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Gynecol Endocrinol. 2009 Sep;25(9):603-9. doi: 10.1080/09513590903015619.

The role of genes in the polycystic ovary syndrome: predisposition and mechanisms.

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  • 1Division of Pediatric-Adolescent Gynaecology and Reconstructive Surgery, 2nd Department of Obstetrics and Gynaecology, Medical School, University of Athens, 'Aretaieion' Hospital, Athens, Greece.


The polycystic ovary syndrome (PCOS), mainly characterized by clinical and/or biochemical hyperandrogenism, ovarian dysfunction and/or polycystic morphology as well as associated metabolic disorders, is the most common endocrine disorder in women of reproductive age. The familial clustering of PCOS cases and the accumulating evidence 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. The related genes can be grouped in four categories: those related with insulin resistance, those that interfere with the biosynthesis and the action of 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. Further studies are needed, in order to shed new light in the pathogenesis of the syndrome, which will allow for new approaches in the diagnostics and therapeutics of PCOS.

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