Kouskouti C, Kousteni E, Christopoulos P, Deligeoroglou E
Division of Pediatric-Adolescent Gynecology and Reconstructrive Surgery, 2nd Department of Obstetrics and Gynecology, University of Athens, Aretaieio hospital, Athens, Greece
Correspondence: Kouskouti Christina, 54 Lyra St, GR-14561, Kifissia, Athens, Greece. E-mail: christina@kouskoutis.com
Abstract
The polycystic ovary syndrome (PCOS), mainly characterized by clinical and/or biochemical hyperandrogenism, ovarian dysfunction and/or polycystic morphology and associated metabolic disorders, is the most common endocrine disorder in women of reproductive age. The observed aggregation of PCOS cases within the same families and the persuasion that the interaction between multiple genetic and environmental factors is necessary for the development of the syndrome, has triggered the conduct of genetic studies on PCOS. These studies have focused on many genetic polymorphisms, investigating their possible positive or negative correlation with the syndrome, which can be grouped in four categories: those related with insulin resistance, those that interfere with the biosynthesis and the action of the androgens, those that encode inflammatory cytokines and other candidate genes. Despite the progress that has been made in the elucidation of the genetic mechanisms of the PCOS, the genetic studies on the syndrome still face many obstacles and challenges, which need to be overcome, in order to obtain new approaches in the diagnostics and therapeutics of PCOS.
Keywords: polycystic ovary syndrome, genetic predisposition, genetic mechanisms, genes
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