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Endocrinology Gonadal Disorders

Gonadal Disorders

The many faces of PCOS

Examine the clinical and genetic data on familial clustering of PCOS features in both women and men, and discover the evidence supporting the existence of a male equivalent of PCOS.

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Editor's Choice

Clinical utility of anti-Müllerian hormone in female children and adolescents

AMH is considered a valuable tool for the evaluation of conditions such as polycystic ovary syndrome, precocious puberty, differences in sex development, and primary ovarian insufficiency.

Mild familial partial lipodystrophy in a patient with a lamin gene mutation

A 38-year-old woman underwent genetic testing for suspected Brugada syndrome, but a missense mutation in the LMNA gene and the presence of suggestive traits led to a diagnosis of familial partial lipodystrophy type 2.

Inositols and female reproductive disorders

Consensus statement from the women’s endocrinology working group of the SIE on the use of inositols across four key domains: menses irregularity and anovulation, fertility, pregnancy outcomes, and neonatal outcomes.

Strumal carcinoid tumor of the ovary

Salpingo-oophorectomy was performed after 15 years’ surveillance of an ovarian dermoid cyst in a female with type 2 diabetes. The removed ovary contained a mature cystic teratoma and a discrete solid nodule.

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Case Studies

Mild familial partial lipodystrophy in a patient with a lamin gene mutation

A 38-year-old woman underwent genetic testing for suspected Brugada syndrome, but a missense mutation in the LMNA gene and the presence of suggestive traits led to a diagnosis of familial partial lipodystrophy type 2.

Strumal carcinoid tumor of the ovary

Salpingo-oophorectomy was performed after 15 years’ surveillance of an ovarian dermoid cyst in a female with type 2 diabetes. The removed ovary contained a mature cystic teratoma and a discrete solid nodule.

HNF1A gene mutations and primary ovarian failure

HNF1A mutations are responsible for maturity-onset diabetes of the young (MODY). Coexistence of POF and MODY 3 in an adolescent girl raised the idea that these mutations might also have a role in POF.

Current Reviews

Hyperandrogenism in polycystic ovary syndrome and adrenal hyperplasia: finding differences to make a specific diagnosis

Polycystic ovary syndrome (PCOS) and Adrenal hyperplasia (CAH) are two distinct pathologic conditions that may affect adult women during the fertile age. They represent two common conditions sharing hyperandrogenism as a common hallmark, along …

The effects of different exercises on weight loss and hormonal changes in women with polycystic ovarian syndrome: a network meta-analysis study

Polycystic ovarian syndrome (PCOS) an anovulatory disease is one of the most common endocrine illnesses that affects 5–7% of women in reproductive aging [ 1 , 2 ]. Obesity, insulin resistance (IR) compensatory hyperinsulinemia, sex, and …

Autoimmune thyroid disease and ovarian hypofunction: a review of literature

Thyroid hormones(THs) are essential for the proper functioning of the ovaries, and multiple studies have shown that thyroid abnormalities, especially during adolescence and reproductive age, can lead to lifelong ovarian dysfunction. Autoimmune …

Effect of astaxanthin supplementation on female fertility and reproductive outcomes: a systematic review and meta-analysis of clinical and animal studies

Infertility, which according to the World Health Organization definition is described as “the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse” [ 1 ], impacts approximately 1 in 6 couples …

CME & eLearning

News | Expert Reviews | Cases (Link opens in a new window)

Treating children with hormone disorders is complex and requires tailored management. To help you provide the most effective care, we deliver resources covering adrenal, thyroid, pituitary, growth, and puberty disorders, obesity, and diabetes.

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  • Merck Healthcare KGaA, Darmstadt, Germany
Developed by: Springer Healthcare IME

Further Reading

Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome

Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80–90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading …

Unmet clinical needs in women with polycystic ovary syndrome regarding fertility and obesity: a cross-sectional study from the patient’s perspective

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age, with a prevalence of 6–15%, and is the most common cause of anovulatory infertility [ 1 , 2 ].

BMAL1 improves assisted reproductive technology outcomes in patients with polycystic ovary syndrome by targeting BMP6 and regulating ovarian granulosa cell apoptosis

Polycystic ovary syndrome (PCOS) is a disease of reproductive endocrine and metabolic disorder characterized by ovulatory dysfunction, polycystic ovary morphology, hyperandrogenism, and/or hyperandrogenemia [ 1 , 2 ]. Its complex pathogenesis …

Upregulation of PD-L1 contributes to improving the apoptosis of granulosa cells via the PI3K/AKT pathway in PCOS

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age with an incidence of 6–20% [ 1 ], which is the leading cause of female subfertility and accounts for 80% of anovulatory subfertility [ 2 ]. PCOS is …