An Investigation of Steroid Biosynthesis Pathway Genes in Women with Polycystic Ovary Syndrome

Abstract excerpt

ABSTRACT Background: Polycystic ovary syndrome (PCOS) is a common endocrinopathy whose heterogeneous genetic basis results in a variable clinical presentation. One of the main clinical features of PCOS is hyperandrogenism which occurs due to dysregulation of ovarian and adrenal steroidogenesis. Aims: This study aimed to investigate potentially pathogenic variants in steroidogenic genes associated with PCOS....

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