The role of genetic and epigenetic factors in developing polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is one of the most common endocrine and metabolic disorders in women of reproductive age, affecting health throughout the lifespan. The etiology of this condition includes genetic factors such as polymorphisms of the CYP11A1 , CYP17A1 , and DENND1A genes-related epigenetic mechanisms (including promoter methylation of genes associated with steroid hormone synthesis and insulin signaling, as well as the role of microRNAs in regulating folliculogenesis and hyperandrogenism), and environmental cues (diet, stress, and exogenous toxins). Together, these mechanisms lead to dysregulated steroidogenesis, hyperandrogenism, anovulation, and insulin resistance, resulting in heterogeneous clinical phenotypes. The aim of this review is to comprehensively analyze current evidence on the role played by genetic and epigenetic factors in PCOS development and to explore potential application of such findings for improving early diagnosis and developing novel therapeutic approaches.