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[Hyperandrogenic forms of the premenstrual syndrome]. | LitMetric

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Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive inheritance; it was historically known as adrenogenital syndrome. Patients with virilizing forms of CAH and a 46,XX karyotype present with varied degrees of hyperandrogenism due to different genetic defects in the adrenal steroidogenesis pathway. This comprehensive review describes a simplified diagnostic approach for patients with atypical genitalia and 46, XX DSD.

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Article Synopsis
  • * Clinical manifestations of CAH vary widely, from severe salt-wasting forms risking adrenal crisis to milder forms that show hyperandrogenism without major hormonal deficiencies.
  • * CAH in 46,XX fetuses can cause excessive androgen exposure, resulting in virilization and potential complications with gender identity and fertility later in life, raising considerations for gender transition decisions.
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Objectives: To study the clinical and genotypic spectrum of patients with deletions (MODY 5) at a tertiary care hospital.

Methods: This study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done.

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  • - Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder affecting 10-13% of women and can lead to serious health issues like infertility, acne, and metabolic disorders, influenced by genetic and hormonal factors.
  • - Lifestyle changes, particularly dietary modifications, are emphasized as critical components of treatment according to Russian health recommendations, with diets like the Mediterranean, DASH, ketogenic, and low-carb being the most effective.
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Aims: Pathogenic variants in the gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still unclear. Moreover, the possible associations of different gene polymorphisms with metabolic and reproductive abnormalities in PCOS have not been investigated.

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