Abstract

Polycystic Ovary Syndrome (PCOS) is a complex gynaecological, metabolic, and endocrine disorder that affects women of reproductive age. Characterized by hyperandrogenism, menstrual irregularities, and multiple cysts in the ovaries, it has a significant genetic component. This review explores key genes implicated in the pathophysiology of PCOS, including those involved in steroidogenesis, insulin resistance, inflammation, and metabolic dysfunction. Genes such as CYP11A1 and CYP17 are linked to hyperandrogenism, while variations in FSHR and LH receptor genes contribute to ovulatory dysfunction and anovulation. Insulin resistance, a hallmark of PCOS, is influenced by mutations in genes like INSR, IRS1, and PPAR-γ, which affect insulin signalling and glucose metabolism. Additionally, genetic variations in FTO and MC4R are associated with obesity and metabolic syndrome in PCOS patients. It also involves chronic low-grade inflammation, with TNF-α and IL-6 genetic polymorphisms playing a role. Hormonal imbalances, including disrupted feedback loops between the hypothalamus, pituitary gland, and ovaries, are linked to genetic changes in GNRHR and FSHB. While mutations in BRCA1 and 2 and CYP11B2 are not directly associated with PCOS, they may influence related reproductive and metabolic processes. Current treatment options focus on lifestyle modifications, insulin sensitizers, and hormonal therapies, but future research aims to develop personalized treatments based on genetic findings, enhancing the management of PCOS and reducing long-term health risks.