Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 2 , Pages 193-205, June 2006

Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome

  • Ricardo Azziz, MD, MBA, MPH (Chair and Professor of Obstetrics and Gynecology and Medicine)

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +1 310 423 7433; fax: +1 310 423 3470.

Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Medical Genetics Institute, Los Angeles, CA, USA

Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA

Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

Department of Obstetrics and Gynecology, Center for Androgen Related Disorders, Cedars-Sinai Medical Center, 8635 West Third Street, Suite 160W, Los Angeles, CA 90048, USA

Department of Medicine, and Obstetrics and Gynecology, The David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, and its definition remains fluid and controversial. PCOS is characterized by clinical and/or biochemical hyperandrogenism, and is frequently accompanied by ovulatory dysfunction and polycystic ovaries. PCOS is a diagnosis of exclusion, with other androgen excess and related disorders to be excluded. The prevalence of PCOS is 6.5–8.0% of unselected women of reproductive age, using the NIH 1990 criteria. Genetically, PCOS is a common, complex disorder. Despite repeated attempts to identify the putative gene or genes responsible for this disorder, the PCOS gene(s) remain elusive.

Key words: epidemiology, polycystic ovary syndrome, phenotyping, complex disorders

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PII: S1521-690X(06)00022-4

doi:10.1016/j.beem.2006.02.005

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 2 , Pages 193-205, June 2006

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