Polycystic Ovarian Syndrome: Role of Genes and Genetics (original) (raw)

The most common systemic and an inflammatory endocrine-pathology that affects about 5-20% of women of reproductive age is polycystic ovary syndrome (PCOS). PCOS, also discussed as polycystic ovaries (PCO) or polycystic ovarian disease (PCOD), is a heterogeneous disorder having multifactorial etiology involving genetics, environmental factors as well as fetal and childhood exposures. The pathophysiology is characterized by the hallmark features of hyperandrogenism and insulin resistance. Insulin resistance can also aggravate hyperandrogenism. The typical triad of this syndrome-obesity, chronic anovulation and hirsutism are mainly the result of hyperandrogenism. Other symptoms may include pain in the pelvic region, male pattern alopecia, irregular periods and acne and can ultimately lead to infertility. Transformed expression of fundamental enzymes involved in the steroidogenic pathway may contribute to amplify ovarian steroidogenesis patterns. Candidate gene involved are under persistent investigation to demarcate the association of PCOS development with polymorphic genes, which encode for various enzymes involved in steroidogenesis or modify the levels and activity of intrinsic androgens. In the current review, the effect of androgen related genetic polymorphisms in governing genetic predisposition to PCOS and its linked metabolic and reproductive traits is summarized.