Title of article :
Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Author/Authors :
Dadachanji, Roshan Department of Molecular Endocrinology - National Institute for Research in Reproductive Health - J.M. Street - Parel - Mumbai 400012 - India , Shaikh, Nuzhat Department of Molecular Endocrinology - National Institute for Research in Reproductive Health - J.M. Street - Parel - Mumbai 400012 - India , Mukherjee, Srabani Department of Molecular Endocrinology - National Institute for Research in Reproductive Health - J.M. Street - Parel - Mumbai 400012 - India
Abstract :
Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex
pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including
hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by
preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed
mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have
been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade
of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits.
However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In
the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.
Keywords :
Genetic Variants , Hyperandrogenemia , PCOS Pathophysiology , Polycystic ovary syndrome
Journal title :
Genetics Research International