Genes Related to Metabolic Abnormalities or Insulin Resistance in Polycystic Ovary Syndrome

The familial aggregation of polycystic ovary syndrome (PCOS) suggests that genetic factors are involved in the pathogenesis of this common disorder. Considering that insulin stimulates adrenal and ovarian androgen synthesis, any disorder in which insulin levels are increased facilitates hyperandrogenism and PCOS, especially in women with a primary abnormality in steroidogenesis leading to exaggerated androgen systhesis. Therefore, several genomic variants related to insulin resistance and hyperinsulinism have been found in association with PCOS influencing glucose homeostasis, but it is unclear whether or not these variants contribute to the hyperandrogenic phenotype of these patients. In order to reveal the genetic defects that are actually responsible for PCOS, future studies should compare women who, for a similar degree of insulin resistance, present with or without PCOS. Similarly, studies conducted in PCOS patients and non-hyperandrogenic women separately, will provide unbiased evidence of the influence of the genomic variants related to insulin resistance on the metabolic abnormalities frequently found in patients with PCOS and whether or not this influence is specific for PCOS, or is common to every woman irrespectively of her androgenic status. Hopefully, the precise identification of which variants contribute to insulin resistance in PCOS will facilitate the identification of those patients especially predisposed to a favorable response to insulin sensitizers.