorder with various causes and presentations. Recovery of menstrual cyclicity is common in long-term follow-up but the affecting factors remain unknown. To explore factors affecting the menstrual resumption and to evaluate the pituitary response to gonadotropin-releasing hormone (GnRH) in FHA. Thirty cases with FHA were recruited. All subjects were put on continuous 1 mg/day estradiol valerate orally and followed up monthly. Recovery was defined as the occurrence of at least three consecutive regular cycles. Responder referred to those who recovered within two years of therapy. Gonadotropin response to the 50 μg GnRH challenge was tested every three months. Nineteen (63.3%) subjects recovered with a mean time to recovery of 26.8 months. Time to recovery was negatively correlated with body mass index (BMI) before and by amenorrhea. Twentyone cases had undertaken therapy for more than two years and 10 of them recovered. BMI before and by amenorrhea were negatively correlated with the recovery. Significant increase of serum luteinizing hormone (LH) and LH response to GnRH were noted after recovery. Menstrual resumption was common in FHA undertaking estrogen replacement therapy (ERT). The likelihood of recovery was affected by their BMI before and by amenorrhea but not by the weight gain during therapy. Low serum LH and attenuated LH response to GnRH were the main features of pituitary deficiency in FHA. The menstrual resumption in FHA was accompanied by the recovery of serum LH and the LH response to GnRH.

Report of a case of Turner′s syndrome with localized aggressive periodontitis

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Suresh Kumar Kasagani

2011-01-01

Full Text Available Turner′s syndrome is a disorder in females characterized by the absence of all or part of a normal second sex chromosome. It is typically characterized by the combination of physical features and cytogenetics in females. Physical features include short stature, primary amenorrhea, hypogonadism, low hair line at the back of the neck, and digital anomalies. Most affected patients have a 45XO monosomy, but the presence of an abnormal chromosome or mosaicism of 45X with another cell line can also fulfill the criteria. Features seen in the oral cavity of patients diagnosed with Turner′s syndrome include high palatal vault, hypoplastic mandible, prematurely erupting teeth, and orthodontic anomalies. A case of Turner′s syndrome with localized aggressive periodontitis has been reported here.

Increased adrenal steroid secretion in response to CRF in women with hypothalamic amenorrhea.

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Genazzani, A D; Bersi, C; Luisi, S; Fruzzetti, F; Malavasi, B; Luisi, M; Petraglia, F; Genazzani, A R

2001-09-01

To evaluate adrenal steroid hormone secretion in response to corticotropin-releasing factor (CRF) or to adrenocorticotropin hormone in women with hypothalamic amenorrhea. Controlled clinical study. Department of Reproductive Medicine and Child Development, Section of Gynecology and Obstetrics, University of Pisa, Italy. Fifteen women with hypothalamic amenorrhea were enrolled in the study. Eight normal cycling women were used as control group. Blood samples were collected before and after an injection of ovine CRF (0.1 microg/kg iv bolus) or after synthetic ACTH (0.25 mg iv). Plasma levels of ACTH, 17-hydroxypregnenolone (17OHPe), progesterone (P), dehydroepiandrosterone (DHEA), 17-hydroxyprogesterone (17OHP), cortisol (F), 11-deoxycortisol (S) and androstenedione (A). Basal plasma concentrations of ACTH, cortisol, 11-deoxycortisol, DHEA and 17OHPe were significantly higher in patients than in controls, whereas plasma levels of progesterone and 17-OHP were significantly lower in patients than in controls. In amenorrheic women the ratio of 17-OHPe/DHEA, of 17-OHPe/17-OHP and of 11-deoxycortisol/cortisol were significantly higher than in controls, while a significant reduction in the ratio of 17-OHP/androstenedione, of 17-OHP/11-deoxycortisol was obtained. In response to corticotropin-releasing factor test, plasma levels of ACTH, cortisol, 17-OHP, 11-deoxycortisol, DHEA and androstenedione were significantly lower in patients than in controls. In response to adrenocorticotropin hormone, plasma levels of 17-OHP, androstenedione and androstenedione/cortisol were significantly higher in patients than in controls. Patients suffering for hypothalamic amenorrhea showed an increased activation of hypothalamus-pituitary-adrenal (HPA) axis, as shown by the higher basal levels and by augmented adrenal hormone response to corticotropin-releasing factor administration. These data suggest a possible derangement of adrenal androgen enzymatic pathway.

Hypothalamic amenorrhea. The effects of environmental stresses on the reproductive system: a central effect of the central nervous system.

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Warren, M P; Fried, J L

2001-09-01

Although the treatment of anovulation has become significantly more specialized and complex in the centuries since Hippocrates, a complete understanding of the causes and mechanisms of hypothalamic amenorrhea has not been achieved. Even the best research on hypothalamic amenorrhea is plagued by the lack of longitudinal studies, the use of different exercise models, the difficulty of controlling for caloric intake, and the fact that genetics may have a role in the disorder. Continuing research on metabolic rate, leptin, and other factors will ultimately answer many of the outstanding questions and will help to create better tools for treating this disorder.

Antipsychotic-induced Hyperprolactinemia

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Suheyla Dogan Bulut

2015-06-01

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

A female patient with amenorrhea as complication of radiotherapy for Hodgkin's disease

International Nuclear Information System (INIS)

Kock, H.C.L.V.

1983-01-01

A 25 year old woman was treated for Hodgkins disease with some surgery and radiotherapy directed to para-aortal, para-illiacal and inguinal lymph nodes. Half a year after remission she presented with secondary amenorrhea which was diagnosed as complication of the radiotherapy. She also became sterile. Genetic radiation effects are discussed and an improvement in the method of treatment to avoid sterility is proposed

Disordered eating, amenorrhea, and substance use and misuse among professional ballet dancers: Preliminary analysis

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Mia Peric

2016-04-01

Full Text Available Background: Substance use and misuse (SUM, eating disorders (ED and consequent amenorrhea (AM occur frequently in professional ballet dancing. The objective of this study has been to explore the prevalence and association between ED, AM and SUM in ballet. Material and Methods: The sample comprised 21 ballet dancers, 23.1±4.5 years old, members of the professional National Ballet Ensemble from Croatia. Variables were collected by questionnaires examining SUM, occurrence of amenorrhea, and corresponding ballet-specific and socio-demographic factors (Questionnaire on Substance Use – QSU and the level of ED (Brief Eating Disorder in Athletes Questionnaire – BEDA-Q. Results: Smoking is prevalent in 40% of dancers (25% smoke on a daily basis, 36% often use analgesics, and 25% engage in binge drinking at least once a month. Smoking and binge drinking are less frequent in ballerinas with a higher academic level (r = 0.60 and r = 0.54 for binge drinking and smoking, respectively; p < 0.05. Alcohol drinking is higher among dancers who consume analgesics more often and those with a higher BEDA-Q score (r = 0.53 and r = 0.54 for analgesics and BEDA-Q, respectively; p < 0.05. Amenorrhea is more prevalent among those dancers with a higher BEDA-Q score. Women who consume nutritional supplements are less likely to use analgesics (Mann Whitney U test = 2.11; p < 0.05. Conclusions: Efforts seeking to prevent ED in ballet should target dancers who consume alcohol to a greater extent. Future studies should specifically explore the less frequent consumption of analgesics among dancers who consume nutritional supplements. Med Pr 2016;67(1:21–27

Ultrasonography and MRI features of the Mayer–Rokitansky–Küster–Hauser syndrome

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Rousset, P.; Raudrant, D.; Peyron, N.; Buy, J.-N.; Valette, P.-J.; Hoeffel, C.

2013-01-01

Although Mayer–Rokitansky–Küster–Hauser syndrome is a rare condition with a reported incidence of 1/4500 female live births, it represents the second most common cause of primary amenorrhea and has psychologically devastating consequences. The radiologist plays a pivotal role in both making the accurate initial diagnosis of this condition and assessing findings that may contribute to treatment planning. The purpose of this article is to provide an overview of the capabilities of ultrasound and magnetic resonance imaging (MRI) for the diagnosis and management of this syndrome with emphasis on the relevant clinical and surgical findings and to describe potential associated abnormalities and differential diagnosis

Hyperandrogenism in female athletes with functional hypothalamic amenorrhea: a distinct phenotype

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Javed, Asma; Kashyap, Rahul; Lteif, Aida N

2015-01-01

Asma Javed,1 Rahul Kashyap,2 Aida N Lteif1 1Pediatric and Adolescent Medicine, Division of Pediatric Endocrinology Mayo Clinic, Rochester, MN, USA; 2Department of Anesthesia and Critical Care Medicine, Mayo Clinic, Rochester, MN, USA Objective: To compare the reproductive, metabolic, and skeletal profiles of young athletic women with functional hypothalamic amenorrhea (FHA) as well as clinical or biochemical hyperandrogenism (FHA-EX+HA) with body mass index matched women with FHA due to exe...

Intra-Abdominal Testicular Seminoma in a Woman with Testicular Feminization Syndrome

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Darshana D. Rasalkar

2011-01-01

Full Text Available We report a case of intra-abdominal testicular tumor in a 36-year-old married lady presenting with chief complaints of primary amenorrhea. The patient was later diagnosed with testicular feminization syndrome, a form of male pseudohermaphroditism. This testicular tumor was histologically proven as seminoma. Due to rarity, imaging findings in patients with testicular feminization syndrome and intraabdominal testicular tumor have been poorly documented. So far, only one case report had described the combined role of CT and MR imaging in intraabdominal testicular sex-cord stromal tumor. To our knowledge, this case is first to document USG and MR imaging in addition to MR spectroscopy features in intraabdominal testicular seminoma.

Discrepancies between genital responses and subjective sexual function during testosterone substitution in women with hypothalamic amenorrhea

NARCIS (Netherlands)

Tuiten, A.; Laan, E.; Panhuysen, G.; Everaerd, W.; de Haan, E.; Koppeschaar, H.; Vroon, P.

1996-01-01

Psychosexual dysfunction is often suggested the cause of the disturbed eating habits associated with hypothalamic secondary amenorrhea. In contrast, we explored the possibility that impaired sexual function may result from reduced levels of testosterone in amenorrheic subjects as a consequence of

Diagnostic evaluation of serum FSH and LH in primary amenorrhea by radioimmunoassay

International Nuclear Information System (INIS)

Hong, I.S.; Kim, G.E.; Yoo, H.S.; Lee, J.T.; Park, C.Y.

1980-01-01

The usefulness of single, random measurements of serum FSH and LH in the diagnosis of primary amenorrhea by radioimmunoassay was investigated. The 16 patients were divided into 3 groups by the level of serum FSH and LH. The first group with increased level of serum FSH and LH is five patients, all of these are related to the acquired or congenital abnormality of the ovary. Further studies indicated include buccal smear, chromosome analysis, gynecography and laparoscopy. The second group with normal serum FSH and LH is nine patients, four patients of these are related to the developmental anomaly of the Mullerian duct and five patients are undetermined origin. Further studies indicated include laparoscopy and gynecography. The third group with decreased serum FSH and normal or decreased serum LH is two patients, one of these is related to the pituitary function, isolated FSH deficiency, the other is undetermined origin. Further studies indicated include the pituitary function test, LH-RH stimulation test, skull radiography. Determination of serum FSH and LH levels does not permit a specific etiologic diagnosis of promary amenorrhea. However the serum levels of FSH and LH can be used to differentiate the principal area of the investigation and can be of assistance in choosing more specific testing procedures. (Author)

Transsphenoidal surgery for pituitary gigantism and galactorrhea in a 3.5 year old child.

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Flitsch, J; Lüdecke, D K; Stahnke, N; Wiebel, J; Saeger, W

2000-05-01

The management of pituitary macroadenomas which lead to gigantism may require multiple therapeutical approaches, including medical treatment, surgery, and radiation therapy. Transsphenoidal surgery (TSS) during early childhood that achieves total removal of a growth hormone (GH) secreting tumor is rarely reported. The surgeon is confronted with special problems regarding the infantile anatomy. In this case, a 3.5 year old child, the youngest successfully treated by TSS so far, suffered from a GH- and prolactin (PRL) secreting macroadenoma of the pituitary gland. The girl initially presented with an increasing growth rate, later with breast development, and finally, at the age of 2.8 years, with galactorrhea and secretion of blood from the nipples. Increased levels of GH [122 micrograms/l], insulin-like growth factor (IGF-1) [830 micrograms/l], insulin-like growth factor binding protein 3 (IGFBP-3) [8.6 mg/l] and PRL [590 micrograms/l] were found. MRI scans revealed a macroadenoma of 2.7 cm diameter. An eight-week trial of relatively low dose dopamine agonists led to a reduction of PRL, while the GH- and IGF-1 levels remained unchanged; the tumor showed only little shrinkage. Since there was chiasma compression, we opted for early TSS. A complete tumor removal was achieved despite the difficulties of a narrow approach. After TSS, low levels of GH, IGF-1, and PRL documented a complete tumor removal, but persistent diabetes insipidus and anterior lobe deficits resulted from surgery. In summary, if primary medical therapy alone is unable to adequately reduce hormone hypersecretion and tumor size in early childhood, TSS is recommended. Thus, radiation therapy may be reserved for surgical failure.

[Marfan syndrome and pregnancy. Apropos of 4 cases].

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Lambaudie, E; Depret-Mosser, S; Occelli, B; Papageorgiou, T; Dognin, A; Bertrand, M; de Martinville, B; Codaccioni, X; Monnier, J C

2002-01-01

To create a follow-up protocol for pregnant patients with Marfan syndrome. We retrospectively reviewed the charts of patients who delivered in the Jeanne de Flandre University Hospital between June 1996 and June 1999. Four pregnant patients with Marfan syndrome were identified. Three of these patients had Bentall procedure. One of them had vaginal delivery and the two others underwent cesarean section. One of these two patients developed aortic valve thrombus at 14 weeks of amenorrhea. The fourth patient did not have surgery and had two vaginal deliveries. According to our results and after reviewing literature pregnant patients with Marfan syndrome were divided into two groups. The 1st group was comprised of patients who underwent Bentall procedure. The 2nd one was comprised of patients who did not undergo any surgical procedure. The possibility of vaginal delivery for patients who underwent Bentall procedure (one case) and the interest of Propanolol and anticoagulant treatment are emphasized. The multivariant approach of pregnant patients with Marfan syndrome is stressed out with special reference to the potential complications of this syndrome such as aortic dissection and to the problems related to the anticoagulant treatment.

A rare case of Turner′s syndrome presenting with Mullerian agenesis

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Suresh Vaddadi

2013-01-01

Full Text Available Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner′s syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina.

Female patient with amenorrhea as complication of radiotherapy for Hodgkin's disease

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Kock, H.C.L.V. (St. Elisabeth en Mariaziekenhuis, Tilburg (Netherlands). Afdeling Gynaecologie en Obstetrie)

1983-07-02

A 25 year old woman was treated for Hodgkins disease with some surgery and radiotherapy directed to para-aortal, para-illiacal and inguinal lymph nodes. Half a year after remission she presented with secondary amenorrhea which was diagnosed as complication of the radiotherapy. She also became sterile. Genetic radiation effects are discussed and an improvement in the method of treatment to avoid sterility is proposed.

Functional hypothalamic amenorrhea: hypoleptinemia and disordered eating.

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Warren, M P; Voussoughian, F; Geer, E B; Hyle, E P; Adberg, C L; Ramos, R H

1999-03-01

Because the exact etiology of functional, or idiopathic, hypothalamic amenorrhea (FHA) is still unknown, FHA remains a diagnosis of exclusion. The disorder may be stress induced. However, mounting evidence points to a metabolic/nutritional insult that may be the primary causal factor. We explored the thyroid, hormonal, dietary, behavior, and leptin changes that occur in FHA, as they provide a clue to the etiology of this disorder. Fourteen cycling control and amenorrheic nonathletic subjects were matched for age, weight, and height. The amenorrheic subjects denied eating disorders; only after further, detailed questioning did we uncover a higher incidence of anorexia and bulimia in this group. The amenorrheic subjects demonstrated scores of abnormal eating twice those found in normal subjects (P < 0.05), particularly bulimic type behavior (P < 0.01). They also expended more calories in aerobic activity per day and had higher fiber intakes (P < 0.05); lower body fat percentage (P < 0.05); and reduced levels of free T4 (P < 0.05), free T3 (P < 0.05), and total T4 (P < 0.05), without a significant change in rT3 or TSH. Cortisol averaged higher in the amenorrheics, but not significantly, whereas leptin values were significantly lower (P < 0.05). Bone mineral density was significantly lower in the wrist (P < 0.05), with a trend to lower BMD in the spine (P < 0.08). Scores of emotional distress and depression did not differ between groups. The alterations in eating patterns, leptin levels, and thyroid function present in subjects with FHA suggest altered nutritional status and the suppression of the hypothalamic-pituitary-thyroid axis or the alteration of feedback set-points in women with FHA. Both lower leptin and thyroid levels parallel changes seen with caloric restriction. Nutritional issues, particularly dysfunctional eating patterns and changes in thyroid metabolism, and/or leptin effects may also have a role in the metabolic signals suppressing GnRH secretion and

Use of cognitive behavior therapy for functional hypothalamic amenorrhea.

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Berga, Sarah L; Loucks, Tammy L

2006-12-01

Behaviors that chronically activate the hypothalamic-pituitary-adrenal (HPA) axis and/or suppress the hypothalamic-pituitary-thyroidal (HPT) axis disrupt the hypothalamic-pituitary-gonadal axis in women and men. Individuals with functional hypothalamic hypogonadism typically engage in a combination of behaviors that concomitantly heighten psychogenic stress and increase energy demand. Although it is not widely recognized clinically, functional forms of hypothalamic hypogonadism are more than an isolated disruption of gonadotropin-releasing hormone (GnRH) drive and reproductive compromise. Indeed, women with functional hypothalamic amenorrhea display a constellation of neuroendocrine aberrations that reflect allostatic adjustments to chronic stress. Given these considerations, we have suggested that complete neuroendocrine recovery would involve more than reproductive recovery. Hormone replacement strategies have limited benefit because they do not ameliorate allostatic endocrine adjustments, particularly the activation of the adrenal and the suppression of the thyroidal axes. Indeed, the rationale for the use of sex steroid replacement is based on the erroneous assumption that functional forms of hypothalamic hypogonadism represent only or primarily an alteration in the hypothalamic-pituitary-gonadal axis. Potential health consequences of functional hypothalamic amenorrhea, often termed stress-induced anovulation, may include an increased risk of cardiovascular disease, osteoporosis, depression, other psychiatric conditions, and dementia. Although fertility can be restored with exogenous administration of gonadotropins or pulsatile GnRH, fertility management alone will not permit recovery of the adrenal and thyroidal axes. Initiating pregnancy with exogenous means without reversing the hormonal milieu induced by chronic stress may increase the likelihood of poor obstetrical, fetal, or neonatal outcomes. In contrast, behavioral and psychological interventions that

Radioimmunoassay of human homologous prolactin in serum with commercially available reagents. [/sup 125/I tracer technique

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Kao, P.C.; Jiang, N.S.; Abboud, C.F.

1977-09-01

A clinically useful and reproducible radioimmunoassay for human homologous prolactin, established with commercially available reagents, was studied and validated. We present detailed conditions for iodination and purification of labeled prolactin and the optimal conditions for the assay. By the method, we found values (..mu..g/liter) as follows for serum prolactin: normal men, 8.9 +- 5.2 (mean +- SD); normal women, 11.8 +- 5.5; normal women taking contraceptive pills, 9.2 +- 5.0; pregnant women in the third trimester, 188 +- 69.5; patients with various diseases other than of the hypothalamic-pituitary axis, 9.3 +- 6.3; in some patients with amenorrhea and galactorrhea of diverse origin, 78.2 +- 87.4; and in some patients with surgically proven pituitary tumor, 1414 +- 1980. Results under provocative testing are also presented for a patient with normal hypothalamic-pituitary function.

Hyperprolactinemia with Antipsychotic Drugs in Children and Adolescents

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Arlan L. Rosenbloom

2010-01-01

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.

Radioimmunoassay of human homologous prolactin in serum with commercially available reagents

International Nuclear Information System (INIS)

Kao, P.C.; Jiang, N.S.; Abboud, C.F.

1977-01-01

A clinically useful and reproducible radioimmunoassay for human homologous prolactin, established with commercially available reagents, was studied and validated. We present detailed conditions for iodination and purification of labeled prolactin and the optimal conditions for the assay. By the method, we found values (μg/liter) as follows for serum prolactin: normal men, 8.9 +- 5.2 (mean +- SD); normal women, 11.8 +- 5.5; normal women taking contraceptive pills, 9.2 +- 5.0; pregnant women in the third trimester, 188 +- 69.5; patients with various diseases other than of the hypothalamic-pituitary axis, 9.3 +- 6.3; in some patients with amenorrhea and galactorrhea of diverse origin, 78.2 +- 87.4; and in some patients with surgically proven pituitary tumor, 1414 +- 1980. Results under provocative testing are also presented for a patient with normal hypothalamic-pituitary function

Embolization of angiographically visible type I and II utero-ovarian anastomoses during uterine artery embolization for fibroid tumors: impact on symptom recurrence and permanent amenorrhea.

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Salazar, Gloria M M; Gregory Walker, T; Conway, Raymond F; Yeddula, Kalpana; Wicky, Stephan; Waltman, Arthur C; Kalva, Sanjeeva P

2013-09-01

To compare the incidences of symptom recurrence and permanent amenorrhea following uterine artery embolization (UAE) for symptomatic fibroid tumors in patients with type I and II utero-ovarian anastomoses (UOAs) with versus without ovarian artery embolization (OAE). A retrospective, institutional review board-approved study of 99 women who underwent UAE for symptomatic fibroid tumors from April 2005 to October 2010 was conducted to identify patients who had type I or II UOAs at the time of UAE. Based on the embolization technique, patients were categorized into standard (ie, UAE only), combined (ie, UAE and OAE), and control (patients without UOAs who underwent UAE) groups. Data collected included patient characteristics, procedural technique and findings, symptom recurrence, secondary interventions, and permanent amenorrhea. Statistical analysis was performed with the Fisher exact test, with significance reached at P amenorrhea after procedures (follow-up, 561 d ± 490). There was a significantly higher incidence of symptom recurrence in the standard group compared with the control group (P = .01), with no differences between combined and control groups (P = 1). There were no statistical differences in permanent amenorrhea rates in the groups studied, with significantly higher symptom recurrence rates observed when OAE was not performed in the setting of UOA. Copyright © 2013 SIR. Published by Elsevier Inc. All rights reserved.

Gonadotropin-releasing hormone radioimmunoassay and its measurement in normal human plasma, secondary amenorrhea, and postmenopausal syndrome

International Nuclear Information System (INIS)

Rosenblum, N.G.; Schlaff, S.

1976-01-01

A sensitive and specific double antibody radioimmunoassay for gonadotropin-releasing hormone (GnRH) has been developed for measurement in ethanol extracts of human plasma. Iodinated hormone was prepared with the use of the chloramine-T method, and antibodies were developed in rabbits over a six-month period with a GnRH synthetic copolymer immunogen. A Scatchard plot revealed at least three species of antibody. The assay can measure conservatively at the 5 pg. per milliliter level and shows no cross-reactivity with other available hypothalamic and pituitary hormones. The releasing hormone was quantitatively recovered from human plasma with immunologic identity to native hormone. Unextracted plasma could not be used because of nonspecific displacement. The measurement of GnRH in individuals receiving 100 μg of intravenous bolus infusions of the synthetic decapeptide show extremely elevated values with two half-lives: one of two to four minutes and another of 35 to 40 minutes. In our experiments, we have found measurable GnRH in patients with secondary amenorrhea and at the midcycle in normal women. In the normal cycling woman during the follicular and luteal phases, GnRH was undetectable. In postmenopausal women with extreme hypoestrogenism and markedly elevated luteinizing hormone values, GnRH was also undetectable. No bursts of GnRH could be detected in normal men when sampled every ten minutes over a two-hour period and every two hours throughout the day

Polycystic Ovarian Syndrome: A Diagnostic and Therapeutic Challenge

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Manmohan K Kamboj

2010-01-01

Full Text Available Polycystic ovarian syndrome (PCOS is the commonest endocrinopathy in women with a multi-factorial etiology, and presents not just a diagnostic dilemma but also a therapeutic challenge as well. The clinical features of the syndrome in adolescents result from hyperandrogenemia and oligo/anovulation. Most women presenting with non-pregnancy related secondary amenorrhea, oligomenorrhoea, acne, hirsutism, and infertility have PCOS. Consensus diagnostic criteria have been developed by the United States National Institutes of Health (NIH, and the European Society of Human Reproduction and Embryology and American Society of Reproduction (Rotterdam criteria. PCOS needs to be suspected, recognized, and treated to prevent some long term complications. Treatment modalities need to be individualized to address the specific concerns of each female presenting with this entity. This article reviews the diagnosis and principles of management of PCOS.

Polycystic ovary syndrome: update on diagnosis and treatment.

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Setji, Tracy L; Brown, Ann J

2014-10-01

Polycystic ovary syndrome is now a well-recognized condition affecting 6%-25% of reproductive-aged women, depending on the definition. Over the past 3 decades, research has launched it from relative medical obscurity to a condition increasingly recognized as common in internal medicine practices. It affects multiple systems, and requires a comprehensive perspective on health care for effective treatment. Metabolic derangements and associated complications include insulin resistance and diabetes, hyperlipidemia, hypertension, fatty liver, metabolic syndrome, and sleep apnea. Reproductive complications include oligo-/amenorrhea, sub-fertility, endometrial hyperplasia, and cancer. Associated psychosocial concerns include depression and disordered eating. Additionally, cosmetic issues include hirsutism, androgenic alopecia, and acne. This review organizes this multi-system approach around the mnemonic "MY PCOS" and discusses evaluation and treatment options for the reproductive, cosmetic, and metabolic complications of this condition. Copyright © 2014 Elsevier Inc. All rights reserved.

Feature of amenorrhea in postoperative tamoxifen users with breast cancer.

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Kim, Hoon; Han, Wonshik; Ku, Seung Yup; Suh, Chang Suk; Kim, Seok Hyun; Choi, Young Min

2017-03-01

Tamoxifen has been used to prevent the recurrence of breast cancer. However, tamoxifen-users frequently experience amenorrhea and it can be confused from that caused by other hormonal abnormalities. In amenorrheic patients without breast cancer, clinicians usually measure the sex hormone levels that are known to be associated with ovarian or menstrual function. This study aimed to investigate the feature of female sex hormones in premenopausal breast cancer patients undergoing tamoxifen treatment. The medical records of fifty-nine premenopausal breast cancer patients who underwent tamoxifen treatment were reviewed retrospectively. The study population consisted of amenorrheic patients (n=36) and patients with menstruation (n=23). Serum hormone levels were measured either specifically between cycle days 2 and 5 in menstruating patients or at any time in amenorrheic participants. Serum levels of lutenizing hormone and estradiol were not statistically different according to the presence of menstruation. Serum follicle stimulating hormone level was significantly higher in amenorrheic patients (8.1±5.7 mIU/mL) than those in menstruating subjects (5.1±2.2 mIU/mL) (p=0.01). Serum concentration of thyroid stimulating hormone was lower in patients with amenorrhea (1.5±0.9 vs. 2.3±2.2 μIU/mL, p=0.04), although the prevalence of hypo- or hyperthyroidism was not different according to the pattern of menstruation. Menstruation status and hormone levels can be influenced by tamoxifen use in reproductive age breast cancer patients. Physicians should be attentive to the alteration of pituitary hormone levels in addition to sex steroid hormones in this population. Copyright © 2017. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology

Disordered eating, amenorrhea, and substance use and misuse among professional ballet dancers: Preliminary analysis.

Science.gov (United States)

Peric, Mia; Zenic, Natasa; Sekulic, Damir; Kondric, Miran; Zaletel, Petra

2016-01-01

Substance use and misuse (SUM), eating disorders (ED) and consequent amenorrhea (AM) occur frequently in professional ballet dancing. The objective of this study has been to explore the prevalence and association between ED, AM and SUM in ballet. The sample comprised 21 ballet dancers, 23.1±4.5 years old, members of the professional National Ballet Ensemble from Croatia. Variables were collected by questionnaires examining SUM, occurrence of amenorrhea, and corresponding ballet-specific and socio-demographic factors (Questionnaire on Substance Use - QSU) and the level of ED (Brief Eating Disorder in Athletes Questionnaire - BEDA-Q). Smoking is prevalent in 40% of dancers (25% smoke on a daily basis), 36% often use analgesics, and 25% engage in binge drinking at least once a month. Smoking and binge drinking are less frequent in ballerinas with a higher academic level (r = 0.60 and r = 0.54 for binge drinking and smoking, respectively; p ballet should target dancers who consume alcohol to a greater extent. Future studies should specifically explore the less frequent consumption of analgesics among dancers who consume nutritional supplements. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

Treatment-related amenorrhea and sexual functioning in young breast cancer survivors.

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Rosenberg, Shoshana M; Tamimi, Rulla M; Gelber, Shari; Ruddy, Kathryn J; Bober, Sharon L; Kereakoglow, Sandra; Borges, Virginia F; Come, Steven E; Schapira, Lidia; Partridge, Ann H

2014-08-01

Sexual dysfunction is a known complication of adjuvant therapy for breast cancer and an important determinant of quality of life. However, few studies have explored how treatment and other factors affect sexual functioning in young breast cancer survivors. Four hundred sixty-one premenopausal women with stage 0 through III breast cancer were surveyed an average of 1 year after diagnosis as part of a prospective cohort study of women who were aged ≤40 years at diagnosis. Sexual interest and dysfunction were assessed using the Cancer Rehabilitation Evaluation System (CARES). Mean CARES scores were compared and multiple regression models were fit to assess treatment and a range of menopausal and somatic symptoms in relation to sexual functioning. Mean CARES sexual interest and dysfunction scores were both highest (indicating poorer functioning) among women who received chemotherapy and were amenorrheic from treatment. After accounting for menopausal and somatic symptoms, treatment-associated amenorrhea remained associated with decreased interest but was no longer an independent predictor of dysfunction. In the multivariable analysis, independent predictors of dysfunction included vaginal pain symptoms, poorer body image, and fatigue. Sexual interest was associated with vaginal pain symptoms, body image, and weight problems. Factors associated with decreased sexual functioning in young breast cancer survivors can often be ameliorated. The current findings have implications for premenopausal women with other types of cancer who might be experiencing amenorrhea because of chemotherapy or surgery. Increased awareness and early intervention is essential to help improve sexual functioning and associated quality of life for all young cancer survivors. © 2014 American Cancer Society.

A case of dyskeratosis congenita with primary amenorrhea and adenocarcinoma of stomach

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Nandini Chakrabarti

2011-01-01

Full Text Available Dyskeratosis congenita (DC is a rare disease characterized by hyperpigmentation, nail dystrophy and mucous membrane abnormality. Commonly occurring in males, the patients die young usually due to bone marrow suppression. Malignancies of various descriptions have been reported in this disease, the commonest being solid tumors of head/neck (squamous cell carcinoma. We report the case of a female patient with DC, who presented to us with severe wasting and primary amenorrhea and died of carcinoma stomach in our hospital 3 weeks later.

Study the Prevalence of Polycystic Ovarian Syndrome in Women with Type 2 Diabetes Referring to Kerman Diabetes Clinic

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Fatemeh Mirzaie

2008-03-01

Full Text Available Introduction & Objective: Polycystic ovary syndrome (PCOS is a heterogeneous disorder that affects 5-10% of women of reproductive age patients with this syndrome one of the high risk groups for type 2 diabetes mellitus in future. This study was carried out to determine the prevalence of PCOS in patients with type 2 diabetes mellitus. Materials & Methods: One hundred women under 45 years with type 2 diabetes treating with diet or hypoglycemic drugs, referred to Kerman diabetic center in 2005 were identified. Women with galactorrhea or history of thyroid dysfunction were excluded from the study. Data were collected through interview and then data of 92 women were analyzed using t-test and x2. Results: Ninety two women enrolled in the study and 18 cases (19.5% had clinical symptoms of PCOS. The mean of age was 38 years (38.76±5.92 years. The mean age of women with PCOS was 34.89±3.96 and that of normal women was 39.7±5.96 years (P0.05. Conclusion: This study indicated women with type 2 diabetes mellitus had a higher prevalence of polycystic syndrome. Android obesity is associated with the increased risk of type 2 diabetes in women with PCOS.

Study the Prevalence of Polycystic Ovarian Syndrome in Women with Type 2 Diabetes Referring to Kerman Diabetes Clinic

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F. Mirzaie

Full Text Available Introduction & Objective: Polycystic ovary syndrome (PCOS is a heterogeneous disorder that affects 5-10% of women of reproductive age patients with this syndrome one of the high risk groups for type 2 diabetes mellitus in future. This study was carried out to determine the prevalence of PCOS in patients with type 2 diabetes mellitus. Materials & Methods: One hundred women under 45 years with type 2 diabetes treating with diet or hypoglycemic drugs, referred to Kerman diabetic center in 2005 were identified. Women with galactorrhea or history of thyroid dysfunction were excluded from the study. Data were collected through interview and then data of 92 women were analyzed using t-test and x2. Results: Ninety two women enrolled in the study and 18 cases (19.5% had clinical symptoms of PCOS. The mean of age was 38 years (38.76±5.92 years. The mean age of women with PCOS was 34 and that of normal women was 39 years (P0.05. Conclusion: This study indicated women with type 2 diabetes mellitus had a higher prevalence of polycystic syndrome. Android obesity is associated with the increased risk of type 2 diabetes in women with PCOS.

Successful pregnancy following low-dose hCG administration in addition to hMG in a patient with hypothalamic amenorrhea due to weight loss.

Science.gov (United States)

Tsutsumi, Ryo; Fujimoto, Akihisa; Osuga, Yutaka; Harada, Miyuki; Takemura, Yuri; Koizumi, Minako; Yano, Tetsu; Taketani, Yuji

2012-06-01

We describe successful ovulation induction with low-dose hCG administration in addition to hMG in a patient with refractory hypothalamic amenorrhea. A 24-year-old woman with weight loss-related amenorrhea underwent ovulation induction and intracytoplasmic sperm injection (ICSI). Administration of exogenous gonadotropins was ineffective in ovulation induction. Supplementation with low-dose hCG in order to increase luteinizing hormone (LH) activity in the late follicular phase produced late folliculogenesis and steroidogenesis, and ovulation was then successfully induced. This report reacknowledges the critical role that LH plays cooperatively with follicle-stimulating hormone in both folliculogenesis and steroidogenesis.

Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

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Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

2012-04-01

To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma.

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DU, Xue; Zhang, Xuhong; Li, Yongmei; Han, Yukun

2014-10-01

Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow-up showed no tumor recurrence and a regular menstrual cycle in this patient.

Etiology and management of primary amenorrhoea: A study of 102 cases at tertiary centre.

Science.gov (United States)

Kriplani, Alka; Goyal, Manu; Kachhawa, Garima; Mahey, Reeta; Kulshrestha, Vidushi

2017-12-01

To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype. The three most common causes of primary amenorrhea were Mullerian anomalies (47%), gonadal dysgenesis (20.5%), and hypogonadotropic hypogonadism (14.7%) in the present study. There were 3 cases of Turner syndrome (45,XO), 5 cases of Swyer's syndrome (46,XY) and 2 cases of Androgen insensitivity syndrome (46,XY). One case had pituitary macroadenoma and eight cases (7.8%) were of genital tuberculosis. The present study has currently been the largest case series of primary amenorrhea from North India. Mullerian anomaly is the most prevalent etiological factor leading to amenorrhoea followed by gonadal dysgenesis in our study. Racial, genetic and environmental factors could play role in the cause of primary amenorrhea. Copyright © 2017. Published by Elsevier B.V.

Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report.

Science.gov (United States)

Huang, He; Tian, Qinjie

2016-11-01

Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD. The patient has normal female reproductive organs and a disrupted pubertal development after the treatment for acute myeloid leukemia (AML). We consider that her gonads were probably functional and later impaired after AML. The clinical manifestations were not consistent with DSD. With doubts, we found that she received bone marrow transplantation (BMT) from her brother and adjuvant chemotherapy 6 years ago. Her karyotype changed from normal female to a karyotype of donor (her brother) origin after BMT.Adjuvant chemotherapy for AML may impair her ovarian function and finally bring about disrupted puberty or primary ovarian insufficiency (POI). We provided close follow-up. During the second visit, the patient had her menarche lasting 4 days without any medication. The present case serves as a reminder that a correct diagnosis depends on the comprehensive collection of present and past medical history, complete physical examination, and careful evaluation of related adjuvant tests. Do not presumptively judge a test and mislead reasoning. In addition, ovarian function protection should be considered for young girls having chemotherapy.

Hypercortisolemia Is Associated with Severity of Bone Loss and Depression in Hypothalamic Amenorrhea and Anorexia Nervosa

OpenAIRE

Lawson, Elizabeth A.; Donoho, Daniel; Miller, Karen K.; Misra, Madhusmita; Meenaghan, Erinne; Lydecker, Janet; Wexler, Tamara; Herzog, David B.; Klibanski, Anne

2009-01-01

Context: Anorexia nervosa (AN) and functional hypothalamic amenorrhea (HA) are associated with low bone density, anxiety, and depression. Women with AN and HA have elevated cortisol levels. Significant hypercortisolemia, as in Cushing’s disease, causes bone loss. It is unknown whether anxiety and depression and/or cortisol dysregulation contribute to low bone density in AN or HA.

Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults

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Marco Nezzo

2013-01-01

Full Text Available Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdominal, labial, or inguinal testes. The estimated prevalence is between 1 and 5 in 100,000 genetic males. Complete androgen insensitivity syndrome can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth, can be detected by chance, or remain undetected until investigations for primary amenorrhea. Imaging can be important both to diagnose the pathology and to localize gonads prior to surgical treatment. In this paper, we present three cases of complete androgen insensitivity syndrome in adult women of 34, 22, and 38 years old.

Transnasal stereotactic surgery of pituitary adenomas concomitant with acromegaly.

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Metyolkina, L; Peresedov, V

1995-01-01

Since 1960 we have performed stereotactic transsphenoidal cryohypophysectomy in 70 patients with pituitary adenomas, 42 women and 28 men, aged 11-59 years. The dominant clinical syndrome was acromegaly in 50 patients, galactorrhea in 9, amenorrhea in 5, adiposogenital dystrophy in 4 and gigantism with mild endocrine symptomatology in 2 patients. In 67 patients the histological structure of the tumor was established by biopsy (50 patients with eosinophil adenoma, 10 with mixed-type adenoma, 4 with chromophobe adenoma and 3 with basophil adenoma). Somatotropic hormone, human growth hormone, prolactin, ACTH and 17-ketosteroid levels indicated active/inactive adenomas. In 42 cases the adenoma was only intrasellar, which was confirmed by contrast X-ray investigations, CT scanning, angiography and ophthalmological investigation. Transnasal stereotactic cryohypophysectomy was performed in all 70 cases using a stereotactic apparatus especially designed for operations on the pituitary. All patients (except 2) tolerated the operation well. No complications occurred. Vision deteriorated after operation in 1 patient. Thrombosis of the left middle cerebral artery developed in another patient. All the other patients noted improvement directly after operation - rapid diminution of signs of acromegaly and rapid restoration of normal values in hormonal tests. Six patients with continuing growth of the tumor underwent a second operation 1.5-6 years after the first operation. We conclude from our own clinical experience and information from the literature that transnasal stereotactic cryodestruction is highly effective and relatively safe in the management of pituitary adenoma.

[Mayer-Rokitansky-Küster-Hauser syndrome: two cases report].

Science.gov (United States)

Ávila-Vergara, Marco Antonio; León-Álvarez, Damián Alfredo; López-Villegas, Miriam Nayeli; Quintero-Medrano, Samantha Melissa; Angulo-Bueno, Gladys Fabiola; Vadillo-Ortega, Felipe

2015-03-01

Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

Amenorréia e osteoporose em adolescentes atletas Amenorrhea and osteosporosis in adolescents athletes

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Graziela MANTOANELLI

2002-09-01

Full Text Available A participação feminina no esporte foi crescendo ao longo dos anos. Trabalhos científicos têm mostrado os benefícios trazidos por esta prática para a saúde da mulher, mas quando se trata de esporte competitivo podem surgir problemas. A complicação mais comum descrita pela literatura é a "tríade da atleta", a qual envolve três processos: o distúrbio alimentar, a amenorréia e a osteoporose. A amenorréia atinge, nos Estados Unidos, até 66% das atletas de competição, e algumas de suas possíveis causas são: perda de peso, excesso de treino, quantidade insuficiente de gordura corporal, perda de estoques específicos de gordura corporal e dieta inadequada. Como conseqüência da amenorréia, a esportista pode desenvolver osteoporose precoce. Não se sabe ao certo a porcentagem de atletas com osteopenia, mas há indícios de que a falta de estrógeno, a dieta inadequada e o consumo insuficiente de cálcio serem fatores que as predispõem a desenvolver a doença.The female participation in sports has been increasing over the years. Scientific studies have shown the benefits this practice brings to women's health, but, when it comes to competitive sports, problems may arise. The most common complication described by the literature is the "Female Athlete Triad", which involves three processes: the eating disorder, the amenorrhea, and the osteoporosis. In the United States, the amenorrhea afflicts up to 66% of the competition athletes, and some of its possible causes of are: weight loss, excessive training, insufficient quantity of body fat, loss of specific stores of body fat, and inadequate diet. As a consequence of the amenorrhea, the sportswoman may develop precocious osteoporosis. It is not known for sure the percentage of athletes with osteopenia, but there are indications that the lack of estrogen, the inadequate diet, and the insufficient consumption of calcium are factors predisposing them to develop the disease.

Concomitant occurrence of macroprolactin, exercise-induced amenorrhea, and a pituitary lesion: a diagnostic pitfall. Case report.

Science.gov (United States)

Cattaneo, F A; Fahie-Wilson, M N

2001-08-01

The authors report the case of a 37-year-old woman who presented with amenorrhea and an increased level of serum prolactin. Magnetic resonance images of the pituitary revealed a lesion with characteristics consistent with those of a microadenoma. Transsphenoidal exploration was performed, but a prolactinoma was not found. After endocrinological review, the patient's hyperprolactinemia was found to be caused by the presence of macroprolactin and her amenorrhea was due to intense exercise and low body weight. Macroprolactin is an isoform of prolactin that is variably reactive in assays for prolactin, but displays minimum bioactivity in vivo. Patients with macroprolactin are mostly asymptomatic. This phenomenon may cause elevated prolactin values, which the authors view as apparent hyperprolactinemia. The presence of macroprolactin is an underrecognized problem, occurring in as many as 15 to 20% of patients with elevated prolactin values and often leading to unnecessary, expensive diagnostic procedures and inappropriate treatment. The presence of macroprolactin should always be suspected when the patient's clinical history or clinical or radiological data are incompatible with the prolactin value. Physicians dealing with diagnosis and treatment of hyperprolactinemia (general practitioners, gynecologists, neurosurgeons, endocrinologists, and biochemists) should be aware of the potentially misleading nature of macroprolactin.

[Atypical antipsychotics and sexual dysfunction: five case-reports associated with risperidone].

Science.gov (United States)

Haefliger, T; Bonsack, C

2006-01-01

Sexual and reproductive function side effects of atypical antipsychotics are frequent, often underestimated and badly tolerated. They contribute to the 50% rate of non-compliance reported for treated patients. Prevalence of sexual dysfunction associated with atypical antipsychotic treatment is high, varying from 18 to 96%. Atypical antipsychotics aren't, as a group, much better than typical antipsychotics, and among them, risperidone seems to induce more and quetiapine less sexual dysfunction. Most atypicals are non-selective, and have actions on multiple central and peripheral receptors. Among these, dopaminergic blockade could have a direct - altering motivation (desire) and reward (orgasm) - and an indirect negative influence on sexuality. Actually, the secondary hyperprolactinemia induced by some antipsychotics (typical antipsychotics, risperidone and amisulpiride), is dose-dependent, more pronounced for female patients, and may have a detrimental effect on sexual function. It also may result in hypogonadism, particularly for female patients. The long-term consequences of this secondary hypogonadism are subject to debate but potentially severe. Furthermore, the blocking and/or modulating actions of atypical antipsychotics on adrenaline, serotonine, histamine or acetyl-choline receptors all have the potential to contribute to secondary sexual problems. The pharmacological profile of risperidone, characterized by a strong affinity for D2 and alpha1 receptors, correlates with his tendency to significantly elevate prolactin levels and to produce ejaculatory disturbances. FIVE CASE-REPORTS: We describe five case-reports of sexual or hormonal disturbances associated with risperidone treatment: two cases of ejaculatory disturbance, one case of galactorrhea and two cases of amenorrhea. Alberto and David are two young male schizophrenic patients, treated with risperidone, and complaining of a total absence of ejaculation despite a preserved orgasm. Many recent case

Longitudinal changes in reproductive hormones and menstrual cyclicity in cynomolgus monkeys during strenuous exercise training: abrupt transition to exercise-induced amenorrhea.

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Williams, N I; Caston-Balderrama, A L; Helmreich, D L; Parfitt, D B; Nosbisch, C; Cameron, J L

2001-06-01

Cross-sectional studies of exercise-induced reproductive dysfunction have documented a high proportion of menstrual cycle disturbances in women involved in strenuous exercise training. However, longitudinal studies have been needed to examine individual susceptibility to exercise-induced reproductive dysfunction and to elucidate the progression of changes in reproductive function that occur with strenuous exercise training. Using the female cynomolgus monkey (Macaca fascicularis), we documented changes in menstrual cyclicity and patterns of LH, FSH, estradiol, and progesterone secretion as the animals developed exercise-induced amenorrhea. As monkeys gradually increased running to 12.3 +/- 0.9 km/day, body weight did not change significantly although food intake remained constant. The time spent training until amenorrhea developed varied widely among animals (7-24 months; mean = 14.3 +/- 2.2 months) and was not correlated with initial body weight, training distance, or food intake. Consistent changes in function of the reproductive axis occurred abruptly, one to two menstrual cycles before the development of amenorrhea. These included significant declines in plasma reproductive hormone concentrations, an increase in follicular phase length, and a decrease in luteal phase progesterone secretion. These data document a high level of interindividual variability in the development of exercise-induced reproductive dysfunction, delineate the progression of changes in reproductive hormone secretion that occur with exercise training, and illustrate an abrupt transition from normal cyclicity to an amenorrheic state in exercising individuals, that is not necessarily associated with weight loss.

Ovarian Sertoli-Leydig Cell Tumor with Elevated Inhibin B as a Cause of Secondary Amenorrhea in an Adolescent with Germ Line DICER1 Mutation.

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Luke, Amy M; Moroney, John W; Snitchler, Andrea; Whiteway, Susan L

2017-10-01

Ovarian tumors, although uncommon in children, can retain endocrine function that disrupts normal feedback mechanisms leading to amenorrhea. Inheritance of germline DICER1 mutations can lead to increased risk for development of ovarian Sertoli-Leydig cell tumors (SLCTs). We report, to our knowledge, the first case of secondary amenorrhea due to elevated inhibin B levels in a female adolescent with an ovarian SLCT. Ovarian tumors should be included in the differential diagnosis for pediatric patients who present with menstrual irregularities. Early evaluation of the hypothalamic-pituitary-ovarian axis and inhibin levels is appropriate. Our case also emphasizes the need for testing for DICER1 mutations in pediatric patients with ovarian SLCTs. Published by Elsevier Inc.

Turner Syndrome and Its Variants

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Semra Gürsoy

2017-12-01

Full Text Available Turner syndrome (TS is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.

Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

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Nicholas T. Gamboa, B.S.

2017-12-01

Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.

Hormone Use for Therapeutic Amenorrhea and Contraception During Hematopoietic Cell Transplantation

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Chang, Katherine; Merideth, Melissa A.; Stratton, Pamela

2015-01-01

There is a growing population of women who have or will undergo hematopoietic stem cell transplant for a variety of malignant and benign conditions. Gynecologists play an important role in addressing the gynecologic and reproductive health concerns for these women throughout the transplant process. As women undergo cell transplantation, they should avoid becoming pregnant and are at risk of uterine bleeding. Thus, counseling about and implementing hormonal treatments such as gonadotropin-releasing hormone agonists, combined hormonal contraceptives, and progestin-only methods help to achieve therapeutic amenorrhea and can serve as contraception during the peritransplant period. In this commentary, we summarize the timing, risks and benefits of the hormonal options just prior, during and for the year after hematopoietic stem cell transplantation. PMID:26348182

Ovulation induction with pulsatile gonadotropin-releasing hormone (GnRH) or gonadotropins in a case of hypothalamic amenorrhea and diabetes insipidus.

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Georgopoulos, N A; Markou, K B; Pappas, A P; Protonatariou, A; Vagenakis, G A; Sykiotis, G P; Dimopoulos, P A; Tzingounis, V A

2001-12-01

Hypothalamic amenorrhea is a treatable cause of infertility. Our patient was presented with secondary amenorrhea and diabetes insipidus. Cortisol and prolactin responded normally to a combined insulin tolerance test (ITT) and thyrotropin-releasing hormone (TRH) challenge, while thyroid-stimulating hormone (TSH) response to TRH was diminished, and no response of growth hormone to ITT was detected. Both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels increased following gonadotropin-releasing hormone (GnRH) challenge. No response of LH to clomiphene citrate challenge was detected. Magnetic resonance imaging findings demonstrated a midline mass occupying the inferior hypothalamus, with posterior lobe not visible and thickened pituitary stalk. Ovulation induction was carried out first with combined human menopausal gonadotropins (hMG/LH/FSH) (150 IU/day) and afterwards with pulsatile GnRH (150 ng/kg/pulse). Ovulation was achieved with both pulsatile GnRH and combine gonadotropin therapy. Slightly better results were achieved with the pulsatile GnRH treatment.

Pulsatile luteinizing hormone patterns in the follicular phase of the menstrual cycle, polycystic ovarian disease (PCOD) and non-PCOD secondary amenorrhea.

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Burger, C W; Korsen, T; van Kessel, H; van Dop, P A; Caron, F J; Schoemaker, J

1985-12-01

To characterize the oscillations of plasma LH in normally cycling and amenorrheic women, three groups of women were studied: I, normal women during the follicular phase of the cycle (n = 9); II, women with polycystic ovarian disease (PCOD; n = 11); and III, women with non-PCOD secondary amenorrhea (n = 12). Blood samples were obtained at 10-min intervals for 6 h on 2 separate days. A pulse was defined as an increase in LH at least 20% over the preceding lowest value (nadir). Since LHRH release immediately follows the nadir of the LH levels, the nadir interval (NI) was used for analysis. For analysis, the results from 1 day were selected at random from each subject, and from each day, the same number of NIs also were randomly selected. When two NIs from each patient were selected, the median NI was 75 min in group I, 45 min in group II, and 45 min in group III. When three or four NIs were chosen, the median NI was 60 min in group I, 50 min in group II, and 40 min in group III. The differences between the groups were statistically significant. When three NIs were selected, the mean of the corresponding LH amplitudes was 2.8 U/liter in group I, 6.0 U/liter in group II, and 1.5 U/liter in group III. The differences between these groups were statistically significant. Thus, the NI in PCOD patients was shorter than that during the follicular phase of the cycle, but this short NI is not unique for PCOD, since the NI in non-PCOD secondary amenorrhea patients was even smaller. The LH amplitude was higher in PCOD and lower in non-PCOD secondary amenorrhea compared to that during the follicular phase of the cycle. The decrease in NI in PCOD and/or non-PCOD secondary amenorrhea vs. the NI of the follicular phase could be explained by either a higher frequency of LHRH pulses from the hypothalamus or an increased sensitivity of the pituitary leading to a greater response of the pituitary to LHRH pulses.

Case of pituitary stalk transection syndrome ascertained after breech delivery.

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Fukuta, Kaori; Hidaka, Takao; Ono, Yosuke; Kochi, Keiko; Yasoshima, Kuniaki; Arai, Takashi

2016-02-01

Pituitary stalk transection syndrome (PSTS) is a rare complication that can accompany breech delivery. Early diagnosis of this syndrome is difficult, and it may cause a serious delay in the diagnosis. We present a case of PSTS ascertained after breech delivery. A 20-year-old woman presented with primary amenorrhea. The patient was born by breech delivery and had a history of treatment for pituitary dwarfism. Her laboratory findings showed pituitary hypothyroidism, and hormone replacement therapy was initiated. At 28 years old, she became pregnant and had a normal delivery at 38 weeks' gestation. One year after delivery, her thyroid hormone level changed. Laboratory test showed adrenocortical insufficiency, and magnetic resonance imaging of the pituitary gland showed transection of the pituitary stalk and development of an ectopic posterior lobe. These findings were compatible with PSTS. When a patient who has been born by breech delivery presents with symptoms of pituitary deficiency, PSTS should be considered in the differential diagnosis. © 2015 Japan Society of Obstetrics and Gynecology.

Effects of Oral Contraceptives on Natriuretic Peptide Levels in Women with Hypothalamic Amenorrhea: A Pilot Study

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Lin, Eleanor; Grinspoon, Steven; Wang, Thomas; Miller, Karen K.

2011-01-01

Natriuretic peptides, which are important regulators of salt handling and blood pressure, are 60 – 75% higher in healthy young women than in men, consistent with a gender dimorphism. In this randomized, placebo-controlled study in women with functional hypothalamic amenorrhea, we show that administration of oral contraceptives increases natriuretic peptide levels and that end-of-study free testosterone levels are inversely associated with NT-proBNP levels, consistent with the hypothesis that ...

Complete androgen insensitivity syndrome with paratesticular leiomyoma: A case report

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Lee, Ji Hoon; Oh, Hyung Woo; Lee, Mi Ja; Lim, Dong Hoon [Chosun University College of Medicine, Gwangju (Korea, Republic of)

2017-03-15

Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea.

Complete androgen insensitivity syndrome with paratesticular leiomyoma: A case report

International Nuclear Information System (INIS)

Lee, Ji Hoon; Oh, Hyung Woo; Lee, Mi Ja; Lim, Dong Hoon

2017-01-01

Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea

Diagnosis and Treatment of Polycystic Ovary Syndrome in Pediatric Gynaecology

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М.Yu. Serhiienko

2015-03-01

Full Text Available Diagnosis of polycystic ovary syndrome (PCOS in adolescence still raises many questions. The problem is that the characteristics of normal puberty often coincide with PCOS symptoms, so a number of researchers suggest to apply more stringent requirements to diagnosing. We use a cautious approach to a final diagnosis of PCOS because of its interpretation as a global problem of somatic health — endocrine and metabolic status, cardiovascular and oncogenic risk. In addition, one of the main therapies for PCOS is application of combined oral contraceptives, which are undesirable to use in adolescent girls with oligo- and amenorrhea without careful examination and use of all the abilities of vitamine therapy, phytotherapy and gestagens.

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

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Vineet V Mishra

2015-01-01

Full Text Available We present a patient with nonclassic congenital adrenal hyperplasia (NCAH misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP. The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

Exercise and chemotherapy-induced amenorrhea.

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Mathis, Katlynn M; Sturgeon, Kathleen M; Winkels, Renate M; Wiskemann, Joachim; Williams, Nancy I; Schmitz, Kathryn

2018-07-01

Chemotherapy-induced amenorrhea (CIA) is the temporary or permanent loss of menses experienced by premenopausal women undergoing chemotherapy treatment for cancer. Two possible mechanisms through which chemotherapy induces CIA have been identified: systemic endothelial dysfunction, resulting in decreased blood flow to the ovaries, and increased oxidative stress within the ovaries, both of which are proposed to lead to apoptosis of follicles. Endothelial dysfunction in ovarian arteries in women undergoing or who have undergone chemotherapy treatment is characterized by prothrombotic changes and thickening of the vascular wall. These changes result in occlusion of the blood vessels. Oxidative stress is increased and antioxidants decreased in the ovaries secondary to chemotherapy drugs, specifically cyclophosphamide. It is hypothesized that low to moderate intensity aerobic exercise during chemotherapy may prevent these changes and lessen the risk for developing CIA in premenopausal women. Low to moderate intensity aerobic exercise has been shown to improve endothelial function and blood flow in patients with cardiovascular disease-a disease state characterized by endothelial dysfunction and for which patients who have undergone chemotherapy are at increased risk. In mice, moderate intensity aerobic exercise has been shown to decrease the amount of oxidative stress within the ovaries, and in humans, chronic aerobic exercise has been shown to increase antioxidant production systemically. This hypothesis should be tested in both a mouse model, using sedentary and exercising mice treated with chemotherapy drugs that commonly result in CIA, as well as a human model to determine the effects of low to moderate intensity aerobic exercise on ovarian function in premenopausal women undergoing chemotherapy. Copyright © 2018 Elsevier Ltd. All rights reserved.

Laparoscopic Removal of Streak Gonads in Turner Syndrome.

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Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus

To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

Radiotherapy for pituitary adenomas: long-term outcome and complications

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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)

2011-09-15

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

Radiotherapy for pituitary adenomas: long-term outcome and complications

International Nuclear Information System (INIS)

Rim, Chai Hong; Yang, Dae Sik; Park, Young Je; Yoon, Won Sup; Lee, Jung AE; Kim, Chul Yong

2011-01-01

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's disease

Recovery of ovarian activity in women with functional hypothalamic amenorrhea who were treated with cognitive behavior therapy.

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Berga, Sarah L; Marcus, Marsha D; Loucks, Tammy L; Hlastala, Stefanie; Ringham, Rebecca; Krohn, Marijane A

2003-10-01

To determine whether cognitive behavior therapy (CBT) targeted to problematic attitudes common among women with functional hypothalamic amenorrhea would restore ovarian function. Randomized, prospective, controlled intervention. Clinical research center in an academic medical institution. Sixteen women participated who had functional hypothalamic amenorrhea; were of normal body weight; and did not report psychiatric conditions, eating disorders, or excessive exercise. Subjects were randomized to CBT or observation for 20 weeks. Serum levels of E(2) and P and vaginal bleeding were monitored. Of eight women treated with CBT, six resumed ovulating, one had partial recovery of ovarian function without evidence of ovulation, and one did not display return of ovarian function. Of those randomized to observation, one resumed ovulating, one had partial return of ovarian function, and six did not recover. Thus, CBT resulted in a higher rate of ovarian activity (87.5%) than did observation (25.0%), chi(2) = 7.14. A cognitive behavioral intervention designed to minimize problematic attitudes linked to hypothalamic allostasis was more likely to result in resumption of ovarian activity than observation. The prompt ovarian response to CBT suggests that a tailored behavioral intervention offers an efficacious treatment option that also avoids the pitfalls of pharmacological modalities.

Decreased plasma concentrations of brain-derived neurotrophic factor (BDNF) in patients with functional hypothalamic amenorrhea.

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Podfigurna-Stopa, Agnieszka; Casarosa, Elena; Luisi, Michele; Czyzyk, Adam; Meczekalski, Blazej; Genazzani, Andrea Riccardo

2013-09-01

Functional hypothalamic amenorrhea (FHA) is a non organic, secondary amenorrhea related to gonadotropin-releasing hormone pulsatile secretion impairment. Brain-derived neurotrophic factor (BDNF), a member of the neurotrophin family of survival-promoting molecules, plays an important role in the growth, development, maintenance and function of several neuronal systems. The aim of the study was the evaluation of plasma BDNF concentrations in patients with the diagnosis of FHA. We studied 85 subjects diagnosed with FHA who were compared with 10 healthy, eumenorrheic controls with normal body mass index. Plasma BDNF and serum luteinizing hormone, follicle-stimulating hormone and estradiol (E2) concentrations were measured by immunoenzymatic method (enzyme-linked immunosorbent assay). Significantly lower concentration of plasma BDNF was found in FHA patients (196.31 ± 35.26 pg/ml) in comparison to healthy controls (407.20 ± 25.71 pg/ml; p < 0.0001). In the control group, there was a strong positive correlation between plasma BDNF and serum E2 concentrations (r = 0.92, p = 0.0001) but in FHA group it was not found. Role of BDNF in FHA is not yet fully understood. There could be found studies concerning plasma BDNF concentrations in humans and animals in the literature. However, our study is one of the first projects which describes decreased plasma BDNF concentration in patients with diagnosed FHA. Therefore, further studies on BDNF in FHA should clarify the role of this peptide.

Leptin is an effective treatment for hypothalamic amenorrhea.

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Chou, Sharon H; Chamberland, John P; Liu, Xiaowen; Matarese, Giuseppe; Gao, Chuanyun; Stefanakis, Rianna; Brinkoetter, Mary T; Gong, Huizhi; Arampatzi, Kalliopi; Mantzoros, Christos S

2011-04-19

Hypothalamic amenorrhea (HA) is associated with dysfunction of the hypothalamic-pituitary-peripheral endocrine axes, leading to infertility and bone loss, and usually is caused by chronic energy deficiency secondary to strenuous exercise and/or decreased food intake. Energy deficiency also leads to hypoleptinemia, which has been proposed, on the basis of observational studies as well as an open-label study, to mediate the neuroendocrine abnormalities associated with this condition. To prove definitively a causal role of leptin in the pathogenesis of HA, we performed a randomized, double-blinded, placebo-controlled trial of human recombinant leptin (metreleptin) in replacement doses over 36 wk in women with HA. We assessed its effects on reproductive outcomes, neuroendocrine function, and bone metabolism. Leptin replacement resulted in recovery of menstruation and corrected the abnormalities in the gonadal, thyroid, growth hormone, and adrenal axes. We also demonstrated changes in markers of bone metabolism suggestive of bone formation, but no changes in bone mineral density were detected over the short duration of this study. If these data are confirmed, metreleptin administration in replacement doses to normalize circulating leptin levels may prove to be a safe and effective therapy for women with HA.

Administration of L-thyroxine does not improve the response of the hypothalamo-pituitary-ovarian axis to clomiphene citrate in functional hypothalamic amenorrhea.

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De Leo, V; la Marca, A; Lanzetta, D; Morgante, G

2000-05-01

To investigate the hypothalamo-pituitary-ovarian axis in women with functional hypothalamic amenorrhea to determine whether the combination of L-thyroxine and clomiphene citrate produces a qualitative and quantitative increase in induced ovulatory cycles. Gynecological Endocrinology Research Center, University of Siena (Italy). 16 young women with functional hypothalamic amenorrhea and 15 women with normal cycles in early follicular phase. Administration of 50 microgram GnRH and 200 microgram TRH. The women with functional hypothalamic amenorrhea were divided into groups A (n=8) and B (n=8). Both groups were given 100 mg/day clomiphene for 5 days/month for 3 months. Women in group A were also given 75 mcg/day thyroid hormone (L-thyroxine) for 3 months. Comparison of basal and stimulated levels of gonadotropins, TSH and Prl, in groups A and B. Qualitative and quantitative comparison of ovulatory cycles induced in the groups. Administration of clomiphene and clomiphene plus L-thyroxine was evaluated in the second and third months of treatment and was followed by a total of 11 ovulatory cycles, six in group A and five in group B. No significant difference was found between groups. Mean progesterone concentrations measured 16 days after the last clomiphene tablet were 5.5+/-1.2 ng/ml in group A and 5.1+/-1.3 ngl/ml in group B. Administration of L-thyroxine with clomiphene does not improve the response of the hypothalamo-pituitary-ovarian axis to clomiphene citrate or the number of ovulatory cycles and does not reduce luteal phase defects.

Intrapartum diagnostic of Roberts syndrome - case presentation.

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Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

2015-01-01

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

Bilateral Gonadal Cysts and Late Diagnosis of Androgen Insensitivity Syndrome Treated by Laparoscopic Gonadectomy

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D. Tourlakis

2011-01-01

Full Text Available Background. Complete androgen insensitivity syndrome is a rare syndrome in which the uterus is absent and testes rather than ovaries are present. Patients usually visit a gynecologist due to primary amenorrhea. Case. A forty-eight-year-old woman with lower abdominal pain and anamnesis of uterus agenesis was operated on due to bilateral cystic masses. A 5 × 3 × 1.2 cm left adnexal cyst revealed the presence of a serous cyst with a hypoplastic ductus deferens. A smaller cyst of the right adnexa revealed immature testis tissue with Leydig-cell hyperplasia. After karyotype and hormonal examinations, laparoscopic gonadectomy was performed. Conclusion. Attention should be paid in all cyst-removing operations in cases of uterus agenesis, due to the high incidence of malignancy. Not of less importance is the issue of informing the patient in the most appropriate way.

Polycystic Ovary-Like Abnormalities (PCO-L) in women with functional hypothalamic amenorrhea.

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Robin, G; Gallo, C; Catteau-Jonard, S; Lefebvre-Maunoury, C; Pigny, P; Duhamel, A; Dewailly, D

2012-11-01

In the general population, about 30% of asymptomatic women have polycystic ovary-like abnormalities (PCO-L), i.e. polycystic ovarian morphology (PCOM) at ultrasound and/or increased anti-Müllerian hormone (AMH) serum level. PCOM has also been reported in 30-50% of women with functional hypothalamic amenorrhea (FHA). The aim of this study was to verify whether both PCOM and excessive AMH level indicate PCO-L in FHA and to elucidate its significance. We conducted a retrospective analysis using a database and comparison with a control population. Subjects received ambulatory care in an academic hospital. Fifty-eight patients with FHA were compared to 217 control women with nonendocrine infertility and body mass index of less than 25 kg/m(2). There were no interventions. We measured serum testosterone, androstenedione, FSH, LH, AMH, and ovarian area values. The antral follicle count (AFC) was used as a binary variable (i.e. negative or positive) because of the evolution of its sensitivity over the time of this study. The ability of these variables (except AFC) to detect PCO-L in both populations was tested by cluster analysis. One cluster (cluster 2) suggesting PCO-L was detected in the control population (n = 52; 24%), whereas two such clusters were observed in the FHA population (n = 22 and n = 6; 38 and 10%; clusters 2 and 3, respectively). Cluster 2 in FHA had similar features of PCO-L as cluster 2 in controls, with higher prevalence of positive AFC (70%) and PCOM (70%), higher values of ovarian area and higher serum AMH (P < 0.0001 for all), and testosterone levels (P < 0.01) than in cluster 1. Cluster 3 in FHA was peculiar, with frankly elevated AMH levels. In the whole population (controls + FHA), PCO-L was significantly associated with lower FSH values (P < 0.0001). PCO-L in FHA is a frequent and usually incidental finding of unclear significance, as in controls. The association of PCO-L with hypothalamic amenorrhea should not lead to a mistaken diagnosis of

Treatments to Prevent Bone Loss in Functional Hypothalamic Amenorrhea: A Systematic Review and Meta-Analysis.

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Altayar, Osama; Al Nofal, Alaa; Carranza Leon, B Gisella; Prokop, Larry J; Wang, Zhen; Murad, M Hassan

2017-05-01

We conducted a systematic review and meta-analysis of studies that evaluated the effect of hormonal therapy [estrogen therapy including oral contraceptive pills (OCP)] and bisphosphonates in preventing bone loss in patients with functional hypothalamic amenorrhea (FHA). We searched several electronic databases for controlled and noncontrolled studies that enrolled females of any age presenting with FHA (including athletic, weight loss, and stress-associated amenorrhea/oligomenorrhea) through 9 January 2017. The outcomes of interest were fractures and bone mineral density (BMD). Random effects meta-analysis was used to pool outcomes across studies expressed as weighted mean difference and 95% confidence interval (CI). Nine studies reporting on 280 patients that received different hormonal therapies were included. We did not identify studies that evaluated bisphosphonates. Meta-analysis demonstrated a statistically significant increase in BMD of the lumbar spine in patients receiving hormonal therapy after a median follow-up of 12 months (weighted mean difference, 0.032 g/cm 2 ; 95% CI, 0.017 to 0.047; percentage change in BMD, 3.30%; 95% CI, 1.74 to 4.86). There was no substantial effect of receiving hormonal therapy on BMD of the femoral neck, trochanteric region, Ward triangle, or total body BMD. The quality of evidence was low because of the high risk of bias, imprecision (small sample size), and indirectness (as BMD is a surrogate outcome). None of the studies reported the incidence of fractures. The current evidence does not support using hormonal therapy for the sole purpose of improving bone health in patients with FHA. There are no data about bisphosphonates in this population.

Heart rate variability in adolescents with functional hypothalamic amenorrhea and anorexia nervosa.

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Bomba, Monica; Corbetta, Fabiola; Gambera, Alessandro; Nicosia, Franco; Bonini, Luisa; Neri, Francesca; Tremolizzo, Lucio; Nacinovich, Renata

2014-02-28

Aim of this study consisted in assessing the 24-h heart rate variability (HRV), a measure of autonomic nervous system (ANS) imbalance, in 21 adolescents with functional hypothalamic amenorrhea (FHA, 11 normogonadotropic, N-FHA, and 10 hypogonadotropic, Hy-FHA) compared to 21 patients with anorexia nervosa (AN) and 21 controls. As expected, subjects with AN showed a significant dysregulation in multiple HRV parameters, while Hy-FHA patients presented with a dysregulation in a few domains (SDNN, HFr), which was not present in girls with N-FHA, who showed values largely similar to controls. FHA might represent part of the AN biological spectrum, and a link between these two conditions might exist, possibly related to the degree of psychological and/or hormonal dysfunction. © 2013 Published by Elsevier Ireland Ltd.

Mood disorders and sexual functioning in women with functional hypothalamic amenorrhea.

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Dundon, Carolyn M; Rellini, Alessandra H; Tonani, Silvia; Santamaria, Valentina; Nappi, Rosella

2010-11-01

To investigate the sexual function of women with functional hypothalamic amenorrhea (FHA) and to test the mediating effects of depression and anxiety on the sexual functioning of women with FHA. In this cross-sectional study, participants completed questionnaires on sexual function, depression, and anxiety. Tertiary care university hospital. Women with (n=41) and without (n=39) FHA recruited from a gynecologic endocrinology unit. None. The McCoy Female Sexuality Questionnaire assessed sexual function, and the Zung Scale measured depression and anxiety. Women with FHA experienced more sexual function problems and significantly higher depression and anxiety compared to women without menstrual dysfunction. In addition, depression offered a significant explanation for the sexual problems experienced by women with FHA. The psychologic symptoms that contribute to the onset of FHA partially mediate the relationship between FHA and sexual dysfunction. Copyright © 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Uterine morphology and peristalsis in women with polycystic ovary syndrome

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Leonhardt, Henrik; Hellstroem, Mikael; Gull, Berit; Nilsson, Lars; Janson, Per O.; Kishimoto, Keiko; Kataoka, Masako; Stener-Victorin, Elisabet

2012-01-01

Background. Polycystic ovary syndrome (PCOS) is associated with chronic oligo-anovulation and high circulating sex hormone levels. Women with PCOS have an increased risk of developing endometrial cancer. In anovulatory women with PCOS a positive relationship between endometrial thickness and endometrial hyperplasia has been observed. Uterine peristalsis, which has been suggested to be of importance for female fertility, has not previously been studied in PCOS. Purpose. To assess whether women with PCOS have altered endometrial thickness, uterine wall morphology, and peristalsis. Material and Methods. In this prospective case-control study 55 women with PCOS (mean age, 29.5 years ± 4.5 SD) and 28 controls (27.6 ± 3.2) were examined using magnetic resonance imaging (MRI), assessing thickness of endometrium, junctional zone (JZ), and myometrium, and evaluating the occurrence, frequency (waves/min), strength (amplitude), pattern, and direction of peristalsis. Uterine morphology was also assessed by transvaginal ultrasonography (TVUS). Results. The endometrium was thinner in PCOS with oligo-amenorrhea compared to controls, also after adjustments for age and BMI (adjusted P = 0.043). There was no difference in thickness of the JZ or the myometrium in cases versus controls. Uterine peristalsis was less commonly observed in women with PCOS than in controls (adjusted P = 0.014). Conclusion. There were no differences in myometrial morphology between PCOS and controls, but the endometrium was thinner in PCOS with oligo-amenorrhea. Based on cine MRI, uterine peristalsis was less common in PCOS than in controls

Uterine morphology and peristalsis in women with polycystic ovary syndrome

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Leonhardt, Henrik; Hellstroem, Mikael [Department of Radiology, Institute of Clinical Sciences, Sahlgrenska University Hospital, Sahlgrenska Academy at the University of Gothenburg, Gothenburg (Sweden)], E-mail: henrik.leonhardt@vgregion.se; Gull, Berit; Nilsson, Lars; Janson, Per O. [Department of Obstetrics and Gynecology, Institute of Clinical Sciences, Sahlgrenska University Hospital, Sahlgrenska Academy at the University of Gothenburg, Gothenburg (Sweden); Kishimoto, Keiko [Department of Radiology, St Marianna University School of Medicine, Kanagawa (Japan); Kataoka, Masako [Department of Radiology, Kyoto University Hospital, Kyoto (Japan); Stener-Victorin, Elisabet [Institute of Neuroscience and Physiology, Department of Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg (Sweden)

2012-12-15

Background. Polycystic ovary syndrome (PCOS) is associated with chronic oligo-anovulation and high circulating sex hormone levels. Women with PCOS have an increased risk of developing endometrial cancer. In anovulatory women with PCOS a positive relationship between endometrial thickness and endometrial hyperplasia has been observed. Uterine peristalsis, which has been suggested to be of importance for female fertility, has not previously been studied in PCOS. Purpose. To assess whether women with PCOS have altered endometrial thickness, uterine wall morphology, and peristalsis. Material and Methods. In this prospective case-control study 55 women with PCOS (mean age, 29.5 years {+-} 4.5 SD) and 28 controls (27.6 {+-} 3.2) were examined using magnetic resonance imaging (MRI), assessing thickness of endometrium, junctional zone (JZ), and myometrium, and evaluating the occurrence, frequency (waves/min), strength (amplitude), pattern, and direction of peristalsis. Uterine morphology was also assessed by transvaginal ultrasonography (TVUS). Results. The endometrium was thinner in PCOS with oligo-amenorrhea compared to controls, also after adjustments for age and BMI (adjusted P = 0.043). There was no difference in thickness of the JZ or the myometrium in cases versus controls. Uterine peristalsis was less commonly observed in women with PCOS than in controls (adjusted P = 0.014). Conclusion. There were no differences in myometrial morphology between PCOS and controls, but the endometrium was thinner in PCOS with oligo-amenorrhea. Based on cine MRI, uterine peristalsis was less common in PCOS than in controls.

Cushing syndrome and the anesthesiologist, two case reports

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Rudin Domi

2011-01-01

Full Text Available Cushing′s syndrome (CS is associated with reduced life quality and increased mortality, mostly due to cardiovascular disease. The features of this syndrome are central obesity, moon facies, facial plethora, supraclavicular fat pads, buffalo hump, and purple striae. Other complications include hyperglycemia, hypertension, proximal muscle weakness, skin thinning, menstrual irregularities, amenorrhea and osteopenia. These make perioperative and anesthetic management difficult and present a challenge to the operating team, especially the anaesthesiologist. In this paper, we present two such cases of CS, which were treated with adrenalectomy. We aim to highlight the special care and precautions that need to be taken while administering anesthesia, and in the post operatory period. Anaesthesia induction in the two cases of CS was done prior to the adrenalectomy procedure and special pre and post operative care was taken. Continuous intra operative monitoring of vitals and checking for the stability of the haemodynamics was performed. With adequate care and using advanced anesthetic techniques, the patients showed uneventful post operative recovery. Though the anesthetic management of patients with CS is difficult, desired results can be achieved with continuous monitoring and special precautions.

A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

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Salete Da Silva Rios

2015-03-01

Full Text Available Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.

Clinical characterization of patients with macroprolactinemia and monomeric hyperprolactinemia

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Murat Can

2011-05-01

Full Text Available Macroprolactinemia is often a cause of misdiagnosis, unnecessary expensive investigation, and unsuitable treatment. The aim of the present study was to investigate the clinical findings and the concentrations of macroprolactin in patients with hyperprolactinemia in our region. Eighty-four female hyperprolactinemic patients were screened for macroprolactinemia. Prolactin was measured by chemiluminesans method on an Immulite 2000 analyzer (Siemens Health Diagnostics, Deerfield, IL, USA. Recoveries less than or equal to 40% after polyethylene glycol precipitation were indicative of macroprolactinemia. Clinical features and biochemical values were compared in true hyperprolactinemic and macroprolactinemic patients. Macroprolactinemia was detected in 31 patients (36.9%, with 84 hyperprolactinemic female patients. There was no difference in frequency of galactorrhea and oligomenorrhea/amenorrhea between the two groups. When we evaluated the clinical features of patients according to prolactin levels, no significant difference was found between the groups. In conclusion, our initial data show that no clinical features could reliably differentiate macroprolactinemic from true hyperprolactinemic patients, but at least one of these symptoms was present in most macroprolactinemic patients.

Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome

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Sawicka N

2013-03-01

Full Text Available Nadia Sawicka,* Maria Gryczyńska,* Jerzy Sowiński, Monika Tamborska-Zedlewska, Marek Ruchała Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland*These authors contributed equally to this workAbstract: Hypothalamic-pituitary-adrenal axis impairment in anorexia nervosa is marked by hypercortisolemia, and psychiatric disorders occur in the majority of patients with Cushing’s syndrome. Here we report a patient diagnosed with anorexia nervosa who also developed Cushing’s syndrome. A 26-year-old female had been treated for anorexia nervosa since she was 17 years old, and also developed depression and paranoid schizophrenia. She was admitted to the Department of Endocrinology, Metabolism, and Internal Medicine with a preliminary diagnosis of Cushing’s syndrome. Computed tomography revealed a 27 mm left adrenal tumor, and she underwent laparoscopic adrenalectomy. She was admitted to hospital 6 months after this procedure, at which time she did not report any eating or mood disorder. This is a rare case report of a patient with anorexia nervosa in whom Cushing’s syndrome was subsequently diagnosed. Diagnostic difficulties were caused by the signs and symptoms presenting in the course of both disorders, ie, hypercortisolemia, osteoporosis, secondary amenorrhea, striae, hypokalemia, muscle weakness, and depression.Keywords: anorexia nervosa, Cushing’s syndrome, adrenalectomy, osteoporosis

Trends in standard workup performed by pediatric subspecialists for the diagnosis of adolescent polycystic ovary syndrome.

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Powers, Sarah E; Uliassi, Nicole W; Sullivan, Shannon D; Tuchman, Lisa K; Mehra, Rinku; Gomez-Lobo, Veronica

2015-02-01

The purpose of this study is to identify trends in the clinical workup, diagnosis, and treatment of polycystic ovary syndrome by pediatric endocrinologists, pediatric gynecologists, and adolescent medicine specialists. Retrospective chart review. Tertiary care medical center. Females aged 11-18 y who were evaluated for PCOS from June 2009 to October 2011 were included. Any patients with coexisting diagnoses of other primary etiology for amenorrhea were excluded. Patients were identified by ICD-9 codes for PCOS, hypersecretion of ovarian androgens, irregular menses, hirsutism, oligomenorrhea, or amenorrhea. 261 patients were included: 144 from endocrinology, 9 from gynecology, and 108 from adolescent pediatric practices. There were no significant differences in the androgen labs ordered by the subspecialties. Gynecologists ordered pelvic ultrasonography for 89% (n = 8) of patients, compared to 9% (n = 10) by adolescent medicine specialists and 24% (n = 34) by endocrinologists (P PCOS with metformin (58%, n = 66), compared to gynecologists (14%, n = 1) and adolescent medicine specialists (5%, n = 3) (P PCOS are evident among pediatric subspecialties, reflecting lack of standardized care for adolescents. Quantifying outcomes based on diagnostic and therapeutic approaches are important next steps. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

MUSCULAR OXIDATIVE CAPACITY IN OVARIECTOMIZED RATS DISCUSSION ON THE ENDURANCE PERFORMANCE OF FEMALE ATHLETES WITH SPORTS-RELATED-AMENORRHEA

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Natsuo Yasui

2004-11-01

Full Text Available The purpose of this study was to evaluate the effects of ovariectomy on intramuscular energy metabolism in adult rats. Based on the results, we discussed the skeletal muscle metabolism in female athlete with sports related amenorrhea. Twenty-five adult (20-week-old Sprague-Dawley female rats were used. Fifteen rats underwent ovariectomy (OVX group, and the other ten rats were sham-operated (Sham group. One and four weeks after surgery, muscular oxidative capacity was measured using 31P-MR spectra of the gastrocnemius-plantaris-soleus (GPS muscles group at rest and during electric stimulation. Wet weight and maximum tension of the whole GPS muscles group were also measured. From the MRS measurements, the muscle oxidative capacity in the OVX group was significantly lower than that in the Sham group (p < 0.05 at both one and four weeks after surgery. The muscle's wet weight one week after surgery in the OVX group was the same as the Sham group, while four weeks after surgery it was significantly greater than that in the Sham group (p < 0.05. There were no significant differences in maximum tension among the groups. In conclusion, in adult rats the oxidative capacity decreased due to ovariectomy despite the increase in muscle weight. It is suggested that the muscular endurance capacity in female adult athletes with sports related amenorrhea may deteriorate.

Diet and insulinlike growth factor I in relation to body composition in women with exercise-induced hypothalamic amenorrhea.

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Crist, D M; Hill, J M

1990-06-01

To assess the potential influence of diet and endogenous peptide anabolic hormone secretion on exercise-related differences in body composition, we compared levels of macronutrient intake, insulinlike growth factor I (IGF-I), and fat-free mass (FFM) and fat mass (FM) in matched groups of exercising women with and without secondary hypothalamic amenorrhea. Women were tightly matched according to somatotype and grouped into those with exercise amenorrhea (EXam, n = 6), exercise eumennorhea (EXeu, n = 5), and sedentary eumennorheic controls (SED, n = 5). Although no between-group difference was observed in FFM, the EXeu subjects had a significantly lower fat fraction and a significantly elevated FFM/FM ratio. Kilocaloric and protein intakes did not differ between groups, but dietary fat intake was lowest and carbohydrate intake highest in the EXam subjects. Dietary macronutrients were not correlated with the FFM/FM ratio. However, levels of insulinlike growth factor I were significantly correlated to the FFM/FM ratio and there was a clear trend for the hormone to be highest in the EXeu subjects. We conclude that differences in body composition between exercising women with and without exercise-induced hypothalamic-pituitary dysfunction were related to an alteration in IGF-I secretion, although differences in macronutrient intake might also be a factor. Further studies are warranted to elaborate upon the dietary and hormonal factors regulating the body composition response to exercise.

Acetyl-L-carnitine (ALC) administration positively affects reproductive axis in hypogonadotropic women with functional hypothalamic amenorrhea.

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Genazzani, A D; Lanzoni, C; Ricchieri, F; Santagni, S; Rattighieri, E; Chierchia, E; Monteleone, P; Jasonni, V M

2011-04-01

Hypothalamic amenorrhea (HA) is characterized by neuroendocrine impairment that, in turn, negatively modulates endocrine function, mainly within the reproductive axis. HA presents with hypo-LH, hypoestrogenism and, until now, a definite therapeutic strategy has not yet been found. The aim of the following study was to test the efficacy of acetyl-L-carnitine (ALC) administration in HA-affected subjects. Twenty-four patients affected by stress-induced HA were divided into two groups according to LH plasma levels: group A, hypo-LH (LH≤3 mIU/ml; no.=16), and group B, normo-LH (LH>3 mIU/ml; no.=8), were treated with ALC (1 g/day, per os) for 16 weeks. Patients underwent baseline hormonal assessment, pulsatility test (for LH and FSH), naloxone test (for LH, FSH and cortisol) both before and after 16 weeks of treatment. Under ALC administration hypo-LH patients showed a significant increase in LH plasma levels (from 1.4±0.3 to 3.1±0.5 mIU/ml, p<0.01) and in LH pulse amplitude (p<0.001). No changes were observed in the normo-LH group. LH response to naloxone was restored under ALC therapy. Maximal LH response and area under the curve under naloxone were significantly increased (p<0.05 and p<0.01, respectively). No changes were observed in the normo-LH patients. Our data support the hypothesis of a specific role of ALC on counteracting the stress-induced abnormalities in hypo-LH patients affected by hypothalamic amenorrhea.

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

DEFF Research Database (Denmark)

Sehested, Line T; Møller, Rikke S; Bache, Iben

2010-01-01

We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphi...... patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.......We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...... and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2¿Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our...

Prolonged treatment with N-acetylcysteine and L-arginine restores gonadal function in patients with polycystic ovary syndrome.

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Masha, A; Manieri, C; Dinatale, S; Bruno, G A; Ghigo, E; Martina, V

2009-12-01

Nitric oxide (NO) plays a wide spectrum of biological actions including a positive role in oocyte maturation and ovulation. Free radicals levels have been shown elevated in polycystic ovary syndrome (PCOS) and therefore would be responsible for quenching NO that, in turn, would play a role in determining oligo- or amenorrhea connoting PCOS. Eight patients with PCOS displaying oligo-amenorrhea from at least 1 yr underwent a combined treatment with N-acetylcysteine (NAC) (1200 mg/die) plus L-arginine (ARG) (1600 mg/die) for 6 months. Menstrual function, glucose and insulin levels, and, in turn, homeostasis model assessment (HOMA) index were monitored. Menstrual function was at some extent restored as indicated by the number of uterine bleedings under treatment (3.00, 0.18-5.83 vs 0.00, 0.00-0.83; p<0.02). Also, a well-defined biphasic pattern in the basal body temperature suggested ovulatory cycles. The HOMA index decreased under treatment (2.12, 1.46-4.42 vs 3.48, 1.62-5.95; p<0.05). In conclusion, this preliminary, open study suggests that prolonged treatment with NAC+ARG might restore gonadal function in PCOS. This effect seems associated to an improvement in insulin sensitivity.

The female athlete triad.

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Kazis, Keren; Iglesias, Elba

2003-02-01

The female athlete triad is a syndrome consisting of disordered eating, amenorrhea, and osteoporosis. The syndrome is increasing in prevalence as more women are participating in sports at a competitive level. Behaviors such as intense exercise or disordered eating patterns can lead to dysregulation of the hypothalamic-pituitarian-ovarian (HPO) axis, resulting in amenorrhea. Hypothalamic amenorrhea can lead to osteoporosis and increased fracture risk. Adolescents may particularly be at risk because it is during this crucial time that females attain their peak bone mass. Prevention of the female athlete triad through education and identification of athletes at risk may decrease the incidence of long-term deleterious consequences. Treatment of the female athlete triad is initially aimed at increasing caloric intake and decreasing physical activity until there is resumption of normal menses. Treatment of decreased bone mineral density and osteoporosis in the adolescent population, however, is controversial, with new treatment modalities currently being investigated in order to aid in the management of this disorder.

Metformin for treatment of antipsychotic-induced amenorrhea and weight gain in women with first-episode schizophrenia: a double-blind, randomized, placebo-controlled study.

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Wu, Ren-Rong; Jin, Hua; Gao, Keming; Twamley, Elizabeth W; Ou, Jian-Jun; Shao, Ping; Wang, Juan; Guo, Xiao-Feng; Davis, John M; Chan, Philip K; Zhao, Jing-Ping

2012-08-01

Data on the treatment of antipsychotic-induced amenorrhea, particularly when occurring with weight gain, are limited. The authors investigated the efficacy and safety of metformin in the treatment of antipsychotic-induced amenorrhea and weight gain in women with first-episode schizophrenia. Eighty-four women (ages 18-40 years) with first-episode schizophrenia who suffered from amenorrhea during antipsychotic treatment were randomly assigned, in a double-blind study design, to receive 1000 mg/day of metformin or placebo in addition to their antipsychotic treatment for 6 months. The primary outcome measures were restoration of menstruation and change in body weight and body mass index (BMI). Secondary outcome measures were changes in levels of prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, and testosterone; in fasting levels of insulin and glucose; in LH/FSH ratio; and in insulin resistance index. Repeated mixed models with repeated-measures regression analyses and binary logistic regression were used in the analysis. A total of 76 patients completed the 6-month trial. Significantly more patients in the metformin group (N=28, 66.7%) than in placebo group (N=2, 4.8%) resumed their menstruation. Among patients treated with metformin, BMI decreased by a mean of 0.93 and the insulin resistance index by 2.04. In contrast, patients who received placebo had a mean increase in BMI of 0.85. The prolactin, LH, and testosterone levels and LH/FSH ratio decreased significantly in the metformin group at months 2, 4, and 6, but these levels did not change in the placebo group. Metformin was effective in reversing antipsychotic-induced adverse events, including restoration of menstruation, promotion of weight loss, and improvement in insulin resistance in female patients with schizophrenia.

Premature ovarian failure

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Persani Luca

2006-04-01

Full Text Available Abstract Premature ovarian failure (POF is a primary ovarian defect characterized by absent menarche (primary amenorrhea or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea. It is a heterogeneous disorder affecting approximately 1% of women e.g. Turner syndrome represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of the cases. Management includes substitution of the hormone defect by estrogen/progestin preparations. The only solution presently available for the fertility defect in women with absent follicular reserve is ovum donation.

Features of Turner syndrome among a group of Cameroonian patients.

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Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

2015-06-01

To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Functional Hypothalamic Amenorrhea: An Endocrine Society Clinical Practice Guideline.

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Gordon, Catherine M; Ackerman, Kathryn E; Berga, Sarah L; Kaplan, Jay R; Mastorakos, George; Misra, Madhusmita; Murad, M Hassan; Santoro, Nanette F; Warren, Michelle P

2017-05-01

The American Society for Reproductive Medicine, the European Society of Endocrinology, and the Pediatric Endocrine Society. This guideline was funded by the Endocrine Society. To formulate clinical practice guidelines for the diagnosis and treatment of functional hypothalamic amenorrhea (FHA). The participants include an Endocrine Society-appointed task force of eight experts, a methodologist, and a medical writer. This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation approach to describe the strength of recommendations and the quality of evidence. The task force commissioned two systematic reviews and used the best available evidence from other published systematic reviews and individual studies. One group meeting, several conference calls, and e-mail communications enabled consensus. Endocrine Society committees and members and cosponsoring organizations reviewed and commented on preliminary drafts of this guideline. FHA is a form of chronic anovulation, not due to identifiable organic causes, but often associated with stress, weight loss, excessive exercise, or a combination thereof. Investigations should include assessment of systemic and endocrinologic etiologies, as FHA is a diagnosis of exclusion. A multidisciplinary treatment approach is necessary, including medical, dietary, and mental health support. Medical complications include, among others, bone loss and infertility, and appropriate therapies are under debate and investigation. Copyright © 2017 Endocrine Society

Chemotherapy-induced amenorrhea and the resumption of menstruation in premenopausal women with hormone receptor-positive early breast cancer.

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Koga, Chinami; Akiyoshi, Sayuri; Ishida, Mayumi; Nakamura, Yoshiaki; Ohno, Shinji; Tokunaga, Eriko

2017-09-01

For premenopausal women with breast cancer, information on the effects of chemotherapy and the risk of infertility is important. In this study, the effect of chemotherapy on the ovarian function in premenopausal women with hormone receptor-positive breast cancer was investigated, with an age-stratified analysis of the appearance of amenorrhea and the resumption of menstruation after the use of chemotherapy with anthracyclines or taxanes. Premenopausal women diagnosed with operable Stage I-III hormone receptor-positive breast cancer and underwent neoadjuvant or adjuvant chemotherapy with the standard regimen of anthracyclines and/or taxanes were included. The patients were classified into age groups in 5-year increments, and the rates of chemotherapy-induced amenorrhea (CIA), resumption of menstruation, and duration of CIA after chemotherapy were analyzed. The subjects consisted of 101 patients (median age 45 years). CIA occurred in 97 (96%) patients and 40 patients resumed menstruation. In all patients aged ≤39 years menstruation restarted, whereas in all patients aged ≥50 years, menstruation did not restart. For the patients who resumed menstruation, the younger the patients, the sooner menstruation tended to restart. The resumption of menstruation occurred within 1 year for younger patients aged around 30 years, but for those aged ≥35 years, 60% of cases took around 2-3 years for resumption. The incidence of CIA, the resumption of menstruation and duration of CIA after chemotherapy depend greatly on the patient's age.

Effects of oral contraceptives on natriuretic peptide levels in women with hypothalamic amenorrhea: a pilot study.

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Lin, Eleanor; Grinspoon, Steven; Wang, Thomas; Miller, Karen K

2011-06-30

Natriuretic peptides, which are important regulators of salt handling and blood pressure, are 60%-75% higher in healthy young women than in men, consistent with a gender dimorphism. In this randomized, placebo-controlled study in women with functional hypothalamic amenorrhea, we show that administration of oral contraceptives (OC) increases natriuretic peptide levels and that end-of-study free T levels are inversely associated with amino-terminal pro-B-type natriuretic peptide levels, consistent with the hypothesis that natriuretic peptide levels may be mediated by differences in gonadal steroid concentrations-estrogens (E) or androgens. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

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Çatlı, Gönül; Alparslan, Caner; Can, P Şule; Akbay, Sinem; Kelekçi, Sefa; Atik, Tahir; Özyılmaz, Berk; Dündar, Bumin N

2015-06-01

46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.

Long-term follow-up of functional hypothalamic amenorrhea and prognostic factors.

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Falsetti, Leopoldo; Gambera, Alessandro; Barbetti, Lorena; Specchia, Cristina

2002-02-01

This study evaluated the prognosis of functional hypothalamic amenorrhea (FHA) and the predictive factors of recovery, through a long-term follow-up. Ninety-three women affected by FHA underwent a follow-up for an average period of 8.1 yr (range 7-9 yr). At the end of the follow-up, 65 (70.7%) patients recovered. Statistical analysis showed that there was no association between recovery and anamnestic causes of FHA or with the echographic ovarian morphology but identified the predictive factors of recovery as the basal body mass index (BMI), the basal cortisol, and androstenedione plasma levels. A higher basal BMI and A, and lower cortisol values are positive prognostic factors for the recovery. Also the BMI, acquired during the follow-up, is important for FHA resolution: in fact, in recovered women the BMI increased or remained stable, whereas in nonrecovered women it decreased or remained stable. At the end of the follow-up, 52 (74.3%) patients treated with hormone replacement therapy and 8 (80%) with no therapy recovered, but only 5 (41.7%) with oral contraceptive pills recovered.

[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

Science.gov (United States)

Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

2017-02-10

To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

Ovarian Sertoli-Leydig Cell Tumor with Elevated Inhibin B As a Cause of Secondary Amenorrhea in Adolescents with Germline DICER1 Mutation

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2017-04-06

history was significant for a right ovarian SLCT, found at age eight years which presented with ovarian torsion. The tumor was 12 cm in size, para...was International Federation of Obstetrics and Gynecology (FIGO) stage IC due to involved peritoneal washings at the pel vie entry . The patient...patient with secondary amenorrhea involves a thorough history and physical exam to look for progression of height, weight, and Tanner staging

Elevated PYY is associated with energy deficiency and indices of subclinical disordered eating in exercising women with hypothalamic amenorrhea.

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Scheid, Jennifer L; Williams, Nancy I; West, Sarah L; VanHeest, Jaci L; De Souza, Mary Jane

2009-02-01

The purpose of this study was twofold: (1) to determine if gastrointestinal hormones, associated with energy intake and energy balance, are altered in exercising women with hypothalamic amenorrhea and (2) to assess the association between gastrointestinal hormones and behavioural indicators of subclinical disordered eating in exercising women with hypothalamic amenorrhea. This cross-sectional study analyzed serum ghrelin, peptide YY (PYY), glucagon-like peptide-1 (GLP-1), menstrual status (by E1G and PdG), resting energy expenditure (REE), and subclinical eating behaviours in sedentary ovulatory (SedOv), exercising ovulatory (ExOv), and exercising amenorrheic (ExAmen) women. Groups were similar with respect to age (23.8+/-0.6 years) and BMI (21.4+/-0.3 kg/m(2)). The ratio of REE to predicted REE (REE:predicted REE) was 0.94+/-0.02, 0.94+/-0.02, and 0.88+/-0.02 in the SedOv, ExOv, and ExAmen groups, respectively. The REE:predicted REE in the ExAmen group was consistent with an energy deficiency. LogPYY, ghrelin, dietary cognitive restraint, and drive for thinness were elevated in the ExAmen group compared to other groups. GLP-1 concentrations were similar among groups. LogPYY correlated with drive for thinness and REE/FFM. In conclusion, fasting PYY and ghrelin concentrations are elevated in exercising women with FHA and both gastrointestinal peptides may serve as a proxy indicator of energy deficiency in this population.

Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic.

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Vincent, A J; Nguyen, H H; Ranasinha, S; Vollenhoven, B

2017-10-01

Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis. Median age at TS diagnosis was 14 years (range 0-65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16-65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44-76%) and those with positive screening diagnoses (5-53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea. A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.

Hyperandrogenism in female athletes with functional hypothalamic amenorrhea: a distinct phenotype.

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Javed, Asma; Kashyap, Rahul; Lteif, Aida N

2015-01-01

To compare the reproductive, metabolic, and skeletal profiles of young athletic women with functional hypothalamic amenorrhea (FHA) as well as clinical or biochemical hyperandrogenism (FHA-EX+HA) with body mass index matched women with FHA due to exercise (FHA-EX) or anorexia nervosa (FHA-AN) alone. Retrospective cohort study. Tertiary care teaching hospital. Adolescents and young women, 15-30 years of age, diagnosed with FHA along with concurrent signs of hyperandrogenism (n=22) and body mass index matched control groups consisting of 22 women in each group of FHA-EX and FHA-AN. 1) Reproductive hormone profile: luteinizing hormone (LH), follicle stimulating hormone (FSH), total testosterone, pelvic ultrasound features. 2) Metabolic function and skeletal health markers: fasting glucose, cholesterol, number of stress fractures and bone mineral density as assessed by spine dual-energy X-ray absorptiometry z scores. FHA-EX+HA group was older at diagnosis compared to the other groups with a median (interquartile range [IQR]) age of 22 (18.75-25.25) years versus (vs) 17.5 (15.75-19) for FHA-EX; (P<0.01) and 18 (16-22.25) years for FHA-AN (P=0.01). There were no differences among the groups based on number of hours of exercise per week, type of physical activity or duration of amenorrhea. Median (IQR) LH/FSH ratio was higher in FHA-EX+HA than both other groups, 1.44 (1.03-1.77) vs 0.50 (0.20-0.94) for FHA-EX and 0.67 (0.51-0.87) for FHA-AN (P<0.01 for both). Total testosterone concentrations were not different among the groups. Median (IQR) fasting serum glucose concentration was higher in FHA-EX+HA vs FHA-EX, 88.5 mg/dL (82.8-90 mg/dL) vs 83.5 mg/dL (78.8-86.3 mg/dL) (P=0.01) but not different from FHA-AN (P=0.31). Percentage of women with stress fractures was lower in FHA-EX+HA (4.5%) as compared to both FHA-EX (27.3%) and FHA-AN (50%); P=0.04 and 0.01 respectively. The LH/FSH ratio was weakly positively associated with serum glucose (adjusted r (2)=0.102; P=0.01) as

Clinical and inheritance profiles of Kallmann syndrome in Jordan

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Shegem Nadima S

2004-10-01

Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

Genetics Home Reference: Perrault syndrome

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... Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their ...

Successful Pregnancies and Deliveries in a Patient With Evolving Hypopituitarism due to Pituitary Stalk Transection Syndrome: Role of Growth Hormone Replacement

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Yoshizawa, Miyako; Ieki, Yasuhiko; Takazakura, Eisuke; Fukuta, Kaori; Hidaka, Takao; Wakasugi, Takanobu; Shimatsu, Akira

2017-01-01

We herein report a 31-year-old Japanese woman with evolving hypopituitarism due to pituitary stalk transection syndrome. She had a history of short stature treated with growth hormone (GH) in childhood and had hypothyroidism and primary amenorrhea at 20 years old. Levothyroxine replacement and recombinant follicle stimulating hormone-human chorionic gonadotropin (FSH-hCG) therapy for ovulation induction were started. GH replacement therapy (GHRT) was resumed when she was 26 years old. She developed mild adrenocortical insufficiency at 31 years old. She succeeded in becoming pregnant and delivered twice. GHRT was partially continued during pregnancy and stopped at the end of the second trimester without any complications. PMID:28250299

Functional hypothalamic amenorrhea and its psychological correlates: a controlled comparison.

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Pentz, Ivana; Nakić Radoš, Sandra

2017-04-01

The goal of the study was to examine differences between adolescents and young women with functional hypothalamic amenorrhea (FHA) and control groups in personality traits, eating attitudes and behaviours, and perception of parental behaviour. The FHA is stress-induced anovulation, both related to metabolic challenges, such as excessive exercise and malnutrition, and psychogenic challenges, such as perfectionism and poor coping strategies. Three groups of adolescents and young women participated in the study: the FHA group (N = 25), the organic anovulation group (N = 21) and the eumenorrheic group with regular menstrual cycle (N = 20). Questionnaires on multidimensional perfectionism, self-control methods, eating attitudes and behaviours and perception of parental behaviour were administered. A clinical interview (SCID) was conducted with each participant. The FHA group had higher levels of perfectionism traits, i.e. higher levels of concerns over mistakes and personal standards, compared to control groups. The FHA group did not engage in disordered eating behaviours more often in comparison with control groups, but reported more prevalent history of anorexia nervosa. The FHA group did not differ from controls in perception of parental rejection, emotional warmth or overprotection. The findings suggest that FHA can be characterised by the subtle psychological differences in personality traits, so the patients need to be diagnosed carefully.

Clinical characteristics in Taiwanese women with polycystic ovary syndrome

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2015-01-01

Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age. PMID:26473107

Clinical review: Cardiovascular consequences of ovarian disruption: a focus on functional hypothalamic amenorrhea in physically active women.

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O'Donnell, Emma; Goodman, Jack M; Harvey, Paula J

2011-12-01

Evidence indicates that hypoestrogenemia is linked with accelerated progression of atherosclerosis. Premenopausal women presenting with ovulatory disruption due to functional hypothalamic amenorrhea (FHA) are characterized by hypoestrogenemia. One common and reversible form of FHA in association with energy deficiency is exercise-associated amenorrhea (EAA). Articles were found via PubMed search for both original and review articles based on peer review publications between 1974 and 2011 reporting on cardiovascular changes in women with FHA, with emphasis placed on women with EAA. Despite participation in regular exercise training, hypoestrogenic women with EAA demonstrate paradoxical changes in cardiovascular function, including endothelial dysfunction, a known permissive factor for the progression and development of atherosclerosis. Such alterations suggest that the beneficial effects of regular exercise training on vascular function are obviated in the face of hypoestrogenemia. The long-term cardiovascular consequences of altered vascular function in response to ovulatory disruption in women with EAA remain to be determined. Retrospective data, however, suggest premature development and progression of coronary artery disease in older premenopausal women reporting a history of hypothalamic ovulatory disruption. Importantly, in women with EAA, estrogen therapy, folic acid supplementation without change in menstrual status, and resumption of menses restores endothelial function. In this review, we focus on the influence of hypoestrogenemia in association with energy deficiency in mediating changes in cardiovascular function in women with EAA, including endothelial function, regional blood flow, lipid profile, and autonomic control of blood pressure, heart rate, and baroreflex sensitivity. The influence of exercise training is also considered. With the premenopausal years typically considered to be cardioprotective in association with normal ovarian function

Perinatal History and Functional Features of Reproductive System of Mothers of Adolescent Girls with Secondary Amenorrhea

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T.A. Nachotova

2014-03-01

Full Text Available Perinatal histories of 172 adolescent girls aged 13–17 years with secondary amenorrhea (SA and 102 age-matched girls with regular menstrual cycle (comparison group, and reproductive status of their mothers have been studied. It has been found that the most unfavorable factor affecting the formation of SA in adolescent girls is the late menarche in their mothers. It is found that the probability of SA in girls born from the mothers with late menarche right after menarche or after previous menstrual disorders is 16-fold increased. Ir is determined that particularly unfavorable factor, 3-fold increasing the risk of the transformation of olygomenorrhea or pubertal uterine bleeding into SA, is the low birth weight registered in the patient’s history.

Influence of ghrelin and adipocytokines on bone mineral density in adolescent female athletes with amenorrhea and eumenorrheic athletes.

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Russell, Melissa; Misra, Madhusmita

2010-01-01

Adolescent female athletes are at increased risk for low bone mineral density (BMD) secondary to exercise-induced hypogonadism. Of particular concern is that the adolescent years are also a critical time for bone accrual, and deficits incurred during this period could lead to suboptimal peak bone mass acquisition and subsequent fracture risk in later life. Although weight-bearing exercise is typically associated with an increase in BMD, amenorrheic athletes have lower BMD than eumenorrheic athletes and nonathletic controls as a consequence of low energy availability and subsequent hypogonadism. It is important to recognize that critical interactions exist between net energy availability and the hypothalamo-pituitary-gonadal (H-P-G) axis that are key to the development of a hypogonadal state when energy intake cannot keep pace with expenditure. While the link between energy availability and gonadtotropin pulsatility patterns is well established, the actual metabolic signals that link the two are less clear. Decreased energy availability in athletes is associated with decreases in fat mass, and alterations in adipokines (such as leptin and adiponectin) and fat-regulated hormones (such as ghrelin and peptide YY). These hormones impact the H-P-G axis in animal models, and it is possible that in athletes alterations in fat-related hormones signal the state of energy availability to the hypothalamus and contribute to suppression of gonadotropin pulsatility, hypothalamic amenorrhea and consequent decreased BMD. A better understanding of pathways linking low energy availability with functional hypothalamic amenorrhea and low BMD is critical for the development of future therapeutic strategies addressing these issues in amenorrheic athletes. Copyright © 2010 S. Karger AG, Basel.

Polycystic ovary syndrome: clinical and laboratory evaluation

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Marcos Yorghi Khoury

Full Text Available OBJECTIVE: To evaluate clinically, and with laboratory, tests, women with polycystic ovary syndrome (PCO. PATIENTS: One hundred and twelve women with PCO were studied. METHODS: The following data was recorded: Current age; age at menarche; menstrual irregularity, occurrence of similar cases in the family; fertility, obstetric history; body mass index (BMI; and presence of hirsutism. Serum measurements of follicle stimulating hormone (FSH, luteinizing hormone (LH, prolactin, free testosterone, and dehydroepiandrosterone sulfate were taken. RESULTS: All patients presented either oligomenorrhea (31 percent, periods of secondary amenorrhea (9 percent, or both alterations (60 percent. The majority of the patients were infertile (75.6 percent. The LH/FSH ratio was higher than 2:1 in 55 percent of the patients and higher than 3:1 in 26.2 percent. The ultrasonographic aspect of the ovaries was considered to be normal in 31 percent. CONCLUSION: The main clinical feature of the PCO is the irregularity of menses since menarche, and that the laboratory tests would be important to exclude other disorders such as hyperprolactinemia or hyperandrogenemia caused by late-onset congenital adrenal hyperplasia.

Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

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Oktay, Kutluk; Bedoschi, Giuliano; Berkowitz, Karen; Bronson, Richard; Kashani, Banafsheh; McGovern, Peter; Pal, Lubna; Quinn, Gwendolyn; Rubin, Karen

2016-10-01

In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. Copyright © 2016 North American Society for Pediatric and

Fertility Preservation in Females with Turner Syndrome: A Comprehensive Review and Practical Guidelines

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Oktay, K; Bedoschi, G; Berkowitz, K; Bronson, R; Kashani, B; McGovern, P; Pal, L; Quinn, G; Rubin, K

2016-01-01

This article reviews the existing fertility preservation options for females diagnosed with Turner syndrome and provides practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately one in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility. Although about 70–80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder may possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, so as to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood as the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, while cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remain investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 and ovarian tissue cryopreservation in prepubertal children affected. However, current efficacy of these approaches is unknown in this cohort.. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of desire for parenting. For those with Turner syndrome related cardiac contraindications to pregnancy, utilization of gestational surrogacy allows the possibility of biological parenting by using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. PMID:26485320

Induction and prevention of low-T3 syndrome in exercising women.

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Loucks, A B; Callister, R

1993-05-01

To investigate the influence of exercise on thyroid metabolism, 46 healthy young regularly menstruating sedentary women were randomly assigned to a 3 x 2 experimental design of aerobic exercise and energy availability treatments. Energy availability was defined as dietary energy intake minus energy expenditure during exercise. After 4 days of treatments, low energy availability (8 vs. 30 kcal.kg body wt-1.day-1) had reduced 3,5,3'-triiodothyronine (T3) by 15% and free T3 (fT3) by 18% and had increased thyroxine (T4) by 7% and reverse T3 (rT3) by 24% (all P Exercise quantity (0 vs. 1,300 kcal/day) and intensity (40 vs. 70% of aerobic capacity) did not affect any thyroid hormone (all P > 0.10). That is, low-T3 syndrome was induced by the energy cost of exercise and was prevented in exercising women by increasing dietary energy intake. Selective observation of low-T3 syndrome in amenorrheic and not in regularly menstruating athletes suggests that exercise may compromise the availability of energy for reproductive function in humans. If so, athletic amenorrhea might be prevented or reversed through dietary reform without reducing exercise quantity or intensity.

Research Article

African Journals Online (AJOL)

2016-06-25

Jun 25, 2016 ... Turner syndrome were developing to hypogonadism in addition to primary ... These sisters had also male sexual organ in ..... amenorrhea, genetic counseling along with hormone therapy, and other treatment methods are.

Epidemiology, diagnosis, and management of polycystic ovary syndrome

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Sirmans SM

2013-12-01

Full Text Available Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.Keywords: polycystic ovary syndrome

Pituitary gonadotropic hormones in women with oligo/amenorrhoea

International Nuclear Information System (INIS)

Sultana, A.; Nadir, S.

2008-01-01

Any abnormality of menstrual cycle makes women worried and requires proper evaluation. Oligomenorhea is one of the indicators of Polycystic Disease of the Ovary (PCO) which is associated not only with reproductive failure but it also has metabolic and cardiovascular complications. The recent study was conducted to find out the role of Pituitary Gonadotropins in the diagnosis. After diagnosing and finding out the cause for menstrual irregularities and chronic anovulation one can explain the prognosis and management of these disorders. Fifty patients were studied in the year 2005-06 in the outpatient department of Khyber Teaching Hospital Peshawar. A history Performa was duly completed in all subjects. Blood sample was collected for hormonal essay during first ten days of the cycle. Hormonal essay was performed by Microparticle enzyme immunoassay (MEIA) on AXSYM system of Abbott. Age ranged from 13-45 years, 82% of the women were infertile, 60% had infrequent periods and 22% of the women had amenorrhea, 30% patients were overweight while 48% were obese. Physical examination revealed hersuitism in 24%, acne in 8% and galactorrhea in 6% of the patients. Ultrasound examination showed classical picture of PCO in 28% patients while 32% women had multiple small follicles and 16 % women were devoid of follicles. Elevated LH levels were found in 36% women. FSH level were found normal in 64% patients while in 16% women the levels were in menopausal range. LH/FSH ratio of more than two was observed in 52% women. Prolactin level was raised in 22% women. TSH level was below normal in 16% and higher in 22% women. Hormonal essays are mandatory in the evaluation of women presenting with Oligomenorhea/amenorrhea and chronic anovulatory infertility for finding out the cause and explaining the prognosis of the disease to the patient. (author)

The Effect of Citalopram on Midbrain CRF Receptors 1 and 2 in a Primate Model of Stress-Induced Amenorrhea

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Senashova, Olga; Reddy, Arubala P.; Cameron, Judy L.; Bethea, Cynthia L.

2012-01-01

We have demonstrated marked differences in the neurobiology of the serotonin system between stress-sensitive (SS) and stress-resilient (SR) cynomolgus macaques characterized in a model of stress-induced amenorrhea, also called functional hypothalamic amenorrhea (FHA). Dysfunction of the serotonin system in SS monkeys suggested that administration of a selective serotonin reuptake inhibitor (SSRI) might correct FHA. This study examines the effect of escitalopram (CIT) administration to SS and SR monkeys on corticotrophin-releasing factor (CRF) receptor 1 (CRF-R1) and CRF receptor 2 (CRF-R2) gene expression in the serotonin cell body region of the midbrain dorsal raphe. CRF-R1 was not significantly different between groups. There was a significant effect of treatment and a significant interaction between treatment and stress sensitivity on the average CRF-R2-positive pixel area (P < .004 and P < .006, respectively) and on the average number of CRF-R2-positive cells (P < .023 and P < .025, respectively). CIT significantly increased CRF-R2-positive pixel area and cell number in the SS group (pixel area P < .001; cell number P < .01; Bonferoni) but not in the SR group. In summary, CIT administration tended to decrease CRF-R1, but the small animal number precluded significance. CIT administration significantly increased CRF-R2 only in SS animals. These data suggest that the administration of CIT reduces anxiogenic components and increases anxiolytic components of the CRF system in the midbrain serotonin network, which in turn leads to improved ovarian function. Moreover, these data raise the possibility that SSRIs may be effective in the treatment of stress-induced infertility. PMID:22412189

[Chemotherapy-Induced Amenorrhea and Menopause Symptoms in Women With Breast Cancer].

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Li, Chia-Ying; Chen, Mei-Ling

2016-10-01

Chemotherapy is a common adjuvant therapy for breast cancer that improves survival rates by killing residual cancer cells. However, this intervention may damage the germ cells within the ovary and interrupt the menstrual cycle, ultimately leading to chemotherapy-induced amenorrhea (CIA). The incidence of CIA depends on how broadly this term is defined. Around 75% of premenopausal breast cancer women treated with chemotherapy will develop CIA. Age, having a relatively long chemotherapy cycle duration, being estrogen-receptor positive, and using Tamoxifen all increase the risk of CIA. Although CIA may be associated with better prognosis outcomes, breast cancer women must subsequently deal with the various menopausal symptoms that are associated with a CIA-induced drop in estrogen level (such as cognitive function decline, physical and psychological symptoms, vasomotor symptoms, reproductive and sexual function problems, and body weight change). The present article describes the female menstrual cycle, the mechanism and risk factors of CIA, and the range of menopausal symptoms. Furthermore, we summarized methods of assessing menopausal symptoms and compared five common rating scales of menopausal symptoms. By better understanding the potential menopausal symptoms, researchers and clinicians may then select the most appropriate scale based on the situational needs in order to evaluate the severity of menopausal symptoms that are experienced by breast cancer women.

Amenorréia primária e cariótipo XY: identificando pacientes em risco Primary amenorrhea and XY karyotype: identifying patients in risk

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Rafael Fabiano Machado Rosa

2008-11-01

ser rotineiramente avaliados em indivíduos com amenorréia primária. Dessa forma, haveria um reconhecimento mais precoce das pacientes 46,XY e, conseqüentemente, um adequado manejo clínico das mesmas.PURPOSE: to verify the prevalence and clinical characteristics of patients with primary amenorrhea and XY caryotype, evaluated in our Service, aiming at identifying findings which could help their recognition. METHODS: from January 1975 to November 2007, 104 patients with amenorrhea were evaluated. All the cases were analyzed by the caryotype by GTG bands. Among them, 21 (20.2% presented a XY 46 constitution. Nevertheless, two of them were excluded from the study, because of incomplete data in their patient's chart. Most of the 19 patients who formed the sample had been referred to us by the gynecology clinics (63.2%. Their ages varied from 16 to 41 years old (an average of 22.1. Data were collected about their family and previous history, physical examination and results of complementary exams and the information was taken into consideration to determine the diagnosis. RESULTS: the predominant diagnosis was resistance to androgens syndrome (n=12; 63.2%; five patients (25.3% presented XY pure gonadal dysgenesis (XY PGD, one (5.3% 17 alpha-hydroxylase deficiency, and one (5.3%, 5 alpha-reductase deficiency. Clinical findings frequently found in these patients included abnormal development of secondary sexual characters (n=19, uterine agenesia with a blind vagina (n=14, family history of amenorrhea (n=8, and palpable gonads in the inguinal canal (n=5. Two of them presented a history of inguinal hernia. Systemic arterial hypertension was only diagnosed in the patient with 17 alpha-hydroxylase deficiency, and gonadal malignization, in the one with XY PGD. CONCLUSIONS: the rate of patients with XY caryotype (20% was higher than the one described in the literature (3 to 11%. It is believed that this fact is related to the way patients are usually referred to our service

Epidemiology, diagnosis, and management of polycystic ovary syndrome

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Sirmans, Susan M; Pate, Kristen A

2014-01-01

Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications. PMID:24379699

Epidemiology, diagnosis, and management of polycystic ovary syndrome.

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Sirmans, Susan M; Pate, Kristen A

2013-12-18

Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%-20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%-70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.

Polycystic ovary syndrome: from phenotype to genetype

NARCIS (Netherlands)

Y.V. Louwers (Yvonne)

2014-01-01

markdownabstract__Abstract__ oligomenorrhea or amenorrhea, hirsutism or hyperandrogenism and polycystic ovarian morphology. Later in life, adverse metabolic implications, such as obesity, insulin resistance, type 2 diabetes and cardiovascular disease, become more prominent. In this thesis, we

Neuroprotection via Reduction in Stress: Altered Menstrual Patterns as a Marker for Stress and Implications for Long-Term Neurologic Health in Women

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David Prokai

2016-12-01

Full Text Available Individuals under chronic psychological stress can be difficult to identify clinically. There is often no outwardly visible phenotype. Chronic stress of sufficient magnitude not only impacts reproductive function, but also concomitantly elicits a constellation of neuroendocrine changes that may accelerate aging in general and brain aging in particular. Functional hypothalamic amenorrhea, a phenotypically recognizable form of stress, is due to stress-induced suppression of endogenous gonadotropin-releasing hormone secretion. Reversal of functional hypothalamic amenorrhea includes restoration of ovulatory ovarian function and fertility and amelioration of hypercortisolism and hypothyroidism. Taken together, recovery from functional hypothalamic amenorrhea putatively offers neuroprotection and ameliorates stress-induced premature brain aging and possibly syndromic Alzheimer’s disease. Amenorrhea may be viewed as a sentinel indicator of stress. Hypothalamic hypogonadism is less clinically evident in men and the diagnosis is difficult to establish. Whether there are other sex differences in the impact of stress on brain aging remains to be better investigated, but it is likely that both low estradiol from stress-induced anovulation and low testosterone from stress-induced hypogonadism compromise brain health.

Evaluation of common mental disorders in women with polycystic ovary syndrome and its relationship with body mass index.

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Rodrigues, Cristine Eliane Gomes; Ferreira, Luana de Lima; Jansen, Karen; Lopez, Mariane Ricardo Acosta; Drews Júnior, Cláudio Raul; Souza, Luciano Dias de Mattos

2012-10-01

To evaluate the prevalence of common mental disorders in women diagnosed with polycystic ovary syndrome as compared with paired controls without this syndrome. Cross-sectional study with a Control Group examining women between the ages of 18 and 30 who did not use antidepressants and who sought the Gynecology Service of the researched sites. For every woman diagnosed with the polycystic ovary syndrome, another with the same age, educational status and presence or absence of sexual partners was sought without this diagnosis. In total, 166 patients agreed to participate, consisting of 95 diagnosed with polycystic ovary syndrome and 71 in the Control Group. The diagnosis of polycystic ovary syndrome was made by the presence of two from three criteria: oligomenorrhea or amenorrhea, clinical or biochemical hyperandrogenism and polycystic ovaries on transvaginal ultrasound, following exclusion of patients with Cushing's syndrome, congenital adrenal hyperplasia, and androgen-secreting tumors. Weight and height were measured to calculate the body mass index. The Self-Reporting Questionnaire, which evaluated 20 items, was used as an indicator of common mental disorders. A χ² analysis stratified by the category of body mass index was used to compare the prevalence of common mental disorders, between the groups of women with and without the polycystic ovary syndrome. There were no significant differences in age, education, presence of sexual partners, ethnicity, socioeconomic status, use of psychiatric medication, and search for consultation in mental health between the studied groups. The prevalence of obese women with indications of common mental disorders was significantly higher in women with polycystic ovary syndrome than in the Control Group. In the group with healthy body mass index, the incidence of common mental disorders was statistically significant different between women with polycystic ovary syndrome and normal controls (p=0.008). Women with diagnosis of this

The Risk of Amenorrhea Is Related to Chemotherapy-Induced Leucopenia in Breast Cancer Patients Receiving Epirubicin and Taxane Based Chemotherapy

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Liang, Xiuqing; He, Zhongyuan; Zha, Xiaoming; Liu, Xiaoan; Wang, Shui

2012-01-01

Background Chemotherapy-induced amenorrhea (CIA) is common in young breast cancer patients. The incidence of CIA associated with regimens involving epirubicin and taxane was not well known. Furthermore, previous studies suggested leucopenia and amenorrhea may reflect inter-individual variations in pharmacokinetics. The purpose of this study was to investigate the association between leucopenia after first cycle of chemotherapy and CIA in young breast cancer patients receiving epirubicin and taxane based chemotherapy. Furthermore, the incidence of CIA was also assessed. Methodology and Principal Findings Between October 2008 and March 2010, 186 consecutive premenopausal patients, treated with epirubicin and taxane based chemotherapy, were recruited. Information about CIA was collected by telephone and out-patient clinic. Of these 186 patients, data from 165 patients were included and analyzed. Of all 165 patients, CIA occurred in 72 patients (43.64%). In multivariate analysis, age older than 40 y (OR: 16.10, 95% CI: 6.34–40.88, P0.05). The rate of CIA in leucopenia group (52.56%) was significantly higher than that in normal leukocyte group (34.62%) (P = 0.024). In patients treated with a FEC regimen (cyclophosphamide, epirubicin and 5-fluorouracil), the rate of CIA in leucopenia group (59.57%) was significantly higher than that in normal leukocyte group (36.84%) (P = 0.037). Conclusions Age at diagnosis and previous childbearing were both found to significantly increase the risk of CIA, whereas additional taxane was not associated with increased rate of CIA. Importantly, leucopenia after first cycle of chemotherapy was associated with increased risk of CIA, which suggested that leucopenia may be an early predictor of chemotherapy-induced infertility. PMID:22615953

The risk of amenorrhea is related to chemotherapy-induced leucopenia in breast cancer patients receiving epirubicin and taxane based chemotherapy.

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Wenbin Zhou

Full Text Available BACKGROUND: Chemotherapy-induced amenorrhea (CIA is common in young breast cancer patients. The incidence of CIA associated with regimens involving epirubicin and taxane was not well known. Furthermore, previous studies suggested leucopenia and amenorrhea may reflect inter-individual variations in pharmacokinetics. The purpose of this study was to investigate the association between leucopenia after first cycle of chemotherapy and CIA in young breast cancer patients receiving epirubicin and taxane based chemotherapy. Furthermore, the incidence of CIA was also assessed. METHODOLOGY AND PRINCIPAL FINDINGS: Between October 2008 and March 2010, 186 consecutive premenopausal patients, treated with epirubicin and taxane based chemotherapy, were recruited. Information about CIA was collected by telephone and out-patient clinic. Of these 186 patients, data from 165 patients were included and analyzed. Of all 165 patients, CIA occurred in 72 patients (43.64%. In multivariate analysis, age older than 40 y (OR: 16.10, 95% CI: 6.34-40.88, P0.05. The rate of CIA in leucopenia group (52.56% was significantly higher than that in normal leukocyte group (34.62% (P = 0.024. In patients treated with a FEC regimen (cyclophosphamide, epirubicin and 5-fluorouracil, the rate of CIA in leucopenia group (59.57% was significantly higher than that in normal leukocyte group (36.84% (P = 0.037. CONCLUSIONS: Age at diagnosis and previous childbearing were both found to significantly increase the risk of CIA, whereas additional taxane was not associated with increased rate of CIA. Importantly, leucopenia after first cycle of chemotherapy was associated with increased risk of CIA, which suggested that leucopenia may be an early predictor of chemotherapy-induced infertility.

Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome

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Felipe P. Andrade

2012-10-01

Full Text Available MAIN FINDINGS: A 22-year-old woman with complete androgen insensitivity syndrome (CAIS presenting with primary amenorrhea and normal female external genitalia was referred for laparoscopic gonadectomy. She had been diagnosed several years earlier but was reluctant to undergo surgery. CASE HYPOTHESIS: Diagnosis of this X-linked recessive inherited syndrome characterizes by disturbance of virilization in males with an AR mutation, XY karyotipe, female genitalia and severely undescended testis with risk of malignization. The optimal time to orchidectomy is not settled; neither the real risk of malignancy in these patients. Early surgery impacts development of a complete female phenotype, with enlargement of the breasts. Based on modern diagnostic imaging using DCE-MRI and surgical technology with single port laparoscopic access we hypothesize that the optimum time for gonadectomy is not at the time of diagnosis, but once feminization has completed. PROMISING FUTURE IMPLICATIONS: An umbilical laparoendoscopic single-site access for bilateral gonadectomy appears to be the first choice approach as leaves no visible incision and diminishes the psychological impact of surgery in a patient with CAIS absolutely reassured as female. KeyPort, a single port access with duo-rotate instruments developed by Richard Wolf facilitates this surgery and allows excellent cosmetic results.

Short-term estriol administration modulates hypothalamo-pituitary function in patients with functional hypothalamic amenorrhea (FHA).

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Genazzani, Alessandro D; Podfigurna-Stopa, Agnieszka; Czyzyk, Adam; Katulski, Krzysztof; Prati, Alessia; Despini, Giulia; Angioni, Stefano; Simoncini, Tommaso; Meczekalski, Blazej

2016-01-01

To evaluate the influence of short-term estriol administration (10 d) on the hypothalamus-pituitary function and gonadotropins secretion in patients affected by functional hypothalamic amenorrhea (FHA). Controlled clinical study on patients with FHA (n = 12) in a clinical research environment. Hormonal determinations and gonadotropin (luteinizing hormone [LH] and FSH) response to a gonadotropin-releasing hormone (GnRH) bolus (10 μg) at baseline condition and after 10 d of therapy with 2 mg/d of estriol per os. Measurements of plasma LH, FSH, prolactin, estradiol, androstenedione, 17α-hydroxyprogesterone, insulin, cortisol, thyroid-stimulating hormone, free triiodothyronine, and free thyroxine. After treatment, the FHA patients showed a statistically significant increase of both LH and FSH plasma levels and the significant increase of their responses to the GnRH bolus. Estriol short-term therapy modulates within 10 d of administration the neuroendocrine control of the hypothalamus-pituitary unit and induces the recovery of both gonadotropins synthesis and secretion in hypogonadotropic patients with FHA.

Delayed presentation of turner syndrome: Challenge to optimal management

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Uma Kaimal Saikia

2017-01-01

Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

Primary radiotherapy of prolactinomas. Eight- to 15-year follow-up

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Mehta, A.E.; Reyes, F.I.; Faiman, C.

1987-07-01

Eight women with amenorrhea, galactorrhea, and hyperprolactinemia, of whom six had macroadenomas and two had microadenomas, were treated with conventional (cobalt-60) external radiotherapy, and their progress was monitored for eight to 15 years. Normoprolactinemia was established in five of these patients after two to 13 years (median, nine years). A recurrence was treated surgically in one patient, and stable prolactin values and roentgenographic features have been maintained in two patients. Hypopituitarism has developed in only one patient to date, and no other complications of radiotherapy have been observed. These findings, together with the few previous reports on the long-term effects of radiotherapy on macroprolactinomas, have been compared with the long-term results following surgery or dopamine agonist therapy. The normalization of prolactin values is considerably delayed following radiotherapy compared with the other two therapeutic modalities. However, radiotherapy affords permanent normalization without recurrence in a larger percentage of patients than does surgery and avoids the considerable ongoing cost and inconvenience of daily drug ingestion. The long-term development of hypopituitarism appears to be an acceptably small risk of radiotherapy. Thus, conventional radiotherapy is an attractive treatment option, particularly for macroprolactinomas; adjunctive bromocriptine can be used while awaiting the longer-term benefits of radiotherapy.

Primary radiotherapy of prolactinomas. Eight- to 15-year follow-up

International Nuclear Information System (INIS)

Mehta, A.E.; Reyes, F.I.; Faiman, C.

1987-01-01

Eight women with amenorrhea, galactorrhea, and hyperprolactinemia, of whom six had macroadenomas and two had microadenomas, were treated with conventional (cobalt-60) external radiotherapy, and their progress was monitored for eight to 15 years. Normoprolactinemia was established in five of these patients after two to 13 years (median, nine years). A recurrence was treated surgically in one patient, and stable prolactin values and roentgenographic features have been maintained in two patients. Hypopituitarism has developed in only one patient to date, and no other complications of radiotherapy have been observed. These findings, together with the few previous reports on the long-term effects of radiotherapy on macroprolactinomas, have been compared with the long-term results following surgery or dopamine agonist therapy. The normalization of prolactin values is considerably delayed following radiotherapy compared with the other two therapeutic modalities. However, radiotherapy affords permanent normalization without recurrence in a larger percentage of patients than does surgery and avoids the considerable ongoing cost and inconvenience of daily drug ingestion. The long-term development of hypopituitarism appears to be an acceptably small risk of radiotherapy. Thus, conventional radiotherapy is an attractive treatment option, particularly for macroprolactinomas; adjunctive bromocriptine can be used while awaiting the longer-term benefits of radiotherapy

Magnetic Resonance Evaluation of Müllerian Remnants in Mayer-Rokitansky-Küster-Hauser Syndrome

International Nuclear Information System (INIS)

Yoo, Roh-Eul; Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup

2013-01-01

To analyze magnetic resonance imaging (MRI) findings of Müllerian remnants in young females clinically suspected of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a primary amenorrhea workup. Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Müllerian remnants, vagina, ovaries, and associated findings. All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 ± 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. Typical Müllerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome

Magnetic Resonance Evaluation of Müllerian Remnants in Mayer-Rokitansky-Küster-Hauser Syndrome

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Yoo, Roh-Eul; Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup [Department of Radiology, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of)

2013-07-01

To analyze magnetic resonance imaging (MRI) findings of Müllerian remnants in young females clinically suspected of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a primary amenorrhea workup. Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Müllerian remnants, vagina, ovaries, and associated findings. All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 ± 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. Typical Müllerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.

Fracture risk is decreased in women with polycystic ovary syndrome

DEFF Research Database (Denmark)

Rubin, Katrine Hass; Glintborg, Dorte; Nybo, Mads

2016-01-01

Hyperandrogenism, obesity, and hyperinsulinemia may protect against osteoporosis, whereas amenorrhea, increased cortisol, and low growth hormone may be associated with higher fracture risk in polycystic ovary syndrome (PCOS). OBJECTIVE: To investigate fracture risk in PCOS. MATERIAL/METHODS: PCOS...... be greater in women who have not yet reached peak bone mass. Reduced participation in sports activities was probably not the reason for the reduced risk of fractures. This article is protected by copyright. All rights reserved....... Denmark: Women with PCOS and/or hirsutism were identified in the Danish National Patient Register (1995-2012). Each patient was assigned three age-matched controls on the index date of PCOS diagnosis. Individuals with a previous endocrine diagnosis were excluded. Within PCOS Denmark, we embedded a well......-characterized subcohort of patients, PCOS OUH, diagnosed with PCOS at Odense University Hospital (n = 1,217). We identified incident fractures by ICD-10 codes and used conditional Cox regression analysis to compare fracture risk. RESULTS: PCOS Denmark: 19,199 women with PCOS and 57,483 controls were included, mean age 30...

Skeletal status and body composition in young women with functional hypothalamic amenorrhea.

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Podfigurna-Stopa, Agnieszka; Pludowski, Pawel; Jaworski, Maciej; Lorenc, Roman; Genazzani, Andrea R; Meczekalski, Blazej

2012-04-01

Functional hypothalamic amenorrhea (FHA) related to hypoestrogenism and hormonal status may influence skeletal homeostasis and body composition. The study aimed to evaluate hormones concentrations, body composition and bone strength in FHA cases. Total body scans using DXA method (DPX-L, GE Lunar) were performed in a group of 27 women aged 21.8 years ± 3.9 with FHA related to weight loss. References of healthy control subjects were used to calculate Z-scores (age and gender matched), SD-scores (height and gender matched), and SDs-scores (weight and gender matched). Whole skeleton bone mineral content (TBBMC, g) and density (TBBMD, g/cm(2)), lumbar spine (L2-L4) bone mineral density (SBMD; g/cm(2)), lean body mass (LBM, g) and fat mass (FM, g) were investigated. Relative bone strength index was calculated as the TBBMC/LBM ratio. Serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, testosterone, and prolactin (PRL) concentrations were assayed to characterize hormonal profile of FHA cases. Hormonal evaluation in patients with FHA revealed significantly decreased serum concentrations of gonadotropins and estradiol. Serum LH concentrations were 1.47 ± 0.89 mIU/ml, FSH 4.44 ± 1.94 mIU/ml. Estradiol concentrations in serum were 27.08 ± 13.10 pg/ml. As evidenced by Z-scores, FHA cases had decreased SBMD, TBBMD and TBBMC Z-scores of -1.23 ± 0.90 (p < 0.0001), -0.72 ± 0.86 (p < 0.001), and -0.90 ± 1.40 (p < 0.01), respectively. Reduced FM, LBM and FM/LBM ratio Z-scores of -1.80 ± 2.28 (p < 0.001), -0.59 ± 1.49 (p < 0.05) and -0.74 ± 1.55 (p < 0.05), but not TBBMC/LBM Z-score of -0.54 ± 2.14 (ns) were noted in FHA cases compared with healthy control cases. TBBMC, TBBMD, TBBMC/LBM when BH- or BW-matched were normal as evidenced by SD-scores and SDs-scores. SBMD remained reduced when BH-matched (SD-score = -0.40 ± 0.86; p < 0.05) whereas FM and FM/LBM were lower

Adrenogenital syndrome: molecular mechanisms of development

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V.P. Pishak

2017-03-01

Full Text Available On the long multistage pathway of biosynthesis of steroid hormones from cholesterol to cortisol, testo­sterone and estradiol, due to mutations in genes, there is the deficiency of steroidogenesis enzymes in the adrenal glands: cholesterol desmolase, 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase, 21-hydroxylase, and enzymes of steroidogenesis in the testis: 17,20-desmolasis, 17β-hydroxystyrol dehydroreductase and others, as well as a complex of widespread congenital diseases of heterogeneous group with autosomal recessive type of inheritance — adrenogenital syndrome (AGS. Deficiency of any of these enzymes or transport proteins leads to partial or complete loss of their activity. Phenotypic manifestations of AGS are quite polymorphic: phenomenon of hypoadrenocorticism; violation of the nature and rates of sexual development; bilateral increasing of adrenal glands; hypercorticotropinemia sensitive to dexamethasone; oligo- or amenorrhea; anovulatory infertility, miscarriage in early pregnancy. Pathogenetic component of these signs is congenital disorder of steroidogenesis caused by 11β-hydroxylase deficiency and symptoms of androgen excess. In AGS, there are distinguished a phenotype and nonclassical forms of steroidogenesis enzyme deficiency. In most cases, both types of diseases occur in persons of both sexes with different course — from mild to severe forms of the disease.

Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

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Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

2016-10-01

Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

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Dragović Tamara

2016-01-01

Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy among patients with idiopathic and functional hypothalamic amenorrhea: a systematic review of the literature and a meta-analysis.

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Tranoulis, Anastasios; Laios, Alexandros; Pampanos, Andreas; Yannoukakos, Drakoulis; Loutradis, Dimitrios; Michala, Lina

2018-04-01

To systematically review and appraise the existing evidence in relation to the efficacy and safety of pulsatile gonadotropin-releasing hormone (pGnRH) for the treatment of women with hypothalamic amenorrhea (HA). Systematic review and meta-analysis. Not applicable. A total of 35 studies (three randomized and 32 observational) encompassing 1,002 women with HA. None. Primary outcomes: ovulation rate (OvR), pregnancy per ovulatory cycle rate (POR), and live birth per ovulatory cycle rate (LBOR). multiple gestation (MG), ovarian hyperstimulation syndrome (OHSS), and superficial thrombophlebitis (ST) rates. The summary measures were expressed as proportions and 95% confidence intervals (CI). Pulsatile GnRH treatment appears to achieve high OvRs. A trend toward high PORs and LBORs among women with HA is demonstrated. SC pGnRH achieves comparable OvR compared with IV pGnRH. The incidence of OHSS is low and of mild severity. Treatment with pGnRH is associated with low but slightly higher MG rates compared with the general population. IV administered pGnRH is rarely associated with ST. The high OvRs leading to a high rate of singleton pregnancies and the low likelihood of OHSS render the pGnRH treatment modality both effective and safe for the treatment of women with HA of either primary or secondary origin. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

New method for the induction of therapeutic amenorrhea: low dose endometrial afterloading irradiation. Clinical and hormonal studies

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Gronroos, M.; Turunen, T.; Raekallio, J.; Ruotsalinen, P.; Salmi, T. (Turku Univ. (Finland). Dept. of Obstetrics and Gynecology)

1982-08-01

The authors present a new method for the induction of therapeutic amenorrhea: low dose endometrial afterloading irradiation. The problem with this method has been how to inactivate the endometrium while maintaining the physiological function of the ovaries. In 5/29 young patients regular or irregular bleedings occurred after an endometrial dose of 11+-1 Gy. These subjects were given a repeat low dose intrauterine irradiation. Thereafter no bleedings were found in four out of five patients. Two to 9 years after the repeat irradiation the plasma levels of E/sub 1/, E/sub 2/, FSH and LH corresponded closely to those of healthy women in reproductive age in three out of five patients; some high plasma P levels indicated ovulation. In two patients the E/sub 1/, E/sub 2/, and P values were more likely postmenopausal but, on the other hand, FSH and LH values reproductive ones. 19 refs.

Low resting metabolic rate in exercise-associated amenorrhea is not due to a reduced proportion of highly active metabolic tissue compartments.

Science.gov (United States)

Koehler, Karsten; Williams, Nancy I; Mallinson, Rebecca J; Southmayd, Emily A; Allaway, Heather C M; De Souza, Mary Jane

2016-08-01

Exercising women with menstrual disturbances frequently display a low resting metabolic rate (RMR) when RMR is expressed relative to body size or lean mass. However, normalizing RMR for body size or lean mass does not account for potential differences in the size of tissue compartments with varying metabolic activities. To explore whether the apparent RMR suppression in women with exercise-associated amenorrhea is a consequence of a lower proportion of highly active metabolic tissue compartments or the result of metabolic adaptations related to energy conservation at the tissue level, RMR and metabolic tissue compartments were compared among exercising women with amenorrhea (AMEN; n = 42) and exercising women with eumenorrheic, ovulatory menstrual cycles (OV; n = 37). RMR was measured using indirect calorimetry and predicted from the size of metabolic tissue compartments as measured by dual-energy X-ray absorptiometry (DEXA). Measured RMR was lower than DEXA-predicted RMR in AMEN (1,215 ± 31 vs. 1,327 ± 18 kcal/day, P < 0.001) but not in OV (1,284 ± 24 vs. 1,252 ± 17, P = 0.16), resulting in a lower ratio of measured to DEXA-predicted RMR in AMEN (91 ± 2%) vs. OV (103 ± 2%, P < 0.001). AMEN displayed proportionally more residual mass (P < 0.001) and less adipose tissue (P = 0.003) compared with OV. A lower ratio of measured to DXA-predicted RMR was associated with lower serum total triiodothyronine (ρ = 0.38, P < 0.001) and leptin (ρ = 0.32, P = 0.004). Our findings suggest that RMR suppression in this population is not the result of a reduced size of highly active metabolic tissue compartments but is due to metabolic and endocrine adaptations at the tissue level that are indicative of energy conservation.

Psychopathological traits of adolescents with functional hypothalamic amenorrhea: a comparison with anorexia nervosa.

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Bomba, Monica; Corbetta, Fabiola; Bonini, Luisa; Gambera, Alessandro; Tremolizzo, Lucio; Neri, Francesca; Nacinovich, Renata

2014-03-01

Functional hypothalamic amenorrhea (FHA) is a form of anovulation, due to the suppression of hypothalamic-pituitary-ovarian axis, not related to identifiable organic causes. Like adolescents with anorexia nervosa (AN), subjects with FHA show dysfunctional attitudes, low self-esteem, depressive mood, anxiety and inability to cope with daily stress. The aim of the study is to examine similarities and differences between FHA and AN in terms of clinical profiles and psychological variables. 21 adolescents with FHA, 21 adolescents with anorexia nervosa, and 21 healthy adolescents were included in the study. All the teenagers completed a battery of self-administered psychological tests for the detection of behaviors and symptoms attributable to the presence of an eating disorder (EDI-2), depression (CDI), and alexithymia (TAS-20). Different from healthy controls, subjects with FHA and with AN shared common psychopathological aspects, such as maturity issues, social insecurity and introversion, a tendency to depression, excessive concerns with dieting, and fear of gaining weight. Nevertheless, adolescents with AN presented a more profound psychopathological disorder as observed at test comparisons with subjects with FHA. Results show a clinical spectrum that includes AN and FHA and suggest the necessity to treat FHA with a multidisciplinary approach for both organic and psychological aspects.

Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Letterie, G.S. [Virginia Mason Medical Center, Seattle, WA (United States)

1995-12-04

This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

Ileum neovaginoplasty for Mayer–Rokitansky–Küster–Hauser ...

African Journals Online (AJOL)

Objective: To review treatment modalities of Mayer–Rokitansky–Küster–Hauser syndrome, and to present further evidence on the successful use of ileum segment as an additional procedure for the creation of a neovagina. Methods: Five women presented with primary amenorrhea, normal secondary female sexual ...

Case Study

African Journals Online (AJOL)

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The medium- term evolution was marked by prolonged amenorrhea, fatigue and apathy. In the light of this clinical picture, Sheehan's syndrome was suspected and confirmed by a pituitary and cerebral MRI which showed an empty sella turcica (figure1). Hormone profiles including cortisol, plasma ACTH, thyroid hormones,.

Function and innervation of the locus ceruleus in a macaque model of Functional Hypothalamic Amenorrhea.

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Bethea, Cynthia L; Kim, Aaron; Cameron, Judy L

2013-02-01

A body of knowledge implicates an increase in output from the locus ceruleus (LC) during stress. We questioned the innervation and function of the LC in our macaque model of Functional Hypothalamic Amenorrhea, also known as Stress-Induced Amenorrhea. Cohorts of macaques were initially characterized as highly stress resilient (HSR) or stress-sensitive (SS) based upon the presence or absence of ovulation during a protocol involving 2 menstrual cycles with psychosocial and metabolic stress. Afterwards, the animals were rested until normal menstrual cycles resumed and then euthanized on day 5 of a new menstrual cycle [a] in the absence of further stress; or [b] after 5 days of resumed psychosocial and metabolic stress. In this study, parameters of the LC were examined in HSR and SS animals in the presence and absence of stress (2×2 block design) using ICC and image analysis. Tyrosine hydroxylase (TH) is the rate-limiting enzyme for the synthesis of catecholamines; and the TH level was used to assess by inference, NE output. The pixel area of TH-positive dendrites extending outside the medial border of the LC was significantly increased by stress to a similar degree in both HSR and SS animals (p<0.0001). There is a significant CRF innervation of the LC. The positive pixel area of CRF boutons, lateral to the LC, was higher in SS than HSR animals in the absence of stress. Five days of moderate stress significantly increased the CRF-positive bouton pixel area in the HSR group (p<0.02), but not in the SS group. There is also a significant serotonin innervation of the LC. A marked increase in medial serotonin dendrite swelling and beading was observed in the SS+stress group, which may be a consequence of excitotoxicity. The dendrite beading interfered with analysis of axonal boutons. However, at one anatomical level, the serotonin-positive bouton area was obtained between the LC and the superior cerebellar peduncle. Serotonin-positive bouton pixel area was significantly

An incidental coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome with pelvic ectopic kidney and perirenal endometrioma

International Nuclear Information System (INIS)

Balci, O.; Karatayli, R.; Capar, M.

2008-01-01

In this case report, Mayer-Rokitansky-Kuster-Hauser syndrome with pelvic ectopic kidney and a perirenal cyst with endometrial tissue inside is demonstrated. A 17 year old patient admitted with primary amenorrhea. Pubertal stages were completed. In pelvic ultrasonography; uterus could not be detected, a 6x11 cm sized cystic lesion was seen on the right adnexal area. A centrally located 5.5x9 cm sized ectopic pelvic kidney was detected. Hormones and tumor markers were normal. Laparoscopy was planned. In the laparoscopic observation, uterus and both tubes could not be detected, ovaries were normal. There was a 6x7 cm sized cyst located in the retroperitoneal area, the origin of cyst could not be identified. Laparatomy was considered, retroperitoneal space was entered, an 8x11 sized smooth contoured perirenal cyst adjacent to the pelvic kidney was detected. Cyst was extirpated. The pathology result was reported to include endometrial tissue and hemorrhage inside. (author)

A new method for the induction of therapeutic amenorrhea: low dose endometrial afterloading irradiation. Clinical and hormonal studies

International Nuclear Information System (INIS)

Gronroos, M.; Turunen, T.; Raekallio, J.; Ruotsalinen, P.; Salmi, T.

1982-01-01

The authors present a new method for the induction of therapeutic amenorrhea: low dose endometrial afterloading irradiation. The problem with this method has been how to inactivate the endometrium while maintaining the physiological function of the ovaries. In 5/29 young patients regular or irregular bleedings occurred after an endometrial dose of 11+-1 Gy. These subjects were given a repeat low dose intrauterine irradiation. Thereafter no bleedings were found in four out of five patients. Two to 9 years after the repeat irradiation the plasma levels of E 1 , E 2 , FSH and LH corresponded closely to those of healthy women in reproductive age in three out of five patients; some high plasma P levels indicated ovulation. In two patients the E 1 , E 2 , and P values were more likely postmenopausal but, on the other hand, FSH and LH values reproductive ones. (author)

Estriol administration modulates luteinizing hormone secretion in women with functional hypothalamic amenorrhea.

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Genazzani, Alessandro D; Meczekalski, Blazej; Podfigurna-Stopa, Agnieszka; Santagni, Susanna; Rattighieri, Erica; Ricchieri, Federica; Chierchia, Elisa; Simoncini, Tommaso

2012-02-01

To evaluate the influence of estriol administration on the hypothalamus-pituitary function and gonadotropins secretion in patients affected by functional hypothalamic amenorrhea (FHA). Controlled clinical study. Patients with FHA in a clinical research environment. Twelve hypogonadotropic patients affected by FHA. Pulsatility study of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), and a gonadotropin-releasing hormone (GnRH) test (10 μg in bolus) at baseline condition and after 8 weeks of therapy with 2 mg/day of estriol. Measurements of plasma LH, FSH, estradiol (E(2)), androstenedione (A), 17α-hydroxyprogesterone (17-OHP), cortisol, androstenedione (A), testosterone (T), thyroid-stimulating hormone (TSH), free triiodothyronine (fT(3)), free thyroxine (fT(4)), and insulin, and pulse detection. After treatment, the FHA patients showed a statistically significant increase of LH plasma levels (from 0.7 ± 0.1 mIU/mL to 3.5 ± 0.3 mIU/mL) and a statistically significant increase of LH pulse amplitude with no changes in LH pulse frequency. In addition, the LH response to the GnRH bolus was a statistically significant increase. Estriol administration induced the increase of LH plasma levels in FHA and improved GnRH-induced LH secretion. These findings suggest that estriol administration modulates the neuroendocrine control of the hypothalamus-pituitary unit and induces the recovery of LH synthesis and secretion in hypogonadotropic patients with FHA. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Persistent osteopenia in ballet dancers with amenorrhea and delayed menarche despite hormone therapy: a longitudinal study.

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Warren, Michelle P; Brooks-Gunn, Jeanne; Fox, Richard P; Holderness, Claire C; Hyle, Emily P; Hamilton, William G; Hamilton, Linda

2003-08-01

To investigate the role of estrogen deprivation and replacement in amenorrheic and nonamenorrheic dancers on hormone therapy and calcium. Clinical, placebo-controlled, randomized trial study.Healthy volunteers in an academic research environment. Fifty-five dancers (mean age: 22.0 +/- 4.6, age at menarche: 14.7 +/- 2.3 years), including 24 amenorrheics. Amenorrheics were randomized in a controlled trial to receive placebo or Premarin, 0.625 mg for 25 days monthly, with Provera, 10 mg, for 10 of these 25 days (hormone therapy) for 2 years. These women were compared to normally menstruating controls. The study participants also received 1250 mg of calcium per day. Bone mineral density (BMD) measured at the foot, wrist, and lumbar spine. Our overall results showed no difference in BMD between the treated or placebo groups, indicating that hormone therapy did not change or normalize BMD when compared to normals. Five patients (all on placebo) who resumed menses during the study showed an increase in BMD without normalization. These findings suggest that mechanisms other than hypoestrogenism may be involved with the osteopenia associated with exercise-induced amenorrhea.

Strategies to reverse bone loss in women with functional hypothalamic amenorrhea: a systematic review of the literature.

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Vescovi, J D; Jamal, S A; De Souza, M J

2008-04-01

Functional hypothalamic amenorrhea (FHA) impairs the attainment of peak bone mass and as such can increase the risk of fractures later in life. To document available treatment strategies, we conducted a systematic review of the literature. We report that hormonal therapies have limited effectiveness in increasing bone mass, whereas increased caloric intake resulting in weight gain and/or resumption of menses is an essential strategy for restoring bone mass in women with FHA. Women with functional hypothalamic amenorrhea (FHA) may not achieve peak bone mass (PBM), which increases the risk of stress fractures, and may increase the risk of osteoporotic fractures in later life. To identify effective treatment strategies for women with FHA, we conducted a systematic review of the literature. We included randomized controlled trials (RCTs), cross-sectional studies, and case studies that reported on the effects of pharmacological and non-pharmacological interventions on bone mineral density (BMD) or bone turnover in women with FHA. Most published studies (n=26) were designed to treat the hormonal abnormalities observed in women with FHA (such as low estrogen, leptin, insulin-like growth factor-1, and DHEA); however none of these treatments demonstrated consistent improvements in BMD. Therapies containing an estrogen given for 8-24 months resulted in variable improvements (1.0-19.0%) in BMD, but failed to restore bone mass to that of age-matched controls. Three studies reported on the use of bisphosphonates (3-12 months) in anorexic women, which appear to have limited effectiveness to improve BMD compared to nutritional treatments. Another three investigations showed no improvements in BMD after androgen therapy (DHEA and testosterone) in anorexic women. In contrast, reports (n=9) describing an increase in caloric intake that results in weight gain and/or the resumption of menses reported a 1.1-16.9% increase in BMD concomitant with an improvement in bone formation and

Amenorrhea secondary to a vismodegib-induced blockade of follicle-stimulating hormone-receptor activation.

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Strasswimmer, John; Latimer, Benjamin; Ory, Steven

2014-08-01

To report a novel mechanism suggestive of early ovarian failure secondary to the anti-tumor hedgehog-pathway inhibitor vismodegib. Case report and literature review. Academic and private dermatology and fertility practices. A 34-year-old nulliparous woman with locally advanced basal cell carcinomas who became amenorrheic while receiving oral therapy with vismodegib. Physical examination and endocrine evaluation. Elevated follicle-stimulating hormone (FSH) and low estrogen in the setting of a normal anti-Müllerian hormone. FSH was elevated; estrogen was low. Preantral follicles were detected and anti-Müllerian hormone activity was normal. Menses resumed 5 weeks after cessation of therapy. Vismodegib, a first-in-class inhibitor of the hedgehog signaling pathway is indicated for advanced basal cell carcinoma and is associated with amenorrhea. The mechanism is unknown; it has some features of ovarian failure but preserves ovarian potential through blockading of FSH-receptor-dependent signal transduction. This effect appears to be rapidly reversible upon cessation of therapy. Vismodegib and related compounds may have potential for a role in intervention for gynecologic and endocrine disorders and in therapy for other issues involving FSH-dependent function. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

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Silva Daniela M

2011-09-01

Full Text Available Abstract Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the testes and penis in male fetuses, and are directed by the testicular determining factor: the gene SRY (sex determining region on Y chromosome located on the short arm of chromosome Y. The differentiation of male external genitalia (penis, scrotum and penile urethra occurs between the 9th and 13th weeks of pregnancy and requires adequate concentration of testosterone and the conversion of this to another more potent androgen, dihydrotestosterone, through the action of 5α-reductase in target tissues. Case presentation This report describes the case of a teenage girl presenting with a male karyotype, and aims to determine the extension of the mutation that affected the AR gene. A Caucasian girl aged 15 was referred to our laboratory for genetic testing due to primary amenorrhea. Physical examination, karyotype testing and molecular analysis of the androgen receptor were critical in making the correct diagnosis of complete androgen insensitivity syndrome. Conclusions Sex determination and differentiation depend on a cascade of events that begins with the establishment of chromosomal sex at fertilization and ends with sexual maturation at puberty, subsequently leading to fertility. Mutations affecting the AR gene may cause either complete or partial androgen insensitivity syndrome. The case reported here is consistent with complete androgen insensitivity syndrome, misdiagnosed at birth, and consequently our patient was raised both socially and educationally as a female. It is critical that health care providers understand the importance of properly diagnosing a newborn manifesting ambiguous genitalia. Furthermore, a child with a pseudohermaphrodite phenotype should always undergo adequate

Neocentric X-chromosome in a girl with Turner-like syndrome

Directory of Open Access Journals (Sweden)

Hemmat Morteza

2012-06-01

Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.

A review of endocrine changes in anorexia nervosa

DEFF Research Database (Denmark)

Støving, R K; Hangaard, J; Hansen-Nord, M

1999-01-01

Anorexia nervosa is a syndrome of unknown etiology. It is associated with multiple endocrine abnormalities. Hypothalamic monoamines (especially serotonin), neuropeptides (especially neuropeptide Y and cholecystokinin) and leptin are involved in the regulation of human appetite, and in several ways...... they are changed in anorexia nervosa. However, it remains to be clarified whether the altered appetite regulation is secondary or etiologic. Increased secretion of corticotropin-releasing hormone and proopiomelanocortin seems to be secondary to starvation, however, there is evidence that it may maintain...... and intensify anorexia, excessive physical activity and amenorrhea. Hypothalamic amenorrhea, which is a diagnostic criterion in anorexia nervosa, is not solely related to the low body weight and exercise. Growth hormone resistance with low production of insulin-like growth factor I and high growth hormone...

Increased cortisol in the cerebrospinal fluid of women with functional hypothalamic amenorrhea.

Science.gov (United States)

Brundu, Benedetta; Loucks, Tammy L; Adler, Lauri J; Cameron, Judy L; Berga, Sarah L

2006-04-01

The proximate cause of functional hypothalamic amenorrhea (FHA) is reduced GnRH drive. The concomitant increase in circulating cortisol suggests that psychogenic stress plays an etiologic role, but others have argued for a strictly metabolic cause, such as undernutrition or excessive exercise. Indeed, our finding that the cerebrospinal fluid (CSF) concentration of CRH was not elevated in FHA cast doubt about the extent of hypothalamic-pituitary-adrenal activation in FHA and, therefore, we wondered whether central cortisol levels were elevated. We tested the null hypothesis that CSF cortisol levels would be comparable in FHA and eumenorrheic women (EW). The study is a cross-sectional comparison. The study was set in a general clinical research center at an academic medical center. Fifteen women with FHA who were of normal body weight and 14 EW participated. Blood samples were collected at 15-min intervals for 24 h, followed by procurement of 25 ml CSF. Cortisol, cortisol-binding globulin (CBG), and SHBG levels in blood and CSF were the main outcome measures. CSF cortisol concentrations were 30% greater when serum cortisol was 16% higher in FHA compared with EW. Circulating CBG, but not SHBG, was increased in FHA and, thus, the circulating free cortisol index was similar in FHA and EW. Because CBG and SHBG were nil in CSF, the increase in CSF cortisol in FHA was unbound. The hypothalamic-pituitary-adrenal axis is activated in FHA. The maintenance of CRH drive despite increased CSF cortisol indicates resistance to cortisol feedback inhibition. The mechanisms mediating feedback resistance likely involve altered hippocampal corticosteroid reception and serotonergic and GABAergic neuromodulation.

Polycystic ovarian disease unmasked by pulsatile GnRH therapy in a subgroup of women with hypothalamic amenorrhea.

Science.gov (United States)

Mattle, Verena; Bilgyicildirim, Aysen; Hadziomerovic, Dijana; Ott, Helmut W; Zervomanolakis, Ioannis; Leyendecker, Gerhard; Wildt, Ludwig

2008-02-01

To present the observation in six out of 120 women treated with pulsatile GnRH for ovulation induction, who developed hyperandrogenemia and polycystic ovaries during treatment. Clinical observation. Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University of Innsbruck, Austria. A total of 120 women initially diagnosed as suffering from primary or secondary hypothalamic amenorrhea were treated for ovulation induction with pulsatile administration of GnRH for up to 140 days. There was no indication of the presence of polycystic ovaries or hyperandrogenemia before therapy. Pulsatile GnRH therapy using the Zyklomat pump. Ovulatory menstrual cycles. Initially, all patients responded to pulsatile GnRH administration with ovulation and corpus luteum formation. During continuation of treatment, 6 patients developed an increase in LH and LH/FSH ratio as well as a progressive rise in serum T levels resulting in hyperandrogenemia. This was accompanied by the development of polycystic ovaries and cessation of follicular maturation. We conclude from these observations that restoration of normal GnRH stimulation of the pituitary gland can result in the development of hyperandrogenemia and polycystic ovaries, suggesting a pituitary or ovarian defect underlying the pathogenesis of this disorder.

Effects of a triphasic combination oral contraceptive containing norgestimate/ethinyl estradiol on biochemical markers of bone metabolism in young women with osteopenia secondary to hypothalamic amenorrhea.

Science.gov (United States)

Grinspoon, S K; Friedman, A J; Miller, K K; Lippman, J; Olson, W H; Warren, M P

2003-08-01

This multicenter, double-blind, placebo-controlled, randomized study of 45 patients evaluated the short-term effects of an oral contraceptive [Ortho Tri-Cyclen, 180-250 micro g of norgestimate (NGM) and 35 microg of ethinyl estradiol (EE)] on biochemical markers of bone resorption, formation, and osteoprotegerin in young women (mean age +/- SD, 26.5 +/- 6.3 yr) with hypothalamic amenorrhea and osteopenia. Body fat, endocrine, and cognitive function were evaluated as secondary endpoints. Biomarkers of bone metabolism were measured at baseline and after three cycles of NGM/EE or placebo. There were significant decreases in mean values of N-telopeptide [mean (SD), -13.4 (13.4) vs. 1.2 (23.8) nmol bone collagen equivalents (BCE)/mmol creatinine (Cr); P = 0.001] and deoxypyridinoline [-1.2 (2.9) vs. -0.5 (1.5) nmol deoxypyridinoline/mmol Cr; P = 0.021] as well as significant decreases in bone specific alkaline phosphatase [-5.1 (3.5) vs. 0.4 (3.1) ng/ml; P < 0.001], osteocalcin [-5.9 (3.6) vs. -2.9 (3.7); P = 0.016], and procollagen of type I propeptide [-35.2 (44.6) vs. -0.2 (30.0) ng/ml; P = 0.025], but not osteoprotegerin [0.39 (1.46) vs. -0.2 (0.49) pmol/liter; P = 0.397] in the NGM/EE vs. placebo group. There were no significant differences between groups with respect to changes in cognitive function, mood, body weight, body mass index, body fat, percentage of body fat, and all endocrine levels except FSH, [-3.7 (3.8) vs. -0.6 (2.1) IU/liter; P < 0.001, NGM/EE vs. placebo]. No serious adverse events were reported in either group. These results suggest that NGM/EE decreases bone turnover in osteopenic premenopausal women with hypothalamic amenorrhea. Further studies are needed to determine whether estrogen will increase bone density in this population.

Neuroendocrine abnormalities in hypothalamic amenorrhea: spectrum, stability, and response to neurotransmitter modulation.

Science.gov (United States)

Perkins, R B; Hall, J E; Martin, K A

1999-06-01

To characterize the neuroendocrine patterns of abnormal GnRH secretion in hypothalamic amenorrhea (HA), 49 women with primary and secondary HA underwent frequent sampling of LH in a total of 72 baseline studies over 12-24 h. A subset of women participated in more than one study to address 1) the variability of LH pulse patterns over time; and 2) the impact of modulating opioid, dopaminergic, and adrenergic tone on LH secretory patterns. The frequency and amplitude of LH secretion was compared with that seen in the early follicular phase (EFP) of normally cycling women. The spectrum of abnormalities of LH pulses was 8% apulsatile, 27% low frequency/low amplitude, 8% low amplitude/normal frequency, 43% low frequency/normal amplitude, 14% normal frequency/normal amplitude. Of patients studied overnight, 45% demonstrated a pubertal pattern of augmented LH secretion during sleep. Of patients studied repeatedly, 75% demonstrated at least 2 different patterns of LH secretion, and 33% reverted at least once to a normal pattern of secretion. An increase in LH pulse frequency was seen in 12 of 15 subjects in response to naloxone (opioid receptor antagonist). Clonidine (alpha-2 adrenergic agonist) was associated with a decrease in mean LH in 3 of 3 subjects. An increase in LH pulse frequency was seen in 4 of 8 subjects in response to metoclopramide (dopamine receptor antagonist), but the response was not statistically significant. Baseline abnormalities in LH secretion did not appear to influence response to neurotransmitter modulation. 1) HA represents a spectrum of disordered GnRH secretion that can vary over time; 2) LH pulse patterns at baseline do not appear to influence the ability to respond to neurotransmitter modulation; 3) Opioid and adrenergic tone appear to influence the hypothalamic GnRH pulse generator in some individuals with HA.

[Comparisons of prevalence and clinical and environmental characteristics between Tibetan and Han Women with polycystic ovarian syndrome in Tibetan Plateau].

Science.gov (United States)

Zhai, K L; Zhuo, G; Chi, H B; Lan, Z

2017-10-10

Objective: By the preliminary comparison study on the constituent ratio and clinical characteristics of polycystic ovary syndrome (PCOS) in Tibetan and Han women in Tibetan Plateau, we aimed to find the relevance of its pathogenic factors, and to guide the treatment of PCOS in the plateau region and improve the prognosis. Methods: The general situation and clinical data of 165 patients who were diagnosed with PCOS from December 1, 2015 to November 30, 2016 in the Department of Obstetrics and Gynecology of the People's Hospital of Tibet Autonomous Region were analyzed retrospectively. The prevalence of PCOS among Tibetan and Han women in Tibetan Plateau were compared. Results: (1) A total of 1 520 patients were treated in the Tibet Autonomous Region People's Hospital gynecological endocrinology clinics in one year (Tibetan 865 cases, Han 617 cases, other ethnic groups 38 cases), of which patients with PCOS accounted for 10.9% (165/1520). (2) The incidence of Tibetan PCOS patients with oligomenorrhea, infertility, amenorrhea, acne, hairy, LH/FSH inverted, overweight (BMI≥24), and waist circumference >80 cm were 21.2% (35/165), 20.6% (34/165), 16.4% (27/165), 28.5% (47/165), 17% (28/165), 38.2% (63/165), 23.6% (39/165), and 36.4% (60/165), respectively. The incidence of Han PCOS patients with oligomenorrhea, infertility, amenorrhea, acne, hairy, LH/FSH inverted, overweight (BMI≥24), and waist circumference >80 cm were 7.9% (13/165), 10.3% (17/165), 9.1% (15/165), 15.2% (25/165), 9.7% (16/165), 14.5% (24/165), 10.9% (18/165) and 19.4% (32/165), respectively. The proportion of high testosterone in Tibetan PCOS patients was higher than that in Han PCOS patients with statistically significant. (3) The chief complaint of Tibetan PCOS patients were oligomenorrhea and infertility, and the chief complaint of Han PCOS patients were infertility and amenorrhea. (4) The constituent ratio of outpatient clinics in Nyingchi who were with PCOS at an average elevation of about 3

[Hypertension during pregnancy: Epidemiology, definition].

Science.gov (United States)

Fauvel, Jean-Pierre

2016-01-01

Hypertension in pregnancy has several forms that differ by their mechanisms and their consequences for mothers and fetus. Chronic hypertension is defined by SBP≥140mm Hg or DBP≥90mm Hg before pregnancy or before the 20th week of amenorrhea. Gestational hypertension is defined by SBP≥140mm Hg or DBP≥90mm Hg during or after the 20th week of amenorrhea. Preeclampsia is the occurrence of hypertension and proteinuria after 20weeks of amenorrhea. Severe preeclampsia is accompanied by clinical signs and symptoms indicating visceral pain. The HELLP syndrome is a severe preeclampsia accompanied by intravascular hemolysis and hepatic cytolysis. Eclampsia is characterized by seizures of the tonic-clonic type. A chronic hypertension is observed in 1-5% of pregnancies. Gestational hypertension without proteinuria appears in 5-6% of pregnancies. A preeclampsia develops in 1-2% of pregnancies, but much more frequently (up 34%) in the presence of risk factors. High blood pressure during pregnancy remains, by its complications, the leading cause of maternal morbidity and mortality. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Morphological and molecular variations induce mitochondrial dysfunction as a possible underlying mechanism of athletic amenorrhea.

Science.gov (United States)

Xiong, Ruo-Hong; Wen, Shi-Lei; Wang, Qiang; Zhou, Hong-Ying; Feng, Shi

2018-01-01

Female athletes may experience difficulties in achieving pregnancy due to athletic amenorrhea (AA); however, the underlying mechanisms of AA remain unknown. The present study focuses on the mitochondrial alteration and its function in detecting the possible mechanism of AA. An AA rat model was established by excessive swimming. Hematoxylin and eosin staining, and transmission electron microscopic methods were performed to evaluate the morphological changes of the ovary, immunohistochemical examinations and radioimmunoassays were used to detect the reproductive hormones and corresponding receptors. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was used to test the mtDNA copy number. PCR and western blot analysis were used to test the expression of ND2. The change of morphological features of the rat ovaries revealed evident abnormalities. Particularly, the features of the mitochondria were markedly altered. In addition, reproductive hormones in the serum and tissues of AA rats were also detected to evaluate the function of the ovaries, and the levels of these hormones were significantly decreased. Furthermore, the mitochondrial DNA copy number (mtDNA) and expression of NADH dehydrogenase subunit 2 (ND2) were quantitated by qPCR or western blot analysis. Accordingly, the mtDNA copy number and expression of ND2 expression were markedly reduced in the AA rats. In conclusion, mitochondrial dysfunction in AA may affect the cellular energy supply and, therefore, result in dysfunction of the ovary. Thus, mitochondrial dysfunction may be considered as a possible underlying mechanism for the occurrence of AA.

Clinical and Biochemical Characteristics of Polycystic Ovary Syndrome in Benghazi- Libya: A Retrospective study

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Elmehdawi RR

2008-01-01

Full Text Available Background: Polycystic ovary syndrome (PCOS is a common endocrine condition affecting women of reproductive age and characterized by chronic anovulation, hyperandrogenism, and polycystic ovaries. There are no published data on this syndrome in Libyan patients. Aims and objectives: To assess the frequency of clinical and biochemical features of PCOS in our patient population, and to compare this with data collected in other parts of the world. Subjects and methods: A retrospective analysis of patient records at the endocrine clinic in Benghazi was undertaken. Patient inclusion was according to Rotterdam ESHRE/ASRM criteria. Clinical features, associated diseases, family history, hormone levels, and ultrasonography results were analyzed. Results: The mean age of the 318 PCOS patients at presentation was 25.8 years (range 15-44 years, and the majority (67% were 20-29 years old at presentation. Of all patients, 57% were obese (BMI ≥ 30, 93% had oligo- / amenorrhea, 91% were hirsute, and 74% had ultrasound features of polycystic ovaries. Diabetes mellitus was diagnosed in 9% of all PCOS patients and hypertension in 4%. Total serum testosterone was elevated in 26% of the patients, and serum prolactin was elevated in 31%. Thyroid disease was noted among 5.3% of the patients, and a history of diabetes or hypertension among first-degree relatives was seen in (16% and (8% of the patients respectively. Conclusion: Chronic anovulation and hirsutism are the dominant features of PCOS in our patient population. More than half were obese, and the prevalence of diabetes, hypertension and thyroid disease in our patients seemed to be underestimated in comparison to other parts of the world.

Diagnosis of Polycystic Ovary Syndrome: AMH in combination with clinical symptoms.

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Sahmay, Sezai; Aydin, Yavuz; Oncul, Mahmut; Senturk, Levent M

2014-02-01

We assessed the utility of using anti-Müllerian hormone (AMH) and clinical features of polycystic ovary syndrome (PCOS), polycystic ovarian morphology (PCOM), oligo/amenorrhea (OA), and hyperandrogenism (HA) for diagnosing PCOS, and compared their diagnostic accuracy with those of classical diagnostic systems. A total of 606 females were admitted to a university hospital with menstrual irregularities or symptoms of hyperandrogenism were enrolled in this cross-sectional study. Fasting blood samples were collected. Pelvic and/or abdominal ultrasonography and clinical examination were performed. Patients were evaluated for the presence of PCOS according to conventional diagnostic criteria. The diagnostic performance of using serum AMH levels alone and in various combinations with the clinical features of PCOM, OA, and HA were investigated. For the diagnosis of PCOS, the combination of OA and/or HA with AMH showed 83% sensitivity and 100% specificity according to the Rotterdam criteria; 83% sensitivity and 89% specificity according to the National Institutes of Health (NIH) criteria; and 82% sensitivity and 93.5% specificity according to the Androgen Excess Society (AES) criteria. The serum AMH level is a useful diagnostic marker for PCOS and is correlated with conventional diagnostic criteria. The combination of AMH level with OA and/or HA markedly increased the clinical scope for PCOS diagnosis and can be introduced as a possible objective criterion for the diagnosis of this disease.

Endocrinological-radiological aspects of galactorrhea

International Nuclear Information System (INIS)

Muehlenstedt, D.; Boettcher, H.D.; Osmers, F.; Muenster Univ.

1983-01-01

The extrapuerperal secretion of the mammary glands is not a pathological image sui generis, but principally a symptom of a different disease to be detected. On the one hand this procedure must consider differential-diagnostic assessments of the endocrinium and primarily consider disorders of the prolactine metabolism or release. On the other hand, morphologic intraductal processes must be excluded by means of concerted X-ray diagnostics. A clearly defined diagnostic programme permits the concerted treatment of mammary gland secretion according to the causes. Only the systematic progress of the examination offers a sufficient degree of security that fundamental pathologic findings as pituitary adenomas or intraductal carcinomas are not overlooked. (orig.) [de

Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review

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Fabrícia Torres Gonçalves

Full Text Available CONTEXT: Carney complex (CNC, a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (PPNAD, is an uncommon cause of adrenocorticotropic hormone-independent Cushing's syndrome. CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. Following the diagnosing of CNC and PPNAD, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. Screening was also performed for other tumors related to this syndrome. The diagnostic criteria, screening and follow-up for patients and affected family members are discussed.

Functional hypothalamic amenorrhea due to increased CRH tone in melanocortin receptor 2-deficient mice.

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Matsuwaki, Takashi; Nishihara, Masugi; Sato, Tsuyoshi; Yoda, Tetsuya; Iwakura, Yoichiro; Chida, Dai

2010-11-01

Exposure to chronic stressors results in dysregulation of the hypothalamic-pituitary-adrenal axis and a disruption in reproduction. CRH, the principal regulator of the hypothalamic-pituitary-adrenal axis induces the secretion of ACTH from the pituitary, which stimulates adrenal steroidogenesis via the specific cell-surface melanocortin 2 receptor (MC2R). Previously, we demonstrated that MC2R(-/-) mice had undetectable levels of corticosterone despite high ACTH levels. Here, we evaluated the reproductive functions of female MC2R(-/-) mice and analyzed the mechanism of the disrupted cyclicity of these mice. The expression of CRH in the paraventricular nucleus was significantly increased in MC2R(-/-) mice under nonstressed conditions. Although MC2R(-/-) females were fertile, they showed a prolonged estrous cycle. After hormonal stimulation, MC2R(-/-) females produced nearly-normal numbers of eggs, but slightly less than MC2R(+/-) females, and showed near-normal ovarian histology. During diestrus, the number of GnRH-positive cells in the medial preoptic area was significantly reduced in MC2R(-/-) females. CRH type 1 receptor antagonist restored estrous cyclicity in MC2R(-/-) females. Kisspeptin-positive areas in the arcuate nucleus were comparable, whereas kisspeptin-positive areas in the anteroventral periventricular nucleus in MC2R(-/-) females were significantly reduced compared with MC2R(+/-) females, suggesting that arcuate nucleus kisspeptin is not involved, but anteroventral periventricular nucleus kisspeptin may be involved, in the maintenance of estrous cyclicity. Our findings show that high levels of hypothalamic CRH disturb estrous cyclicity in the female animals and that the MC2R(-/-) female is a unique animal model of functional hypothalamic amenorrhea.

Bone mineral density in girls with functional hypothalamic amenorrhea subjected to estroprogestagen treatment--a 4-year prospective study.

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Sowińska-Przepiera, Elżbieta; Chełstowski, Kornel; Friebe, Zbigniew; Syrenicz, Anhelli

2011-11-01

The aim of this study was to evaluate the effects of 4-year estroprogestagen therapy (EP) on the bone mineral density (BMD) of 16- to 17-year-old girls with functional hypothalamic amenorrhea (FHA, n = 78). Baseline values of hormonal parameters, bone fraction of alkaline phosphatase (BALP), and cross-linked n-telopeptide of type I collagen (Ntx) were taken along with BMD measurements. Follow-up measurements of laboratory parameters were performed after 6 months of EP treatment. BMD was measured on a yearly basis. Six-month treatment resulted in a marked increase in estradiol levels and a significant decrease in BALP and Ntx. The relative increase in BMD was highest after the second year of treatment. Based on the dynamics of BMD changes during the first year of treatment, we identified a subgroup with no or insignificant reactions to the treatment. It was characterized by significantly higher baseline BMD and markedly lower baseline Ntx compared to the patients who responded to 1-year therapy well or extremely well. Further follow-up proved, however, that this subgroup did not differ significantly in terms of the long-term prognosis for BMD normalization. In conclusion, this study showed that EP therapy is effective in the treatment of BMD disorders associated with FHA.

Neuroendocrine recovery initiated by cognitive behavioral therapy in women with functional hypothalamic amenorrhea: a randomized, controlled trial.

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Michopoulos, Vasiliki; Mancini, Fulvia; Loucks, Tammy L; Berga, Sarah L

2013-06-01

To determine whether cognitive behavior therapy (CBT), which we had shown in a previous study to restore ovarian function in women with functional hypothalamic amenorrhea (FHA), could also ameliorate hypercortisolemia and improve other neuroendocrine and metabolic concomitants of in FHA. Randomized controlled trial. Clinical research center at an academic medical university. Seventeen women with FHA were randomized either to CBT or observation. CBT versus observation. Circulatory concentrations of cortisol, leptin, thyroid-stimulating hormone (TSH), total and free thyronine (T(3)), and total and free thyroxine (T(4)) before and immediately after completion of CBT or observation. (Each woman served as her own control.) Cognitive behavior therapy but not observation reduced cortisol levels in women with FHA. There were no changes in cortisol, leptin, TSH, T(3), or T(4) levels in women randomized to observation. Women treated with CBT showed increased levels of leptin and TSH, but their levels of T(3) and T(4) remained unchanged. In women with FHA, CBT ameliorated hypercortisolism and improved the neuroendocrine and metabolic concomitants of FHA while observation did not. We conclude that a cognitive, nonpharmacologic approach aimed at alleviating problematic attitudes not only can restore ovarian activity but also improve neuroendocrine and metabolic function in women with FHA. NCT01674426. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Anti-Mullerian hormone levels do not predict response to pulsatile GnRH in women with hypothalamic amenorrhea.

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Billington, Emma O; Corenblum, Bernard

2016-09-01

Pulsatile GnRH is used to induce ovulation in women with hypothalamic amenorrhea (HA), but tools to predict response are lacking. We assessed whether baseline AMH levels are associated with response to pulsatile GnRH in 16 women with HA. AMH levels were compared between non-responders and women who achieved follicular development or pregnancy. Median AMH for the cohort was 2.2 ng/mL. AMH levels were undetectable or low in four women, normal in nine and high in three. Follicular development was observed in 13 (81%) women (82% of cycles) and pregnancy achieved in 10 (63%) women (29% of cycles). All four women with low or undetectable AMH had follicular response and three achieved pregnancy. Of the 12 women with normal or high AMH, 10 had a follicular response and seven achieved pregnancy. Median AMH levels were comparable in those who achieved follicular development and those who did not (2.2 ng/mL versus 1.3 ng/mL, p = 0.78) and in those who became pregnant and those who did not (2.2 ng/mL versus 1.9 ng/mL, p = 0.52). In summary, low AMH does not preclude response to ovulation induction in women with HA, suggesting that ovarian potential may not be the primary determinant of AMH concentrations in this population.

Incidence of chemotherapy-induced amenorrhea associated with epirubicin, docetaxel and navelbine in younger breast cancer patients

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2010-01-01

Background The rates of chemotherapy-induced amenorrhea (CIA) associated with docetaxel-based regimens reported by previous studies are discordant. For navelbine-based chemotherapies, rates of CIA have seldom been reported. Methods Of 170 premenopausal patients recruited between January 2003 and September 2008, 78 were treated with fluorouracil plus epirubicin and cyclophosphamide (FEC), 66 were treated with docetaxel plus epirubicin (TE), and 26 were treated with navelbine plus epirubicin (NE). Patient follow-up was carried up every 3-4 months during the first year, then every 9-12 months during subsequent years. Results In univariate analysis, the rates of CIA were 44.87% for the FEC regimen, 30.30% for the TE regimen and 23.08% for the NE regimen (P = 0.068). Significant differences in the rates of CIA were not found between the FEC and TE treatment groups (P > 0.05), but were found between the FEC and NE treatment groups (P 0.05). Tamoxifen use was a significant predictor for CIA (P = 0.001), and age was also a significant predictor (P < 0.001). In multivariate analysis, age (P < 0.001), the type of chemotherapy regimens (P = 0.009) and tamoxifen use (P = 0.003) were all significant predictors. Conclusions Age and administration of tamoxifen were found to be significant predictive factors of CIA, whereas docetaxel and navelbine based regimens were not associated with higher rates of CIA than epirubicin-based regimen. PMID:20540745

Twice-weekly administration of kisspeptin-54 for 8 weeks stimulates release of reproductive hormones in women with hypothalamic amenorrhea.

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Jayasena, C N; Nijher, G M K; Abbara, A; Murphy, K G; Lim, A; Patel, D; Mehta, A; Todd, C; Donaldson, M; Trew, G H; Ghatei, M A; Bloom, S R; Dhillo, W S

2010-12-01

Kisspeptin is a novel therapeutic target for infertility. A single kisspeptin-54 (KP-54) injection acutely stimulates the release of reproductive hormones in women with hypothalamic amenorrhea (HA), a commonly occurring condition characterized by absence of menstruation; however, twice-daily administration of KP-54 results in tachyphylaxis. We determined the time course of desensitization to twice-daily KP-54 injections, compared the effects of twice-daily and twice-weekly administration regimens of KP-54, and studied the effects of long-term twice-weekly administration of KP-54 on the release of reproductive hormones in women with HA. When KP-54 was administered twice daily, responsiveness to luteinizing hormone (LH) diminished gradually, whereas responsiveness to follicle-stimulating hormone (FSH) was nearly abolished by day 2. Twice-weekly KP-54 administration resulted in only partial desensitization, in contrast to the complete tolerance achieved with twice-daily administration. Women with HA who were treated with twice-weekly KP-54 injections had significantly elevated levels of reproductive hormones after 8 weeks as compared with treatment with saline. No adverse effects were observed. This study provides novel pharmacological data on the effects of KP-54 on the release of reproductive hormones in women with HA.

Prognostic impact of chemotherapy-induced amenorrhea on premenopausal breast cancer: a meta-analysis of the literature

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Zhou, Qiong; Yin, Wenjin; Du, Yueyao; Shen, Zhenzhou; Lu, Jingsong

2015-01-01

Abstract Objective: We conducted this meta-analysis of published data to assess the exact prognostic value of adjuvant chemotherapy-induced amenorrhea (CIA) as a prognostic factor for premenopausal breast cancer. Methods: We searched for all relevant studies published before May 2014 in the PubMed, OVID, and EMBASE databases. Relative risks (RRs) were used to estimate the association between CIA and various survival outcomes, including disease-free survival (DFS) and overall survival (OS). Results: This meta-analysis identified 13 eligible studies including 5,513 cases and 2,008 controls for DFS and 5 eligible studies including 2,331 cases and 776 controls for OS. Results demonstrated that CIA is associated with improved DFS (RR, 0.67; 95% CI, 0.61-0.74; P < 0.001) and OS (RR, 0.60; 95% CI, 0.50-0.72; P < 0.001). In subgroup analyses, CIA was found to affect DFS (RR, 0.73; 95% CI, 0.61-0.88; P = 0.001) in estrogen receptor (ER)–positive patients; however, similar results were not observed in ER-negative patients (for DFS: RR, 0.97; 95% CI, 0.66-1.41; P = 0.858). Participants with CIA achieved a significantly better prognosis than participants without CIA, irrespective of nodal status, chemotherapy regimen, endocrine therapy, or publication year. Conclusions: This meta-analysis clarifies that CIA contributes to improved prognosis in premenopausal women with ER-positive breast cancer and is at least partially responsible for the benefits of adjuvant chemotherapy in these women, which induce chemical castration. PMID:25783467

Hypercortisolemia is associated with severity of bone loss and depression in hypothalamic amenorrhea and anorexia nervosa.

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Lawson, Elizabeth A; Donoho, Daniel; Miller, Karen K; Misra, Madhusmita; Meenaghan, Erinne; Lydecker, Janet; Wexler, Tamara; Herzog, David B; Klibanski, Anne

2009-12-01

Anorexia nervosa (AN) and functional hypothalamic amenorrhea (HA) are associated with low bone density, anxiety, and depression. Women with AN and HA have elevated cortisol levels. Significant hypercortisolemia, as in Cushing's disease, causes bone loss. It is unknown whether anxiety and depression and/or cortisol dysregulation contribute to low bone density in AN or HA. Our objective was to investigate whether hypercortisolemia is associated with bone loss and mood disturbance in women with HA and AN. We conducted a cross-sectional study in a clinical research center. We studied 52 women [21 healthy controls (HC), 13 normal-weight women with functional HA, and 18 amenorrheic women with AN]. Serum samples were measured every 20 min for 12 h overnight and pooled for average cortisol levels. Bone mineral density (BMD) was assessed by dual-energy x-ray absorptiometry (DXA) at anteroposterior and lateral spine and hip. Hamilton Rating Scales for Anxiety (HAM-A) and Depression (HAM-D) were administered. BMD was lower in AN and HA than HC at all sites and lower in AN than HA at the spine. On the HAM-D and HAM-A, AN scored higher than HA, and HA scored higher than HC. Cortisol levels were highest in AN, intermediate in HA, and lowest in HC. HAM-A and HAM-D scores were associated with decreased BMD. Cortisol levels were positively associated with HAM-A and HAM-D scores and negatively associated with BMD. Hypercortisolemia is a potential mediator of bone loss and mood disturbance in these disorders.

A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

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Raile, K; Stobbe, H; Tröbs, R B; Kiess, W; Pfäffle, R

2005-09-01

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U/l, FSH 29.4 U/l) and estradiol levels decreased (67 pmol/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her FOXL2 gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known FOXL2 mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.

An algorithm for treatment of infertile women with polycystic ovary syndrome

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Jennifer F. Kawwass

2010-10-01

Full Text Available Polycystic ovary syndrome (PCOS is a common condition with both a reproductive and metabolic phenotype. Women with PCOS often seek care because of infertility or menstrual cycle irregularities that result from chronic anovulation interspersed with occasional ovulatory cycles. Initially, it is important to delineate a differential diagnosis for oligo- or amenorrhea and to evaluate for disorders that may “masquerade” as PCOS. If fertility is a desired goal, then it is critical to optimize health conditions that impact fertility and gestation. Lifestyle modifications, including nutritional counseling and weight loss, should be a part of all treatment plans. Even minimal (5% weight loss in obese women with PCOS improves both ovulation and pregnancy rates. The first line of treatment for ovulation induction remains the selective estrogen receptor modulator (SERM clomiphene citrate. The role of insulin sensitizers, particularly metformin, remains unclear. A recent consensus panel recommended against its routine use in the absence of an elevated glucose or hemoglobin A1c. If a woman fails to achieve pregnancy after a trial of weight loss and six ovulatory cycles induced by clomiphene citrate, then ovulation induction with exogenous gonadotropin, with or without timed intrauterine insemination, or in vitro fertilitization, is a reasonable next step. Women with PCOS are particularly prone to excessive follicle development and are at increased risk for ovarian hyperstimulation syndrome (OHSS. Although limited data exist comparing approaches to ovulation induction or controlled ovarian stimulation in women with PCOS, the American Society for Reproductive Medicine recommends the use of “step-up” or “step-down” protocols in which a low dose of exogenous FSH or combined gonadotropins are employed in an attempt to constrain ovarian responsiveness. In vitro fertilization allows for the transfer of only one embryo or for cryopreservation of all

A first case of primary amenorrhea with i(X(qter---q10::---qter, rob(13;14(q10;q10, inv(9(p13q33 karyotype

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Seema Korgaonkar

2011-01-01

Full Text Available Primary amenorrhea (PA refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of women in the reproductive age group. Various factors such as anatomical, genetic and hormonal factors reported to influence PA. We report triple chromosomal abnormalities of rob(13;14(q10;q10,inv(9(p13q33, i(Xq(qter---q10::---qter in a case of PA and short stature. Though proband has multiple chromosome aberrations, genotypic effect of only i(Xq is evident as proband has PA and short stature. The rob(13;14 and inv(9, which are paternally derived may have role in later reproductive age. Therefore, chromosomal analysis is essential in such cases for the accurate diagnosis and management of the disease.

Endocrine evaluation of reproductive function in girls during infancy, childhood and adolescence

DEFF Research Database (Denmark)

Juul, Anders; Hagen, Casper P; Aksglaede, Lise

2012-01-01

a spectrum of disorders such as premature thelarche, premature adrenarche, central and peripheral precocious puberty, adolescent polycystic ovarian syndrome, functional ovarian hyperandrogenism, late-onset congenital adrenal hyperplasia, primary and secondary amenorrhea, and premature ovarian insufficiency...... detailed knowledge on the normal maturational changes in the hypothalamic-pituitary-ovarian and hypothalamic-pituitary-adrenal axes. Changes in basal reproductive hormone levels in infancy, childhood and adolescence as well as the GnRH and ACTH test procedures in girls and adolescents are described...

Achados clínicos e genéticos de cinco pacientes com anomalias relacionadas ao gene WT1

OpenAIRE

Andrade, Juliana Gabriel R. de; Guaragna, Mara Sanches; Soardi, Fernanda Caroline; Guerra-Júnior, Gil; Mello, Maricilda Palandi de; Maciel-Guerra, Andréa Trevas

2008-01-01

AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotr...

病気の顔貌と容貌（7） : 神経性食欲不振症(Anorexia nervosa)について

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佐々木, 悠; 二宮, 寛; 漢, 幸太郎; 上園, 慶子; 川崎, 晃一; 奥村, 恂

1992-01-01

Anorexia nervosa may be a life threatenings psychiatric conditions and this syndrome result from major disturbances of body image and an almost in curable fear of gaining weight. It is a disorder recognized in the nineteeth century by Gull W(1968) and Laseque EC(1873) which manifested predominantly by weight loss, amenorrhea, and eating disoders occurring almost in adolescent and young women of higher socioeconomic status. It has been attributed to a psychiatric disturbance, and endocrine-met...

Characterization of women with elevated antimüllerian hormone levels (AMH): correlation of AMH with polycystic ovarian syndrome phenotypes and assisted reproductive technology outcomes.

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Tal, Reshef; Seifer, David B; Khanimov, Moisey; Malter, Henry E; Grazi, Richard V; Leader, Ben

2014-07-01

Serum Antimüllerian hormone (AMH) levels are elevated in polycystic ovarian syndrome and have been shown to be useful in its diagnosis. However, the clinical significance of extremely high AMH levels is understudied. We aimed to characterize a population of women with elevated AMH (>5 ng/mL). This was a retrospective cohort study of 134 women presenting to our fertility clinic for infertility evaluation and treatment who were found to have random serum AMH over 5 ng/mL. Women were divided into 3 groups according to AMH: 5-10 ng/mL, >10-14 ng/mL, and >14 ng/mL. Endocrine characteristics, polycystic ovarian syndrome (PCOS) phenotypes, fertilization rate, implantation rate, clinical pregnancy, and multiple pregnancy rates were compared between groups. AMH ranged between 5 to 48 ng/mL. Greater than 97% of women with ultrahigh AMH (>10 ng/mL) had PCOS. In addition, women with AMH >10 ng/mL had greater prevalence of polycystic ovarian morphology and oligoamenorrhea than women with AMH 5-10 ng/mL. Moreover, serum AMH correlated positively with luteinizing hormone, total testosterone, and dehydroepiandrosterone sulfate. Furthermore, AMH showed strong predictive ability for the presence of amenorrhea (area under the curve, 0.87; 95% confidence interval, 0.80-0.92; P 10 ng/mL showed higher rates of ovarian hyperstimulation syndrome and clinical pregnancy rates compared with women with AMH 5-10 ng/mL. These data characterize a population of women with elevated AMH levels, demonstrating that the vast majority of women with AMH >10 ng/mL have PCOS. Increased AMH levels correlated with PCOS severity and are associated with greater ovarian stimulation and higher clinical pregnancy rates following assisted reproductive technology. Copyright © 2014 Mosby, Inc. All rights reserved.

Efficacy and patient satisfaction after NovaSure and Minerva endometrial ablation for treating abnormal uterine bleeding: a retrospective comparative study.

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Scordalakes, Constantine; delRosario, Robert; Shimer, Andrew; Stankiewicz, Russell

2018-01-01

Compare amenorrhea rate, menstrual symptoms, patient satisfaction, and adverse events in women who underwent endometrial ablation with the NovaSure versus the Minerva radiofrequency ablation systems. We surveyed 189 premenopausal women (mean 40.8±6.2 years old) who underwent endometrial ablation for abnormal uterine bleeding using the NovaSure (n=97) or Minerva (n=92) systems, at four private US gynecology clinics, and whose procedure date was after July 2015 with follow-up ≥3 months. Women were surveyed an average of 11.3±3.9 months (range 137-532 days) after ablation. The subject-reported amenorrhea rate was 52% higher in NovaSure subjects than Minerva subjects (64% and 42%, respectively; p =0.004). Age and bleeding cyclicity did not affect amenorrhea rate in either group. Normal-to-no bleeding was reported by >90% of subjects after either treatment. NovaSure was significantly more effective than Minerva at reducing pad/tampon use in women with any residual bleeding (2.4±5.2 items/day versus 4.7±5.5 items/day, p =0.049). NovaSure was significantly more effective than Minerva at reducing premenstrual syndrome (PMS) symptoms ( p =0.019) and menstrual pain ( p =0.003), and more NovaSure subjects (94%) than Minerva subjects (78%) were satisfied with clinical outcomes ( p =0.003). Adverse events did not differ by treatment; three women in each group progressed to hysterectomy. While overall bleeding reduction in premenopausal women with abnormal uterine bleeding was excellent with either endometrial ablation system, NovaSure treatment resulted in a higher patient-reported 1-year amenorrhea rate, and women with residual bleeding used fewer pads and tampons than Minerva-treated women. Additionally, NovaSure subjects reported better menstrual-related life quality and PMS symptom alleviation, and greater satisfaction with outcomes than Minerva-treated women.

Understanding Bartter syndrome and Gitelman syndrome.

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Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Circulating Anti-Müllerian Hormone Levels in Daughters of Women with and without Polycystic Ovary Syndrome.

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Olszanecka-Glinianowicz, Magdalena; Zachurzok, Agnieszka; Drosdzol-Cop, Agnieszka; Bożętowicz-Wikarek, Maria; Owczarek, Aleksander; Gawlik, Aneta; Chudek, Jerzy; Skrzypulec-Plinta, Violetta; Małecka-Tendera, Ewa

2016-01-01

The aim of this study was to assess whether circulating anti-Müllerian hormone (AMH) levels in daughters of women with polycystic ovary syndrome (PCOSd) correspond with clinical and biochemical features of hyperandrogenism, polycystic ovary morphology and menstrual cycle disturbances. Menstrual cycle disturbances, hirsutism, acne and ultrasonographic ovarian morphology were assessed in 75 girls aged 13-18 years (35 PCOSd and 40 daughters of healthy women). Serum gonadotropins, androgens, sex hormone-binding globulin and plasma AMH were measured in a fasting state, and the free androgen index was calculated. A significant correlation between the AMH level and mean ovary volume was found (r = 0.36; p polycystic ovary morphology. Significantly higher AMH levels were found only in PCOSd with irregular menstruation or secondary amenorrhea. The results of logistic regression analysis showed that in that group for each 1-ng/ml increase in the AMH level, the odds ratio of the PCOS occurrence in the future was increased 1.27 times (95% CI: 1.09-1.47; p < 0.01). A higher AMH level in PCOSd is associated with menstrual cycle disturbances and larger ovarian volume but not with clinical and biochemical features of hyperandrogenism. Thus, the risk for PCOS development among genetically predisposed girls may be related to increased AMH levels. © 2016 S. Karger AG, Basel.

Hypothalamic, pituitary and thyroid dysfunction after radiotherapy to the head and neck

Energy Technology Data Exchange (ETDEWEB)

Samaan, N.A.; Vieto, R.; Schultz, P.N.; Maor, M.; Meoz, R.T.; Sampiere, V.A.; Cangir, A.; Ried, H.L.; Jesse, R.H. Jr.

1982-11-01

One hundred-ten patients who had nasopharyngeal cancer and paranasal sinus tumors and were free of the primary disease were studied one to 26 years following radiotherapy. There were 70 males and 40 females ranging in age from 4 to 75 years, with a mean age of 36.5 years. During therapy both the hypothalamus and the anterior pituitary gland were in the field of irradiation. The radiation dose to the hypothalamus and the anterior pituitary gland was estimated to be 400 to 7500 rad with a median dose of 5618 rad to the anterior pituitary gland and a median dose of 5000 rad to the hypothalamus. We found evidence of endocrine deficiencies in 91 of the 110 patients studied. Seventy-six patients showed evidence of one or more hypothalamic lesions and 43 patients showed evidence of primary pituitary deficiency. Forty of the 66 patients who received radiotherapy to the neck for treatment or prevention of lymph node metastasis showed evidence of primary hypothyroidism. The range of the dose to the thyroid area was 3000 to 8800 rad with a median of 5000 rad. One young adult woman who developed galactorrhea and amenorrhea 2 years following radiotherapy showed a high serum prolactin level, but had normal anterior pituitary function and sella turcica. She regained her menses and had a normal pregnancy and delivery following bromocriptine therapy. These results indicate that endocrine deficiencies after radiotherapy for tumors of the head and neck are common and should be detected early and treated. Long-term follow-up of these patients is indicated since complications may appear after the completion of radiotherapy.

Hypothalamic, pituitary and thyroid dysfunction after radiotherapy to the head and neck

International Nuclear Information System (INIS)

Samaan, N.A.; Vieto, R.; Schultz, P.N.; Maor, M.; Meoz, R.T.; Sampiere, V.A.; Cangir, A.; Ried, H.L.; Jesse, R.H. Jr.

1982-01-01

One hundred-ten patients who had nasopharyngeal cancer and paranasal sinus tumors and were free of the primary disease were studied one to 26 years following radiotherapy. There were 70 males and 40 females ranging in age from 4 to 75 years, with a mean age of 36.5 years. During therapy both the hypothalamus and the anterior pituitary gland were in the field of irradiation. The radiation dose to the hypothalamus and the anterior pituitary gland was estimated to be 400 to 7500 rad with a median dose of 5618 rad to the anterior pituitary gland and a median dose of 5000 rad to the hypothalamus. We found evidence of endocrine deficiencies in 91 of the 110 patients studied. Seventy-six patients showed evidence of one or more hypothalamic lesions and 43 patients showed evidence of primary pituitary deficiency. Forty of the 66 patients who received radiotherapy to the neck for treatment or prevention of lymph node metastasis showed evidence of primary hypothyroidism. The range of the dose to the thyroid area was 3000 to 8800 rad with a median of 5000 rad. One young adult woman who developed galactorrhea and amenorrhea 2 years following radiotherapy showed a high serum prolactin level, but had normal anterior pituitary function and sella turcica. She regained her menses and had a normal pregnancy and delivery following bromocriptine therapy. These results indicate that endocrine deficiencies after radiotherapy for tumors of the head and neck are common and should be detected early and treated. Long-term follow-up of these patients is indicated since complications may appear after the completion of radiotherapy

The effect of leptin replacement on parathyroid hormone, RANKL-osteoprotegerin axis, and Wnt inhibitors in young women with hypothalamic amenorrhea.

Science.gov (United States)

Foo, Joo-Pin; Polyzos, Stergios A; Anastasilakis, Athanasios D; Chou, Sharon; Mantzoros, Christos S

2014-11-01

Recombinant leptin (metreleptin) treatment restores bone mineral density in women with hypothalamic amenorrhea (HA), a condition characterized by hypoleptinemia, which has adverse impact on bone health. The objective of the study was to investigate how metreleptin exerts its positive effect on bone metabolism in humans. This was a randomized, double-blinded, placebo-controlled study. The study was conducted at Beth Israel Deaconess Medical Center (Boston, Massachusetts). Women (n = 18) with HA and hypoleptinemia for at least 6 months were randomized to receive either metreleptin or placebo for 36 weeks. Serum samples were obtained at baseline and 12, 24, and 36 weeks of treatment. Circulating levels of leptin, intact PTH (iPTH), receptor activator of nuclear factor-κB ligand (RANKL), osteoprotegerin (OPG), sclerostin, dickkopf-1, and fibroblast growth factor-23. Metreleptin administration significantly increased leptin levels throughout the treatment period (P = .001). iPTH decreased over the 36 weeks of treatment (P = .01). There was a trend toward a decrease in serum RANKL and increase in serum OPG in the metreleptin-treated group. The RANKL to OPG ratio was significantly decreased within the metreleptin (P = .04) but not the placebo group. Metreleptin had no effect on serum sclerostin, dickkopf-1, and fibroblast growth factor-23. Metreleptin treatment over 36 weeks decreases iPTH and RANKL to OPG ratio levels in hypoleptinemic women with HA.

Modulatory effects of l-carnitine plus l-acetyl-carnitine on neuroendocrine control of hypothalamic functions in functional hypothalamic amenorrhea (FHA).

Science.gov (United States)

Genazzani, Alessandro D; Despini, Giulia; Czyzyk, Adam; Podfigurna, Agnieszka; Simoncini, Tommaso; Meczekalski, Blazej

2017-12-01

Functional hypothalamic amenorrhea (FHA) is a relatively frequent disease due to the combination of metabolic, physical, or psychological stressors. It is characterized by the low endogenous GnRH-induced gonadotropin secretion, thus triggering the ovarian blockade and a hypoestrogenic condition. Up to now various therapeutical strategies have been proposed, both using hormonal treatment as well as neuroactive compounds. Since carnitine, namely l-acetyl-carnitine (LAC), has been demonstrated to be effective in the modulation of the central hypothalamic control of GnRH secretion, we aimed to evaluate whether a combined integrative treatment for 12 weeks of LAC (250 mg/die) and l-carnitine (500 mg/die) was effective in improving the endocrine and metabolic pathways in a group of patients (n = 27) with FHA. After the treatment, interval mean LH plasma levels increased while those of cortisol and amylase decreased significantly. When patients were subdivided according to baseline LH levels, only hypo-LH patients showed the significant increase of LH plasma levels and the significant decrease of both cortisol and amylase plasma levels. The increased 17OHP/cortisol ratio, as index of the adrenal activity, demonstrated the reduced stress-induced adrenal activity. In conclusion, our data sustain the hypothesis that the integrative administration of LAC plus l-carnitine reduced both the metabolic and the neuroendocrine impairment of patients with FHA.

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

Science.gov (United States)

Berio, A; Trucchi, R; Meliota, M

1992-05-01

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Effects of cetrorelix, a GnRH-receptor antagonist, on gonadal axis in women with functional hypothalamic amenorrhea.

Science.gov (United States)

Berardelli, Rita; Gianotti, Laura; Karamouzis, Ioannis; Picu, Andreea; Giordano, Roberta; D'Angelo, Valentina; Zinnà, Domenico; Lanfranco, Fabio; Ghigo, Ezio; Arvat, Emanuela

2011-10-01

Gonadotropin Releasing Hormone (GnRH) antagonists (GnRHa) suppress gonadotropin and sex-steroid secretion. In normal women, acute GnRHa administration induces inhibitory effect on pituitary-gonadal axis, followed by Luteinizing Hormone (LH) rebound. Functional hypothalamic amenorrhea (HA) is characterised by impaired gonadotropin secretion and hypogonadism secondary to blunted GnRH pulsatility. We studied the effects of a GnRHa, cetrorelix (CTX 3.0 mg), in six women with HA (age 30.7 ± 3.2 years; BMI 21.5 ± 1.7 kg/m(2)) and six control subjects (CS, 28.2 ± 0.6 years; 22.6 ± 0.9 kg/m(2)) on LH, Follicle-Stimulating Hormone (FSH) and oestradiol levels over 4 h (08.00-12.00 am) before, +24 h and +96 h after CTX; LH, FSH, and oestradiol were also evaluated at +6, +8, +12, +48, +72 h after CTX. CS: CTX reduced (p < 0.05) LH, FSH, and oestradiol (nadir at +12 h, +24 h, and +24 h); LH rebounded at +96 h, FSH and oestradiol recovered at +48 h and +72 h. The 4-h evaluation showed LH and FSH reduction (p < 0.05) at +24 h, with LH rebound at +96 h. HA: CTX reduced (p < 0.05) LH, FSH, and oestradiol, (nadir at +24 h, +48 h, and +48 h, recovery at +48 h, +72 h, and +96 h). The 4-h evaluation showed gonadotropin reduction (p < 0.05) 24 h after CTX, without any rebound effect. One single CTX dose still modulates gonadotropin secretion in HA. Its 'paradoxical' stimulatory effect on gonadotropins needs to be verified after prolonged administration.

Does polycystic ovarian morphology influence the response to treatment with pulsatile GnRH in functional hypothalamic amenorrhea?

Science.gov (United States)

Dumont, Agathe; Dewailly, Didier; Plouvier, Pauline; Catteau-Jonard, Sophie; Robin, Geoffroy

2016-04-29

Pulsatile GnRH therapy is the gold standard treatment for ovulation induction in women having functional hypothalamic amenorrhea (FHA). The use of pulsatile GnRH therapy in FHA patients with polycystic ovarian morphology (PCOM), called "FHA-PCOM", has been little studied in the literature and results remain contradictory. The aim of this study was to compare the outcomes of pulsatile GnRH therapy for ovulation induction between FHA and "FHA-PCOM" patients in order to search for an eventual impact of PCOM. Retrospective study from August 2002 to June 2015, including 27 patients with FHA and 40 "FHA-PCOM" patients (85 and 104 initiated cycles, respectively) treated by pulsatile GnRH therapy for induction ovulation. The two groups were similar except for markers of PCOM (follicle number per ovary, serum Anti-Müllerian Hormone level and ovarian area), which were significantly higher in patients with "FHA-PCOM". There was no significant difference between the groups concerning the ovarian response: with equivalent doses of GnRH, both groups had similar ovulation (80.8 vs 77.7 %, NS) and excessive response rates (12.5 vs 10.6 %, NS). There was no significant difference in on-going pregnancy rates (26.9 vs 20 % per initiated cycle, NS), as well as in miscarriage, multiple pregnancy or biochemical pregnancy rates. Pulsatile GnRH seems to be a successful and safe method for ovulation induction in "FHA-PCOM" patients. If results were confirmed by prospective studies, GnRH therapy could therefore become a first-line treatment for this specific population, just as it is for women with FHA without PCOM.

Marfan syndrome masked by Down syndrome?

NARCIS (Netherlands)

Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

2009-01-01

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

Prolactinoma in a Dog

NARCIS (Netherlands)

Cosio, Cristina; Sartori, Elena; Garatti, Marcello; Luccardini, Lorenzo; Grinwis, G C M; Kooistra, Hans S; Fracassi, Federico

2017-01-01

A 12-year-old male Yorkshire Terrier was presented because of decreased appetite. Physical examination revealed mammary gland swelling and galactorrhea. Contrast-enhanced computed tomographic scanning of the skull indicated an enlarged pituitary gland, compatible with a pituitary tumor. The serum

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

Science.gov (United States)

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Hamartomatous polyposis syndromes

DEFF Research Database (Denmark)

Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

2014-01-01

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

Antagonism of Taxol Cytotoxicity by Prolactin: Implication for Patient Resistance to Chemotherapy

Science.gov (United States)

2008-03-01

often occurs during adolescence . When both estrogen and PRL are elevated, men can have galactorrhea, or inap- propriate milk production (246, 275...Women treated with oral contraceptives or postmenopausal hormone replacement therapy do not have a higher inci- dence of prolactinomas. Statements on

Seckel syndrome: an overdiagnosed syndrome.

OpenAIRE

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

Comparing the frequency of polycystic ovary syndrome in women with and without epilepsy

Directory of Open Access Journals (Sweden)

Leila Amini

2018-01-01

Full Text Available Introduction: Polycystic ovary syndrome (PCOS is one of the most common endocrine disorders; the impact of epilepsy and antiepileptic drugs influences the function of hypothalamic–pituitary–gonadal axis and dysfunction of the endocrine system and reproductive hormones in women with epilepsy. This study was carried out with an aim of determining and comparing the frequency and intensity of the complications of the hirsutism in women with and without epilepsy in Tehran in 2016–2017. Materials and Methods: This is a cross-sectional-comparative study which was carried out on 338 women of 18–35-year-old women with and without epilepsy who were selected by continuous sampling method. Data were collected and analyzed by Chi-square statistical test. The quantity of P was considered to be 0.05 as the level of significance. Results: The results of this study indicated that there was a statistically significant difference between the two groups with and without epilepsy in terms of the frequency of some of the clinical symptoms of the PCOS and affected by it. The results of this study showed that a higher percentage of women with epilepsy were affected PCOS. In the group of epileptic patients, some of the clinical symptoms of PCOS such as hirsutism, acanthosis nigricans, disordered menstruation, and amenorrhea were higher which as a result led to an increase in the frequency of PCOS. Conclusion: As a result, epilepsy can lead to an increase in the frequency of PCOS and some other clinical symptoms.

Prognostic Effects of Adjuvant Chemotherapy-Induced Amenorrhea and Subsequent Resumption of Menstruation for Premenopausal Breast Cancer Patients

Science.gov (United States)

Jeon, Se Jeong; Lee, Jae Il; Jeon, Myung Jae; Lee, Maria

2016-01-01

Abstract Chemotherapy-induced amenorrhea (CIA) is a side effect that occurs in patients with breast cancer (BC) as a result of chemotherapy. These patients require special treatments to avoid infertility and menopause. However, the factors controlling CIA, resumption of menstruation (RM), and persistence of menstruation after chemotherapy are unknown. The long-term prognosis for premenopausal patients with BC and the prognostic factors associated with CIA and RM are subject to debate. We performed a retrospective study by reviewing the medical records of 249 patients with BC (stage I to stage III) who were treated with cytotoxic chemotherapy. The median patient age was 43 (range, 26–55 years) and the median duration of follow-up was 64 months (range, 28–100 months). The medical records indicated that 219 patients (88.0%) scored as positive for the hormone receptor (HR); the majority of these patients completed chemotherapy and then received additional therapy of tamoxifen. Our analyses revealed that 88.0% (n = 219) of patients experienced CIA, and the percentage of RM during follow-up was 48.6% (n = 121). A total of 30 patients (12.0%) did not experience CIA. Disease-free survival (DFS) was affected by several factors, including tumour size ≥2 cm, node positivity, HR negative status, and body mass index ≥23 kg/m2. Multivariate analysis indicated that tumour size ≥2 cm remained as a significant factor for DFS (hazard ratio = 3.3, P = 0.034). In summary, this study finds that the majority of premenopausal patients with BC (stage I to stage III) who receive chemotherapy experience CIA and subsequent RM. Although tumour size ≥2 cm is negatively associated with DFS, RM after CIA is not associated with poor prognosis. PMID:27057900

Prognostic Effects of Adjuvant Chemotherapy-Induced Amenorrhea and Subsequent Resumption of Menstruation for Premenopausal Breast Cancer Patients.

Science.gov (United States)

Jeon, Se Jeong; Lee, Jae Il; Jeon, Myung Jae; Lee, Maria

2016-04-01

Chemotherapy-induced amenorrhea (CIA) is a side effect that occurs in patients with breast cancer (BC) as a result of chemotherapy. These patients require special treatments to avoid infertility and menopause. However, the factors controlling CIA, resumption of menstruation (RM), and persistence of menstruation after chemotherapy are unknown. The long-term prognosis for premenopausal patients with BC and the prognostic factors associated with CIA and RM are subject to debate. We performed a retrospective study by reviewing the medical records of 249 patients with BC (stage I to stage III) who were treated with cytotoxic chemotherapy. The median patient age was 43 (range, 26-55 years) and the median duration of follow-up was 64 months (range, 28-100 months). The medical records indicated that 219 patients (88.0%) scored as positive for the hormone receptor (HR); the majority of these patients completed chemotherapy and then received additional therapy of tamoxifen. Our analyses revealed that 88.0% (n = 219) of patients experienced CIA, and the percentage of RM during follow-up was 48.6% (n = 121). A total of 30 patients (12.0%) did not experience CIA. Disease-free survival (DFS) was affected by several factors, including tumour size ≥2 cm, node positivity, HR negative status, and body mass index ≥23 kg/m. Multivariate analysis indicated that tumour size ≥2 cm remained as a significant factor for DFS (hazard ratio = 3.3, P = 0.034). In summary, this study finds that the majority of premenopausal patients with BC (stage I to stage III) who receive chemotherapy experience CIA and subsequent RM. Although tumour size ≥2 cm is negatively associated with DFS, RM after CIA is not associated with poor prognosis.

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

DEFF Research Database (Denmark)

Tracewska-Siemiątkowska, Anna; Haer-Wigman, Lonneke; Bosch, Danielle G M

2017-01-01

Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease....... A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported...

Superior Mesenteric Artery Syndrome or Wilkie Syndrome

International Nuclear Information System (INIS)

Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

2009-01-01

We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

Beals Syndrome

Science.gov (United States)

... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

75 FR 36419 - Determination That DELALUTIN (hydroxyprogesterone caproate) Injection, 125 Milligrams/Milliliter...

Science.gov (United States)

2010-06-25

... amenorrhea (primary and secondary) and abnormal uterine bleeding due to hormonal imbalance in the absence of... containing hydroxyprogesterone caproate are effective for use in amenorrhea and abnormal uterine bleeding due... follows: ``This drug is indicated in amenorrhea; abnormal uterine bleeding due to hormonal imbalance in...

Ten-year literature review of global endometrial ablation with the NovaSure® device

Directory of Open Access Journals (Sweden)

Gimpelson RJ

2014-03-01

Full Text Available Richard J Gimpelson Mercy Clinic, Minimally Invasive Gynecology, Department of Obstetrics and Gynecology, Mercy Hospital St Louis, St Louis, MO, USA Abstract: This review examines the peer-reviewed literature describing prospective studies that report amenorrhea rates, patient satisfaction, and surgical reintervention rates following the NovaSure® endometrial ablation procedure. A search of the English-language literature published from 2000 to 2011 was conducted using PubMed. Ten prospective studies, six single-arm NovaSure trials, and four randomized controlled trials comparing the NovaSure procedure with other global endometrial ablation modalities met the inclusion criteria and were reviewed. The follow-up periods ranged from 6 to 60 months. Amenorrhea rates for the NovaSure procedure ranged from 30.0% to 75.0%. Patients who reported being satisfied with the NovaSure procedure ranged from 85.0% to 94.0%. In randomized controlled trials with other global endometrial ablation modalities, amenorrhea rates at 12 months with the NovaSure procedure ranged from 43.0% to 56.0%, while other modalities ranged from 8% to 24%. In addition, this manuscript reviews the following: the NovaSure technology; use of the NovaSure procedure in the office setting; intraoperative and postoperative pain; effects on premenstrual syndrome (PMS; dysmenorrhea; special circumstances, including presence of uterine disease, history of cesarean delivery, coagulopathy, or use of anticoagulant medication; post-procedure uterine cavity assessment and cancer risk; contraception and pregnancy; and safety. Keywords: abnormal uterine bleeding, menorrhagia, endometrial ablation, NovaSure®

Amenorrhea

Science.gov (United States)

... chemotherapy or radiation Long-term lack of ovulation (release of an egg from the ovary) due to disorders of the hypothalamus • Mental stress • Weight loss and low body weight • Eating disorders such as anorexia • Excessive exercise • Tumor of ...

Amenorrhea

Science.gov (United States)

... finds genetic clue to menopause-like condition in young women All related news BACK TO TOP Content Owner Office of Communications Last Reviewed Date 1/31/2017 Contact Us Publications Sitemap Español facebook twitter pinterest youtube flickr Instagram NEWSROOM NICHD News Videos OUTREACH Safe ...

Comparison between pulsatile GnRH therapy and gonadotropins for ovulation induction in women with both functional hypothalamic amenorrhea and polycystic ovarian morphology.

Science.gov (United States)

Dumont, Agathe; Dewailly, Didier; Plouvier, Pauline; Catteau-Jonard, Sophie; Robin, Geoffroy

2016-12-01

Ovulation induction in patients having both functional hypothalamic amenorrhea (FHA) and polycystic ovarian morphology (PCOM) has been less studied in the literature. As results remain contradictory, no recommendations have yet been established. To compare pulsatile GnRH therapy versus gonadotropins for ovulation induction in "FHA-PCOM" patients and to determine if one treatment strikes as superior to the other. A 12-year retrospective study, comparing 55 "FHA-PCOM" patients, treated either with GnRH therapy (38 patients, 93 cycles) or with gonadotropins (17 patients, 53 cycles). Both groups were similar, defined by low serum LH and E2 levels, low BMI, excessive follicle number per ovary and/or high serum AMH level. Ovulation rates were significantly lower with gonadotropins (56.6% versus 78.6%, p = 0.005), with more cancellation and ovarian hyper-responses (14% versus 34% per initiated cycle, p < 0.005). Pregnancy rates were significantly higher with GnRH therapy, whether per initiated cycle (26.9% versus 7.6%, p = 0.005) or per patient (65.8% versus 23.5%, p = 0.007). In our study, GnRH therapy was more successful and safer than gonadotropins, for ovulation induction in "FHA-PCOM" patients. If results were confirmed by prospective studies, it could become a first-line treatment for this population, just as it is for FHA women without PCOM.

Impaired vascular function in physically active premenopausal women with functional hypothalamic amenorrhea is associated with low shear stress and increased vascular tone.

Science.gov (United States)

O'Donnell, Emma; Goodman, Jack M; Mak, Susanna; Harvey, Paula J

2014-05-01

Exercise-trained hypoestrogenic premenopausal women with functional hypothalamic amenorrhea (ExFHA) exhibit impaired endothelial function. The vascular effects of an acute bout of exercise, a potent nitric oxide stimulus, in these women are unknown. Three groups were studied: recreationally active ExFHA women (n = 12; 24.2 ± 1.2 years of age; mean ± SEM), and recreationally active (ExOv; n = 14; 23.5 ± 1.2 years of age) and sedentary (SedOv; n = 15; 23.1 ± 0.5 years of age) ovulatory eumenorrheic women. Calf blood flow (CBF) and brachial artery flow-mediated dilation (FMD) were evaluated using plethysmographic and ultrasound techniques, respectively, both before and 1 hour after 45 minutes of moderate-intensity exercise. Endothelium-independent dilation was assessed at baseline using glyceryl trinitrate. Calf vascular resistance (CVR) and brachial peak shear rate, as determined by the area under the curve (SRAUCpk), were also calculated. FMD and glyceryl trinitrate responses were lower (P .05) the findings. CBF was lower (P .05) between the groups. CBF in ExFHA was increased (P < .05) and CVR decreased (P < .05) to levels observed in ovulatory women. Acute dynamic exercise improves vascular function in ExFHA women. Although the role of estrogen deficiency per se is unclear, our findings suggest that low shear rate and increased vasoconstrictor tone may play a role in impaired basal vascular function in these women.

Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome.

Science.gov (United States)

Nguyen, H H; Wong, P; Strauss, B J; Jones, G; Ebeling, P R; Milat, F; Vincent, A

2017-10-01

Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated. Primary amenorrhea was common (83%) in the TS cohort; the median age of pubertal induction was 15 years (range 11-30 years), and non-continuous estrogen therapy (ET) recorded in 40%. Almost one-third of TS patients reported fractures. TS patients had lower median spinal aBMD (1.026 g/cm 2 vs. 1.221 g/cm 2 ) and BMAD (0.156 g/cm 3 vs. 0.161 g/cm 3 ) than controls, and lower median FN aBMD (0.850 g/cm 2 vs. 1.026 g/cm 2 ) (all p < 0.01). More women with TS had spinal Z-score < -2.0 compared to controls (26.0% vs. 3.6%, p = 0.001). Spine and FN aBMD, BMAD and Z-scores were inversely associated with age commencing ET or years of estrogen deficiency. Delay in ET commencement was an independent risk factor for the lower bone density observed in women with TS. Early pubertal induction and ET compliance are important targets to optimize aBMD.

Polycystic Ovary Syndrome in University Students: Occurrence and Associated Factors

Directory of Open Access Journals (Sweden)

Amita Attlee

2014-11-01

Full Text Available Background: The aim of this study was to assess the occurrence of polycystic ovary syndrome (PCOS and its association with body composition among students in University of Sharjah (UOS. Materials and Methods: This cross-sectional study included a total sample size of 50 female students registering in undergraduate programs at the University of Sharjah using convenience sampling technique. A pretested interview schedule was administered to elicit information pertaining to personal background and medical history related to PCOS. A diagnostic ultrasound scan was performed for determining PCOS along with a body composition analysis using bioelectrical impedance analysis (BIA technology. Results: Twenty percent (10 out of 50 participants were diagnosed with PCOS, of whom only 4 individuals were previously diagnosed with PCOS and aware of their conditions, while the reports showed 16% with oligomenorrhea, 4% with polymenorrhea, and none with amenorrhea. A positive family history was indicated as reported by 22% of the total participants. Significant difference between the body weights of participants having PCOS (66.7 kg and those without it (58.8 kg were noted (p=0.043, t=2.084. On the other hand, the body composition related variables including waist-hip ratio (WHR, fat-free mass (FFM, percent body fat (PBF and visceral fat area (VFA were relatively higher in participants having PCOS than those without it. However, there was no statistical significance of differences. Comparatively, the participants with PCOS had lower bone mineral density (BMD than those without it, whereas the difference was statistically non-significant. Conclusion: The occurrence of PCOS in the present study is consistent with the global prevalence. Comparatively, the body composition of PCOS females is different from the normal females. Further studies are required in the Middle East region on larger sample sizes and broader aspects of health including lifestyle and dietary

Serotonin syndrome

Science.gov (United States)

Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

Be careful….. She has a pituitary gland in her nose

NARCIS (Netherlands)

Rabelink, N.M.; Lips, P.T.A.M.; Castelijns, J.

2012-01-01

In this case report we describe a 38 year-old-female with galactorrhea several months after the birth of an anencephalic child. She had hyperpolactemia and imaging of the pituitary gland revealed a midline defect and a nasopharyngeal mass compatible with a meningo-(hypophyso-) encephalocele and

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

Duane Syndrome

Science.gov (United States)

... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

Phenotypic subgroups of polycystic ovary syndrome have different intra-renal resistance symptoms.

Science.gov (United States)

Ciftci, Ceylan F; Uckuyu, Ayla; Karadeli, Elif; Turhan, Erdem; Toprak, Erzat; Ozcimen, Emel E

2012-12-01

The polycystic ovary syndrome (PCOS) is known to be related with increased metabolic and cardiovascular risks. Various phenotypic subgroups of PCOS have been proven to have metabolic and endocrine disorders with varying degrees of severity However, intra-renal vascular resistance, which is an indirect indication of atherosclerosis, remains unknown in PCOS subgroups. In this study we examined whether PCOS subgroups have different intra-renal resistance symptoms. 98 PCOS patients (diagnosed according to the Rotterdam criteria) 30 controls were included in the study The diagnosis of PCOS was established in the presence of at least two of the following criteria: 1-oligo and/or amenorrhea (OM); 2-clinic and/or biochemical signs of hyperandrogenism (HA); 3-polycystic ovarian morphology (PCO) detected by transvaginal ultrasonography 37 patients (Group 1) met all three criteria (HA+OM+PCO), 29 patients (Group 2) met two of the criteria including hyperandrogenism (HA+OM or HA+PCO) and the remaining 32 patients (Group 3) had no hyperandrogenism but fulfilled the other two criteria; PCO+OM. Renal Doppler ultrasonography and hormonal/biochemical analyses were carried out. The first outcome measure was designated as the differences in the renal resistive index (RRI) values of the groups, and the second outcome measure was designated as the relation of RRI with the insulin resistance and lipid profile. In Group 1, the RRI and the homeostasis model assessment of insulin resistance (HOMA-IR) values were significantly higher than in Group 3 and controls (P PCOS subgroups have metabolic and endocrine disorders and cardiovascular risks of varying degrees of severity Moreover, we showed that there was no increase of metabolic and cardiovascular risks in PCOS patients without hyperandrogenism.

A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report

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Joo Hee Lim

2016-03-01

Full Text Available A 14-year-old girl was referred for evaluation of the etiology of Cushing syndrome. During the previous 2 years, she had experienced weight gain, secondary amenorrhea, growth retardation, and back pain. Random serum cortisol level, 24-hour urinary free cortisol excretion, and overnight and low-dose dexamethasone suppression tests suggested Cushing syndrome. Midnight adrenocorticotropic hormone (ACTH level and high-dose dexamethasone suppression test confirmed Cushing disease. Pituitary magnetic resonance imaging was suspicious for microadenoma. To eliminate ectopic ACTH syndrome, and lateralize the pituitary tumor, inferior petrosal sinus sampling (IPSS was performed by desmopressin use to stimulate ACTH. Finally, the patient was diagnosed with Cushing disease due to ACTH-secreting pituitary microadenoma, lateralized to the left side; subsequently underwent transsphenoidal surgery. Here we report a case of a 14-year-old girl diagnosed with Cushing disease with a pituitary tumor lateralized by IPSS using desmopressin, which is very rare in pediatric Cushing disease.

A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report.

Science.gov (United States)

Lim, Joo Hee; Kim, Soo Jung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

2016-03-01

A 14-year-old girl was referred for evaluation of the etiology of Cushing syndrome. During the previous 2 years, she had experienced weight gain, secondary amenorrhea, growth retardation, and back pain. Random serum cortisol level, 24-hour urinary free cortisol excretion, and overnight and low-dose dexamethasone suppression tests suggested Cushing syndrome. Midnight adrenocorticotropic hormone (ACTH) level and high-dose dexamethasone suppression test confirmed Cushing disease. Pituitary magnetic resonance imaging was suspicious for microadenoma. To eliminate ectopic ACTH syndrome, and lateralize the pituitary tumor, inferior petrosal sinus sampling (IPSS) was performed by desmopressin use to stimulate ACTH. Finally, the patient was diagnosed with Cushing disease due to ACTH-secreting pituitary microadenoma, lateralized to the left side; subsequently underwent transsphenoidal surgery. Here we report a case of a 14-year-old girl diagnosed with Cushing disease with a pituitary tumor lateralized by IPSS using desmopressin, which is very rare in pediatric Cushing disease.

Wells syndrome and its relationship to Churg-Strauss syndrome.

Science.gov (United States)

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

Goldenhar Syndrome in Association with Duane Syndrome

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U D Shrestha

2012-03-01

Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

Fanconi syndrome

Science.gov (United States)

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

Institute of Scientific and Technical Information of China (English)

无

1991-01-01

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

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Tullu M

2000-04-01

Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

Energy Technology Data Exchange (ETDEWEB)

Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

1994-09-01

The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

Science.gov (United States)

Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

2014-06-01

Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

Do Different Diagnostic Criteria Impact Polycystic Ovary Syndrome Diagnosis for Adolescents?

Science.gov (United States)

Akgül, Sinem; Düzçeker, Yasemin; Kanbur, Nuray; Derman, Orhan

2018-06-01

Although early diagnosis of polycystic ovary syndrome (PCOS) in adolescents might allow for earlier treatment and prevention of chronic disorders, incorrect or premature diagnosis carries risks of unnecessary treatment and psychological distress. There is no consensus concerning which diagnostic criteria to use for adolescents and current criteria vary. The objective of this study was to determine whether using different diagnostic criteria will affect PCOS diagnosis in adolescents. Fifty-two patients aged 13-18 years with at least 2 of the following criteria were included in the study: (1) oligomenorrhea or amenorrhea; (2) Clinical or biochemical hyperandrogenism; and (3) polycystic ovaries on ultrasonography. Patients were then categorized according to the 6 different criteria for PCOS. National Institutes of Health, Rotterdam criteria, Androgen Excess Society, Amsterdam criteria, Endocrine Society criteria, and the Pediatric Endocrine Society criteria. The characteristics of adolescents who were diagnosed with PCOS were also evaluated. Forty-one patients out of 52 (78.8%) received diagnosis with National Institutes of Health and Endocrine Society criteria, all with Rotterdam criteria, 45/52 (86.5%) with Androgen Excess Society criteria, 36/52 (69.2%) with Amsterdam criteria and 34/52 (65.4%) with the Pediatric Endocrine Society criteria. This study shows that the choice of guideline used does have a great effect on whether an adolescent received the PCOS diagnosis or not. For physicians using the broader criteria, care should be taken to ensure the patient does not receive diagnosis because of the physiological changes seen during puberty, which might mimic PCOS. For those using stricter criteria, close monitoring of patients who do not receive diagnosis is necessary to prevent chronic complications. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

NARCIS (Netherlands)

de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

2016-01-01

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Science.gov (United States)

Flynn, Maureen A; Milunsky, Jeff M

2006-06-15

Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

Effects of Moderate Aerobic Exercise Combined With Caloric Restriction on Circulating Estrogens and IGF-1 in Premenopausal Women

Science.gov (United States)

2005-08-01

cyclicity in cynomolgus monkeys during strenuous exercise training: rapid transition to exercise - induced amenorrhea Endocrinology 142: 2381- 2389...and menstrual cyclicity in cynomolgus monkeys during strenuous exercise training: rapid transition to exercise - induced amenorrhea Endocrinology 142...Spain. p. 155, 1992 Williams, N.I., A.L. Caston, and J.L. Cameron. Induction and reversal of exercise - induced amenorrhea : Temporal correlation

West syndrome in a patient with Schinzel-Giedion syndrome.

Science.gov (United States)

Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

2015-06-01

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

Cushing syndrome

Science.gov (United States)

Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

A Case with 46,XX,dup(X(q21.3q24 karyotype

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Selda Şimşek

2010-03-01

Full Text Available The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are normal;some have short stature; and others have features suchas microcephaly, developmental delay/mental retardation,body asymmetries, and gonadal dysgenesis. Somefeatures in these females resemble those in Turner syndrome.We, herein, presented a 15 years-old girl withshort stature and primary amenorrhea, who was referredto cytogenetic laboratory. Through karyotipe analysis performedby Giemsa banding technique, the patient wasdetermined to have positive Barr body and 46,XX,dup(X(q21.3q24 chromosomal constitution. Case was discussedaccording to information of present literatures.

Russell-Silver syndrome

Science.gov (United States)

Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

[Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

Science.gov (United States)

Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

2014-01-01

Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

LEOPARD syndrome

Science.gov (United States)

Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

Dravets syndrom

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

2010-01-01

Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

Directory of Open Access Journals (Sweden)

Molly B. Sheridan

2015-01-01

Full Text Available Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition. Both required hormone treatment to produce secondary sex characteristics and pubertal development beyond Tanner 1. SNP array analysis of both probands was performed to detect shared regions of homozygosity which may harbor homozygous mutations in a gene causing their common features of abnormal pubertal development, alopecia, and variable cognitive delay. Our patients shared multiple homozygous genomic regions; ten shared regions were >1 Mb in length and constituted 0.99% of the genome. DCAF17, encoding a transmembrane nuclear protein of uncertain function, was the only gene identified in a homozygous region known to cause hypogonadotropic hypogonadism. DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, hypogonadotropic hypogonadism, sensorineural hearing loss, diabetes mellitus, and extrapyramidal movements. Sequencing of the coding exons and flanking intronic regions of DCAF17 in the proband revealed homozygosity for a previously described founder mutation (c.436delC. Targeted DCAF17 sequencing of his affected sibling revealed the same homozygous mutation. This family illustrates the utility of SNP array testing in consanguineous families to efficiently and inexpensively identify regions of genomic homozygosity in which genetic candidates for recessive conditions can be identified.

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

Science.gov (United States)

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Aarskog syndrome

Science.gov (United States)

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

The effect of short moderate stress on the midbrain corticotropin-releasing factor system in a macaque model of functional hypothalamic amenorrhea.

Science.gov (United States)

Bethea, Cynthia L; Phu, Kenny; Reddy, Arubala P; Cameron, Judy L

2013-10-01

To study the effect of moderate stress on corticotropin-releasing factor (CRF) components in the serotonergic midbrain region in a monkey model of functional hypothalamic amenorrhea. After characterization of stress sensitivity, monkeys were moved to a novel room and given 20% less chow for 5 days before euthanasia. Primate research center. Female cynomolgus macaques (Macaca fascicularis) characterized as highly stress resilient (HSR, n = 5), medium stress resilient (n = 4), or stress sensitive (SS, n = 4). Five days of diet in a novel room with unfamiliar conspecifics. Density of CRF axons in the serotonergic dorsal raphe nucleus; the number of urocortin 1 (UCN1) cells; the density of UCN1 axons; the expression of CRF receptor 1 (CRF-R1) and CRF-R2 in the dorsal raphe nucleus. The CRF innervation was higher in HSR than in SS animals; UCN1 cell number was higher in HSR than in SS animals and UCN1 axon bouton density was not different; all opposite of nonstressed animals. The CRF-R1 was not different between the sensitivity groups, but CRF-R2 was higher in HSR than in SS animals. The relative expression of CRF-R1 and CRF-R2 was similar to nonstressed animals. The HSR animals respond to stress with an increase in CRF delivery to serotonin neurons. With stress, UCN1 transport decreases in HSR animals. The CRF receptor expression was similar with or without stress. These changes may contribute to resilience in HSR animals. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Cushing's Syndrome

OpenAIRE

宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

2003-01-01

Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

Subcutaneous injection of kisspeptin-54 acutely stimulates gonadotropin secretion in women with hypothalamic amenorrhea, but chronic administration causes tachyphylaxis.

Science.gov (United States)

Jayasena, Channa N; Nijher, Gurjinder M K; Chaudhri, Owais B; Murphy, Kevin G; Ranger, Amita; Lim, Adrian; Patel, Daksha; Mehta, Amrish; Todd, Catriona; Ramachandran, Radha; Salem, Victoria; Stamp, Gordon W; Donaldson, Mandy; Ghatei, Mohammad A; Bloom, Stephen R; Dhillo, Waljit S

2009-11-01

Kisspeptin is a critical regulator of normal reproductive function. A single injection of kisspeptin in healthy human volunteers potently stimulates gonadotropin release. However, the effects of kisspeptin on gonadotropin release in women with hypothalamic amenorrhea (HA) and the effects of repeated administration of kisspeptin to humans are unknown. The aim of this study was to determine the effects of acute and chronic kisspeptin administration on gonadotropin release in women with HA. We performed a prospective, randomized, double-blinded, parallel design study. Women with HA received twice-daily sc injections of kisspeptin (6.4 nmol/kg) or 0.9% saline (n = 5 per group) for 2 wk. Changes in serum gonadotropin and estradiol levels, LH pulsatility, and ultrasound measurements of reproductive activity were assessed. On the first injection day, potent increases in serum LH and FSH were observed after sc kisspeptin injection in women with HA (mean maximal increment from baseline within 4 h after injection: LH, 24.0 +/- 3.5 IU/liter; FSH, 9.1 +/- 2.5 IU/liter). These responses were significantly reduced on the 14th injection day (mean maximal increment from baseline within 4 h postinjection: LH, 2.5 +/- 2.2 IU/liter, P < 0.05; FSH, 0.5 +/- 0.5 IU/liter, P < 0.05). Subjects remained responsive to GnRH after kisspeptin treatment. No significant changes in LH pulsatility or ultrasound measurements of reproductive activity were observed. Acute administration of kisspeptin to women with infertility due to HA potently stimulates gonadotropin release, but chronic administration of kisspeptin results in desensitization to its effects on gonadotropin release. These data have important implications for the development of kisspeptin as a novel therapy for reproductive disorders in humans.

Polycystic ovary syndrome and metabolic syndrome.

Science.gov (United States)

Ali, Aus Tariq

2015-08-01

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

Disease: H01607 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available onbreastfeeding woman. The condition is more common in women who are 20 to 35 years of age and in previously parous women.... It is less common in children and nulligravid women. Galactorrhea ...ced with a medication from a similar class with lower potential for causing hyperprolactinemia. For women wh

Tourette syndrome

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Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

Metabolic syndrome in acute coronary syndrome

International Nuclear Information System (INIS)

Bhalli, M.A.; Aamir, M.; Mustafa, G.

2011-01-01

Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

Metabolic syndrome in acute coronary syndrome

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Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

2011-06-15

Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

Exogenous Cushing syndrome

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Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

Targets to treat metabolic syndrome in polycystic ovary syndrome.

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Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2015-01-01

Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

Targets to treat metabolic syndrome in polycystic ovary syndrome

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Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2016-01-01

Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

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Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Milk-alkali syndrome

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Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

Marfan Syndrome

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Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

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Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

Effects of an oral contraceptive (norgestimate/ethinyl estradiol) on bone mineral density in women with hypothalamic amenorrhea and osteopenia: an open-label extension of a double-blind, placebo-controlled study.

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Warren, Michelle P; Miller, K K; Olson, W H; Grinspoon, S K; Friedman, A J

2005-09-01

The effects of long-term triphasic oral contraceptive administration on bone mineral density (BMD) were investigated in premenopausal women with hypothalamic amenorrhea (HA) and osteopenia. After completing three 28-day cycles in the double-blind phase of a placebo-controlled trial, women (mean age, 26.7 years) who received norgestimate 180-250 microg/ethinyl estradiol 35 microg (NGM/EE, n = 15) or placebo (n = 12) in the double-blind phase were to receive open-label NGM/EE for 10 additional cycles. For subjects completing > or =10 NGM/EE treatment cycles, mean posteroanterior total lumbar spine BMD (L1-L4) increased from 0.881+/-0.0624 g/cm2 at baseline (last visit prior to NGM/EE) to 0.894+/-0.0654 g/cm2 at final visit (p = .043); no significant changes in hip BMD occurred. Decreases in N-telopeptide, osteocalcin, procollagen type I propeptide and bone-specific alkaline phosphatase levels indicated effects on bone metabolism. Long-term administration of triphasic NGM/EE to osteopenic women with HA may increase total lumbar spine BMD.

Loeys-Dietz Syndrome

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... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

Comparison of bone density in amenorrheic women due to athletics, weight loss, and premature menopause.

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Jones, K P; Ravnikar, V A; Tulchinsky, D; Schiff, I

1985-07-01

Studied was the peripheral bone density of 39 women (ages 18 to 43) with the diagnosis of secondary amenorrhea in an effort to define the population of amenorrheic women at risk for osteoporosis. Eight women had exercise-induced amenorrhea (athletes), 20 women had amenorrhea associated with weight loss, and 11 women had premature menopause. These diagnoses were made on the basis of history, physical examination, and luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin levels, and failure to have withdrawal bleeding after the administration of progestin. Twenty-five nonathletic, normally menstruating women served as control subjects. The peripheral bone density of the amenorrheic athletes (0.738 g/cm2 +/- 0.047) was not significantly different from that of the controls (0.726 g/cm2 +/- 0.044). The average bone density of the group with weight loss-associated amenorrhea (0.672 g/cm2 +/- 0.066) was significantly less than controls (P less than .005) as was that of the women with premature menopause (0.616 g/cm2 +/- 0.048, P less than .001). There was a significant correlation between months of amenorrhea and decrease in bone density (r = 0.506, P less than .001). From this study it was concluded that women with exercise-associated amenorrhea are not at significant risk for cortical bone loss as measured by direct photon absorptiometry. Women with weight loss-associated amenorrhea and women with premature menopause are at significant risk for bone loss when compared with normal controls.

Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia.

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Khorashad, Behzad S; Roshan, Ghasem M; Reid, Alistair G; Aghili, Zahra; Hiradfar, Mehran; Afkhamizadeh, Mozhgan; Talaei, Ali; Aarabi, Azadeh; Ghaemi, Nosrat; Taghehchian, Negin; Saberi, Hedieh; Farahi, Nazanin; Abbaszadegan, Mohammad Reza

2017-01-01

To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents. Five percent of CAH participants and 42% of CAIS participants were in a relationship, which was significantly different. All CAH individuals had been diagnosed at birth; 89% of CAIS had been diagnosed after puberty and due to primary amenorrhea and 11% were diagnosed in childhood due to inguinal hernia. Genital reconstructive surgery had been performed in 100% of CAH participants and 37% of CAIS. Regarding sexual contact experiences and sexual fantasies (androphilic, gynephilic or both), no significant differences were found. However, CAH females had significantly more gynephilic dreams (P=0.045). This study, notable as one of the rare from a non-western culture, described sexual, medical and socioeconomic status of 46,XX CAH and 46,XY CAIS individuals living in Iran. Although broadly in line with previous findings from Western cultures, Iranian CAH individuals had fewer romantic relationships, but in contrast to previous studies their sexual orientation was only different from CAIS in the contents of sexual dreams. Copyright © 2016 Elsevier Inc. All rights reserved.

Pre-Menstrual Syndrome in Women with Down Syndrome

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Mason, Linda; Cunningham, Cliff

2009-01-01

Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

Williams syndrome

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Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

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Azadeh Mashayekhi

2016-01-01

Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

Transition from the Lactational Amenorrhea Method to other modern family planning methods in rural Bangladesh: barrier analysis and implications for behavior change communication program intervention design.

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Kouyaté, Robin Anthony; Ahmed, Salahuddin; Haver, Jaime; McKaig, Catharine; Akter, Nargis; Nash-Mercado, Angela; Baqui, Abdullah

2015-06-01

The timely transition from Lactational Amenorrhea Method (LAM)(2) to another modern family planning method contributes to healthy spacing of pregnancies by increasing the adoption of family planning during the first year postpartum. Yet, literature suggests challenges in completing a timely LAM transition. To guide program implementation in Bangladesh, this study identified factors influencing women's transition decisions. Eighty postpartum women, comprising 40 who transitioned from LAM(3) and 40 who did not,(4) participated. Half of each group participated in in-depth interviews to explore the decision-making process. All participants responded to a "Barrier Analysis" questionnaire to identify differences in eight behavioral determinants. More than half of transitioners switched to another modern method before or within the same month that LAM ended. Of the 18 transitioners who delayed,(5) 15 waited for menses to return. For non-transitioners, key barriers included waiting for menses to return, misconceptions on return to fertility, and perceived lack of familial support. The LAM transition can help women prevent unintended pregnancy during the first year postpartum. Increased emphasis on counseling women about the risk of pregnancy, and misconceptions about personal fertility patterns are critical for facilitating the transition. Strategies should also include interventions that train health workers and improve social support. Copyright © 2015. Published by Elsevier Ltd.

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

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Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

2016-06-01

Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

Aicardi Syndrome

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... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

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Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

2008-04-01

We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

Down Syndrome

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... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

TAFRO Syndrome.

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Igawa, Takuro; Sato, Yasuharu

2018-02-01

TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

The Health of Competitive Fitness Athletes

Science.gov (United States)

2018-03-28

Resting Metabolic Rate; Bone Mineral Density, Low, Susceptibility to; Body Image; Perfectionism; Depression; Eating Disorder; Exercise-Related Amenorrhea; Exercise Addiction; Binge Eating; Dietary Amenorrhea; Dietary Deficiency

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

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Dammeyer, Jesper

2012-09-01

Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

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Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

2017-01-01

An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

Wolf-Hirschhorn (4p-) syndrome with West syndrome.

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Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

2016-01-01

Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

Rowell syndrome

Directory of Open Access Journals (Sweden)

Ramesh Y Bhat

2014-01-01

Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

[Poland's syndrome].

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Slezak, R; Sasiadek, M

2000-08-01

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

Polymorphism of the vitamin D3 receptor gene and bone mineral density in girls with functional hypothalamic amenorrhea subjected to oestroprogestagen treatment.

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Sowińska-Przepiera, Elżbieta; Andrysiak-Mamos, Elżbieta; Syrenicz, Justyna; Jarząbek-Bielecka, Grażyna; Friebe, Zbigniew; Syrenicz, Anhelli

2011-01-01

We investigated whether the vitamin D3 receptor gene (VDR) polymorphism can modulate therapeutic response of functional hypothalamic amenorrhea (FHA) patients to the oestroprogestagen (EP) treatment. The study included 84 FHA girls and 50 controls. FHA patients underwent a four-year sequential EP therapy with 17-β oestradiol (2 mg from the 2(nd) to 25(th) day of the menstrual cycle) and didrogesterone (10 mg from the 16(th) to the 25(th) day). Their hormonal parameters were monitored along with bone turnover marker levels and bone mineral density (BMD). Additionally, the VDR gene BsmI polymorphism was determined. Hormonal therapy was reflected by a substantial improvement of BMD. However, the values of BMD observed after four years of treatment in FHA patients were still significantly lower than baseline bone mineral density determined in the control group (1.007 ± 0.100 vs. 1.141 ± 0.093 g/cm(2), respectively; p < 0.001). No significant effects of the VDR genotype were observed on the dynamics of BMD during consecutive years of hormonal treatment and mean bone mineral density determined after completing the therapy (1.006 ± 0.101 vs. 1.013 ± 0.114 vs. 1.006 ± 0.094 g/cm(2) for BB, bb and Bb genotypes, respectively; p = 0.973). This study did not confirm that VDR polymorphism can modulate therapeutic outcome of FHA girls subjected to the hormonal treatment. Nonetheless, this study confirmed the effectiveness of EP therapy in the simultaneous treatment of menstrual disorders and the normalisation of bone mineral density in FHA patients.

[Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

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Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

2009-01-01

The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

Burning Mouth Syndrome and "Burning Mouth Syndrome".

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Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

Marfan Syndrome (For Teens)

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... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

Learning about Marfan Syndrome

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... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

Divorce in families of children with Down Syndrome or Rett Syndrome.

Science.gov (United States)

Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

2015-05-01

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

The sick-building syndrome; Das Sick-Building-Syndrom

Energy Technology Data Exchange (ETDEWEB)

Henne, A.; Neumann, H.F.; Winneke, G.

1992-12-31

The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

Chemotherapy-Related Amenorrhea and Menopause in Young Chinese Breast Cancer Patients: Analysis on Incidence, Risk Factors and Serum Hormone Profiles

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Liem, Giok S.; Mo, Frankie K. F.; Pang, Elizabeth; Suen, Joyce J. S.; Tang, Nelson L. S.; Lee, Kun M.; Yip, Claudia H. W.; Tam, Wing H.; Ng, Rita; Koh, Jane; Yip, Christopher C. H.; Kong, Grace W. S.; Yeo, Winnie

2015-01-01

Purpose In this prospective cross-sectional study on young premenopausal breast cancer patients, the objectives were to: determine the incidences of chemotherapy-related amenorrhea (CRA) and menopause (CRM); identify associated factors; and assess plasma levels of estradiol (E2) and follicular stimulating hormone (FSH) among patients who developed menopause. Methods Eligibility criteria include Chinese stage I-III breast cancer patients, premenopausal, age ≤45 at breast cancer diagnosis, having received adjuvant chemotherapy, within 3–10 years after breast cancer diagnosis. Detailed menstrual history prior to and after adjuvant treatment was taken at study entry. Patients’ background demographics, tumor characteristics and anti-cancer treatments were collected. The rates of CRA and CRM were determined. Analysis was conducted to identify factors associated with CRM. For postmenopausal patients, levels of E2 and FSH were analyzed. Results 286 patients were recruited; the median time from breast cancer diagnosis to study entry was 5.0 years. 255 patients (91.1%) developed CRA. Of these, 66.7% regained menstruation. At the time of study entry, 137 (48.9%) had developed CRM, amongst whom 84 were age ≤45. On multivariate analysis, age was the only associated factor. Among patients with CRM, the median FSH was 41.0 IU/L; this was significantly lower in those who were taking tamoxifen compared to those who were not (20.1 vs. 59.7 IU/L, p<0.0001). The E2 level was <40 pmol/L; there was no difference between those who were still on tamoxifen or not. Conclusion After adjuvant chemotherapy, the majority of young Chinese breast cancer patients developed CRA; ~50% developed CRM, with 61% at age ≤45. Age at diagnosis is the only factor associated with CRM. FSH level may be affected by tamoxifen intake. PMID:26485568

Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?

OpenAIRE

Robb, J D; Delargy, M A; Nolan, M; Tomkin, G H

1984-01-01

The difficulties in the diagnosis of hypokalaemia are often considerable. This paper reports three patients who presented with hypokalaemia. Investigations are described which may help to distinguish Bartter's syndrome from pseudo-Bartter's syndrome.

Syndromes with supernumerary teeth.

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Lubinsky, Mark; Kantaputra, Piranit Nik

2016-10-01

While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

What Is Usher Syndrome?

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... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

"Mixed germ cell testicular tumor" in an adult female

Directory of Open Access Journals (Sweden)

Udasimath Shivakumarswamy

2012-01-01

Full Text Available The androgen insensitivity (testicular feminization syndrome was described by Morris in phenotypic females with 46XY karyotype, presenting with primary amenorrhea, adequate breast development, and absent or scanty pubic or axillary hair. Gonads consist usually of seminiferous tubules without spermatogenesis. These patients have a 5-10% risk of developing germ cell tumors, usually after the complete development of secondary female sexual characteristics. We hereby report a case considered as a female with married life of 15 years, who was operated for severe abdominal pain. Phenotype characters were that of female. Microscopic examination of the tumor from the abdomen revealed germinoma and yolk sac tumor with adjacent seminiferous tubules. Karyotyping showed 46XY. Final diagnosis of malignant mixed germ cell tumor in androgen insensitivity syndrome was made. Surveillance may be the most appropriate option when these conditions are initially diagnosed in adulthood to prevent development of germ cell tumors.

Reduced bone mineral density in adult women diagnosed with menstrual disorders during adolescence.

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Wiksten-Almströmer, Marianne; Hirschberg, Angelica Lindën; Hagenfeldt, Kerstin

2009-01-01

To evaluate the long-term effects on bone mineral density (BMD) in women diagnosed with menstrual disorders in their adolescence. Prospective follow-up study six years after the initial investigation. A youth clinic that is part of the school health system in Stockholm. Eighty-seven women diagnosed with secondary amenorrhea or oligomenorrhea in adolescence. Subjects underwent gynecological examination, evaluation of eating behavior and physical activity. Whole body Dual Energy X-ray Absorptiometry was used for measurement of BMD. BMD. The overall frequency of osteopenia/osteoporosis was 52%, and three girls had osteoporosis. Women with previous secondary amenorrhea had significantly lower BMD in the pelvis and lumbar spine than those with previous oligomenorrhea. The strongest predictor of low BMD was a restrictive eating disorder in adolescence and the most important counteraction was high physical activity at follow-up and a body mass index (BMI) > or = 22. Persistent menstrual dysfunction at follow-up was associated with polycystic ovary syndrome and lower frequency of osteopenia. This clinical follow-up study has demonstrated a high frequency of osteopenia in women diagnosed with menstrual disorders in adolescence. Previous anorectic behavior was the strongest negative predictor of BMD. It is important to pay attention to an underlying eating disorder in young women with menstrual dysfunction in order to promote bone health.

Emergency contraceptive pills as a backup for lactational amenorrhea method (LAM) of contraception: a randomized controlled trial.

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Shaaban, Omar M; Hassen, Shaimaa G; Nour, Sanna A; Kames, Mervat A; Yones, Entsar M

2013-03-01

The use of breastfeeding as a method of birth spacing occasionally ends in "unplanned pregnancy." This is due to unexpected expiration of one or more of the lactation amenorrhea method (LAM) prerequisites. The current study tests a new concept that the in-advance provision of single packet of progestogen emergency contraception (EC) pills during the postpartum LAM counseling may decrease the incidence of unplanned pregnancy during breastfeeding. This was a registered two-armed randomized controlled trial (NCT 01111929). Women intending to breastfeed and to postpone pregnancy for 1 year or more were approached. They received adequate postpartum contraceptive counseling. Women intending to use LAM were randomly assigned to one of two groups. The LAM-only group received the proper LAM counseling and did not receive counseling about EC. The LAM-EC group received counseling for both LAM and EC with in-advance provision of one packet of EC pills. They were advised to use these pills if one of the prerequisites of LAM expires and sexual relation has occurred before the initiation of another regular contraceptive protection. All the participants were advised that they need to use another regular method upon expiration of any of the LAM prerequisites. Eligible women were 1158 parturients randomized into two equal groups. Forty-four percent of the women provided with EC used them. Significantly more women in the LAM-EC group initiated regular contraception within or shortly after the first 6 months postpartum when compared with those in the LAM-only group (30.5% vs. 7.3%, respectively; p=.0004). Pregnancy occurred in 5% of the LAM-only group as compared with 0.8% in the LAM-EC group (p=.005). Minimal side effects were reported after EC use. In-advance provision of EC pills can increase the rate of initiation of regular contraception once one or more of the prerequisites of LAM expire. Consequently, the use of EC pills as a temporary backup of LAM can decrease the incidence

Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

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Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

2017-06-01

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

Lactational Infertility- A Review

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Ramachandran Prema

1987-01-01

Full Text Available Studies undertaken by the National Institute of Nutrition during the last 10 years indicate that prolonged breast-feeding is still the rule among rural and urban low income group population in Hyderabad. Lactation induced hyperprolactinaemia prolongs postpartum amenorrhea and inter pregnancy interval by about 6 months. Duration of lactational amenorrhea infants results in a fall of plasma prolactin levels and rapid return of menstruation and fertility. Lactational amenorrhea lasts longer in undernourished women with low body weight and low fat fold rural women, duration of lactational amenorrhea is longer as compared to urban women. This might be partly attributable to the delay in introduction of supplements to the rural infants and partly to the lower body weight and fat fold thickness of rural women.

PvuII and XbaI polymorphisms of estrogen receptor-α and the results of estroprogestagen therapy in girls with functional hypothalamic amenorrhea - preliminary study.

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Sowińska-Przepiera, Elżbieta; Syrenicz, Anhelli; Friebe, Zbigniew; Jarząbek-Bielecka, Grażyna; Chełstowski, Kornel

2012-11-09

The aim of this study was the long-term prospective evaluation of the effects of estroprogestagen (EP) therapy on the bone mineral density (BMD) of girls with functional hypothalamic amenorrhea (FHA) carrying various PvuII and XbaI polymorphisms of ER-α. Prospective observation included 84 FHA girls and 50 controls. The FHA patients were subjected to 4-year sequential therapy with 17β estradiol (2 mg from the 2(nd) to 25(th) day of the menstrual cycle) and dydrogesterone (10 mg from the 16(th) to the 25(th) day). Hormonal parameters, serum concentration of the bone fraction of alkaline phosphatase (BALP), urine concentration of cross-linked n-telopeptide of type I collagen (Ntx) and BMD were determined before and after the treatment. Six-month treatment resulted in a marked increase in estradiol (p = 0.001), testosterone and prolactin levels (p = 0.01 both) and a significant decrease in BALP and Ntx (p = 0.001 both). Patients with the PP polymorphism had significantly lower baseline BMD compared to carriers of other polymorphic variants of PvuII (p = 0.003). A significant increase in BMD was observed throughout the entire therapy period, with no significant differences in the yearly dynamics of BMD changes observed amongst various polymorphic variants and haplotypes of ER-α. The EP therapy is effective in the treatment of BMD disorders associated with FHA, and treatment results do not depend on PvuII and XbaI polymorphisms of ER-α.

Toxic shock syndrome

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Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome.

Science.gov (United States)

Nakamura, Tomomi; Tsuburai, Taku; Tokinaga, Aya; Nakajima, Izumi; Kitayama, Reiko; Imai, Yuichi; Nagata, Tomoko; Yoshida, Hiroshi; Hirahara, Fumiki; Sakakibara, Hideya

2015-01-01

Estrogen replacement therapy (ERT) is necessary for uterine development and bone mass acquisition in women with Turner syndrome (TS) suffering from ovarian insufficiency. However, adequate ERT regimens have not yet been established. The aim of this study was to evaluate the efficacy of ERT for both uterine development and bone mass acquisition. One hundred TS patients from Yokohama City University Hospital (88 with primary amenorrhea (PA) and 12 patients with spontaneous menstrual cycles (MC)) were enrolled after obtaining consent. Clinical profiles, uterine length (UL) measured by ultrasonic examination, and bone mineral density (BMD) of the lumbar vertebrae (L2-4) assessed by DEXA were evaluated. At the time of the first visit, the ULs of patients in the PA group were significantly shorter than those in the MC group. After receiving ERT, there were no significant differences in UL between patients with PA and MC. Forty-seven patients for whom the ERT initiation age was known were investigated to clarify the influence on BMD. The results showed that the BMD in the late initiation (18 years or older) group at the latest visit (0.770 ± 0.107 g/cm2: n = 16) was significantly lower than that in the early initiation (under 18 years) group (0.858 ± 0.119 g/cm2: n = 21) or the MC group (0.941 ± 0.118 g/cm2: n = 10). No significant differences were seen between the early initiation and MC group. ERT was effective in increasing UL and BMD. However, early initiation of ERT is necessary to increase BMD.

The Prevalence of Polycystic Ovary Syndrome (PCOS in High School Students in Rasht in 2009 According to NIH Criteria

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Maryam Asgharnia

2011-01-01

Full Text Available Background: Polycystic ovary syndrome (PCOS is the most common endocrine disorder inwomen associated with many reproductive, endocrine, metabolic and cardiovascular dysfunctions.This study aimed to determine the prevalence of PCOS among high school students in Rasht.Materials and Methods: In a cross–sectional study, 1850 students were selected by a multi-stage clustersampling from all high schools in Rasht. The inclusion criteria were: age 17-18 years, menarche from10-16 years, normal prolactin and thyroid stimulating hormone (TSH values, no history of anatomicalmalformation, no use of medication or hair-removal techniques, and a history of oligo- or amenorrhea.PCOS was diagnosed if both menstrual dysfunction and clinical hyperandrogenism were detected.Results: Mean age of subjects was 17.2 ± 0.7 years and the age of menarche was 12.8 ± 0.9 years. Ofall students, 378 (20.4% had oligomenorrhea and PCOS was diagnosed in 210 (11.34 % accordingto the National Institute of Health (NIH definition. PCOS subjects, mean body mass index (BMI,waist circumference, and waist/hip (W/H ratio were 21.1 ± 3.6, 73.4 ± 8.0 cm and 0.77 ± 0.05,respectively. A family history of diabetes mellitus type 2 was reported in 24.7% of subjects.Conclusion: The prevalence of PCOS in this study was similar to the international estimatesof 10-20% in Caucasians. A long-term follow-up is needed to compare the accuracy of clinicaldetermination of the disease versus diagnosis based on hormonal and/or sonographic assessments.

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

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Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

Prospective, randomized comparison between pulsatile GnRH therapy and combined gonadotropin (FSH+LH) treatment for ovulation induction in women with hypothalamic amenorrhea and underlying polycystic ovary syndrome.

Science.gov (United States)

Dubourdieu, Sophie; Fréour, Thomas; Dessolle, Lionel; Barrière, Paul

2013-05-01

To compare the efficacy of pulsatile GnRH therapy versus combined gonadotropins for ovulation induction in women with both hypothalamic amenorrhoea and polycystic ovarian syndrome (HA/PCOS) according to their current hypothalamic status. This single-centre, prospective, randomized study was conducted in the Nantes University Hospital, France. Thirty consecutive patients were treated for ovulation induction with either pulsatile GnRH therapy or combined gonadotropins (rFSH+rLH). Frequency of adequate ovarian response (mono- or bi-follicular) and clinical pregnancy rate were then compared between both groups. Ovarian response was similar in both groups with comparable frequency of adequate ovarian response (73% vs 60%), but the clinical pregnancy rate was significantly higher in the pulsatile GnRH therapy group than in the combined gonadotropin group (46% vs 0%). HA/PCOS is a specific subgroup of infertile women. Pulsatile GnRH therapy is an effective and safe method of ovulation induction that can be used successfully in these patients. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Management of moyamoya syndrome in patients with Noonan syndrome.

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Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

OpenAIRE

Hill, Elizabeth A.

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

What is Metabolic Syndrome?

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... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

Evidence for a causal role of low energy availability in the induction of menstrual cycle disturbances during strenuous exercise training.

Science.gov (United States)

Williams, N I; Helmreich, D L; Parfitt, D B; Caston-Balderrama, A; Cameron, J L

2001-11-01

Cross-sectional and short-term prospective studies in humans support the concept that low energy availability, and not other factors associated with exercise, causes the development of exercise-induced reproductive dysfunction. To rigorously test this hypothesis, we performed a longitudinal study, examining the role of low energy availability on both the development and the reversal of exercise-induced amenorrhea, using a monkey model (Macaca fascicularis). Eight adult female monkeys developed amenorrhea (defined as absence of menses for at least 100 d, with low and unchanging concentrations of LH, FSH, E2, and P4) after gradually increasing their daily exercise to 12.3 +/- 0.9 km/d of running over a 7- to 24-month period. Food intake remained constant during exercise training. To test whether amenorrhea is caused by low energy availability, four of the eight amenorrheic monkeys were provided with supplemental calories (138-181% of calorie intake during amenorrhea) while they maintained their daily training. All four monkeys exhibited increased reproductive hormone levels and reestablished ovulatory cycles, with recovery times for circulating gonadotropin levels ranging from 12-57 d from the initiation of supplemental feeding. The rapidity of recovery within the reproductive axis in a given monkey was directly related to the amount of energy that was consumed during the period of supplemental feeding (r = -0.97; P amenorrhea (P exercise-induced amenorrhea.

Prune belly syndrome

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Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

Gorlin-goltz syndrome

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B V Shobha

2011-01-01

Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

[Psychogenic amenorrhea].

Science.gov (United States)

Lachowsky, M; Winaver, D

2007-01-01

Any amenorrhoea noticed outside pregnancy, lactation and menopause periods might be of organic or functional origin. Today, non organic amenorrhoea are either called hypothalamic amenorrhoea, more exactly supra hypothalamic amenorrhoea; functional amenorrhoea--this definition being characterized by its lack of any anatomic substratum; or, psychogenic amenorrhoea--an etiologic definition. Like any amenorrhoea, functional or psychogenic amenorrhoea is the consequence of either anovulation or endometrial hypotrophy. Neuroendocrine sciences do open new exciting research perspectives but other ways all the more promising since hormonal mechanics would not be the explanation. Work on the unconscious is indeed the other road leading to these psychogenic amenorrhoea. The term "psychogenic"--of psychological origin--does not mean of unknown origin, provided we recognize the strong link between psyche and soma. Treatment for this kind of amenorrhoea is twofold: medical and psychotherapeutic. Even though psychological etiology is obvious, clinical examination must be rigorous and completed by complementary exams which will guide the therapeutics. This is reassuring to the patient for the gynaecologist she chose to consult is implied, and not the psychotherapist. This reassures us too, because what we care for, as doctors, is first of all the body. Psychotherapeutic support can be provided by the general practitioner or the gynaecologist, both with psychosomatics training, but a multidisciplinary approach must often be worked out.

Refeeding syndrome

OpenAIRE

Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

2008-01-01

Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes （hypokala...

Nevoid basal cell carcinoma syndrome

Science.gov (United States)

NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

The wellness syndrome

DEFF Research Database (Denmark)

Mik-Meyer, Nanna

2015-01-01

Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

Turner Syndrome: Other FAQs

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... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

Bardet-Biedl syndrome and Usher syndrome.

Science.gov (United States)

Koenig, Rainer

2003-01-01

Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

Abdominal compartment syndrome with acute reperfusion syndrome

International Nuclear Information System (INIS)

Maleeva, A.

2017-01-01

Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

Science.gov (United States)

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Roberts-SC syndrome, a rare syndrome and cleft palate repair

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Murthy Jyotsna

2008-01-01

Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

Sjogren-Larsson Syndrome

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... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

Redefining syndromic surveillance

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Rebecca Katz

2011-12-01

Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

Gorlin-Goltz Syndrome

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Padma Pandeshwar

2012-01-01

Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

Sjögren syndrome

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Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

Marfan Syndrome (For Parents)

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... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

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Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

2012-10-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

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N K Kiran

2012-01-01

Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

``Battered child`` syndrome; Das ``Battered-Child``-Syndrom

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Elsner, K.; Merk, J.; Sokiranski, R. [Ulm Univ. (Germany). Abt. Diagnostische Radiologie

1997-10-01

Synonyms for the `battered child` syndrome (BCS) are terms describing the physical and body aspects of the process, such as `child abuse`, or `non-accidental injury`. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [Deutsch] Als Synonym fuer das `Battered-Child`-Syndrom (BCS) stehen die Begriffe der koerperlichen-/physikalischen-Kindesmisshandlung, im angelsaechsischen Sprachraum die Begriffe `Child Abuse` und `Nonaccidental Injury`. Vom Syndrom abzugrenzen sind die seelische Misshandlung, die seelische und koerperliche Vernachlaessigung, und der sexuelle Missbrauch. Kombinationsformen sind nicht selten. Bei der Diagnostik des Syndroms spielt die Radiologie eine entscheidende Rolle. So hilft der Einsatz adaequater Untersuchungsmethoden, den Tatbestand der Misshandlung zu identifizieren und zu dokumentieren, aber auch einen Verdacht zu widerlegen. (orig./AJ)

Menopause

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... NICHD Research Information Find a Study More Information Amenorrhea About NICHD Research Information Find a Study More ... What are common symptoms? » Related A-Z Topics Amenorrhea Menstruation and Menstrual Problems Women's Health NICHD News ...

How Do Health Care Providers Diagnose Menstrual Irregularities?

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... NICHD Research Information Find a Study More Information Amenorrhea About NICHD Research Information Find a Study More ... 291. Master-Hunter, T., & Heiman, D. L. (2006). Amenorrhea: Evaluation and treatment. American Family Physician , 73, 1374– ...

Hepatorenal syndrome

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... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...