Review on Molecular and BiochemicalBasis of Polycystic Ovary Syndrome: Interplay of Genetic Polymorphisms,Steroidogenesis, and Insulin Signaling Pathways

Abstract

Polycystic ovary syndrome (PCOS) is a complex disorder that is highly prevalent in many females worldwide. This disorder has a strong genetic component with many candidate genes, including androgen receptor (AR),
follicle-stimulating hormone receptor, m6A demethylase, Calpain protease and several members of the cytochrome P450 family. These genes are mainly related to AR signaling and steroidogenesis enzymes. The exact cause of PCOS is still partly unknown. It is important to understand genetic predispositions to understand risk factors and possible therapeutic targets. Metabolic and hormonal pathways are disrupted as a result of genetic polymorphisms, leading to ovarian dysfunction and the development of PCOS symptoms. In particular, variations in the genes encoding steroidogenesis and hormone receptors can disrupt the hormonal balance, leading to conditions such as hyperandrogenism and ovarian cyst formation. Insulin resistance is the most prominent feature of PCOS pathology that interacts with genetic factors and aggravates the condition. Management strategies are aimed at symptom relief with lifestyle modifications and pharmacological interventions to improve the quality of life and fertility outcomes in women with the condition. The ongoing investigations of the association of genetic polymorphisms with PCOS emphasize the complexity of this disease but also highlight the discrepancies in results with respect to genetic factors involved in the syndrome. One promising direction for this field is the trend toward subtyping PCOS. This may move the classification of PCOS from a largely subjective diagnosis to one based on discrete biological differences. Weight loss, a balanced diet, and regular use of prescribed medicines can help in managing the severity of PCOS effectively through preventive measures.