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The role of genes and environment in the etiology of PCOS

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Abstract

Both genes and the environment contribute to PCOS. Obesity, exacerbated by poor dietary choices and physical inactivity, worsens PCOS in susceptible individuals. The role of other environmental modifiers such as infectious agents or toxins are speculative. Phenotype confusion has characterized genetic studies of PCOS. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, the follistatin gene, and a region near the insulin receptor, the evidence supporting linkage is not overwhelming. The strongest case can be made for the region near the insulin recept or gene (but not involving this gene), as it has been identified in two separate studies, and perhaps most importantly has not yet been refuted by larger studies. However, the responsible gene at chromosome 19p13.3 remains to be identified. To date, no gene has been identified that causes or contributes substantially to the development of a PCOS phenotype.

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Authors and Affiliations

  1. Endocrine Section, First Department of Medicine, University of Athens Medical School, Athens, Greece

    Evanthia Diamanti-Kandarakis MD, Helen Kandarakis & Richard S. Legro

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  1. Evanthia Diamanti-Kandarakis MD
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  2. Helen Kandarakis
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  3. Richard S. Legro
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Correspondence to Richard S. Legro.

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Diamanti-Kandarakis, E., Kandarakis, H. & Legro, R.S. The role of genes and environment in the etiology of PCOS. Endocr 30, 19–26 (2006). https://doi.org/10.1385/ENDO:30:1:19

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  • DOI: https://doi.org/10.1385/ENDO:30:1:19

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