Article
Variant-specific contributions of CYP21A2 and CYP11B1 to the clinical and hormonal heterogeneity of polyendocrine metabolic ovarian syndrome phenotypes.
Molecular biology reports - 31 Jul 2026
Polat Seher, Simsek Yasin
Abstract excerpt
BACKGROUND: Polyendocrine Metabolic Ovarian Syndrome (PMOS) formerly known as Polycystic Ovary Syndrome (PCOS), characterized by hyperandrogenism, affects approximately 7.1-15.1% of women of reproductive age. While disease-causing CYP21A2 and CYP11B1 variants are well-studied, the contribution of synonymous variants to clinical and hormonal variations remains unclear. This study investigated whether synonymous...
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