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Polycystic ovary syndrome: etiology, pathogenesis and diagnosis

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Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age, with a prevalence of up to 10%. Various diagnostic criteria have been proposed, generally centered around the features of hyperandrogenism and/or hyperandrogenemia, oligo-ovulation and polycystic ovarian morphology. Insulin resistance is present in a majority of cases, with compensatory hyperinsulinemia contributing to hyperandrogenism via stimulation of ovarian androgen secretion and inhibition of hepatic sex hormone-binding globulin production. Adipose tissue dysfunction has been implicated as a contributor to the insulin resistance observed in PCOS. Environmental and genetic factors also have a role in the development of PCOS. The syndrome is associated with numerous morbidities, including infertility, obstetrical complications, type 2 diabetes mellitus, cardiovascular disease, and mood and eating disorders. Despite these morbidities, PCOS may be common in our society owing to evolutionary advantages of the syndrome in ancient times, including smaller family sizes, reduced exposure to childbirth-related mortality, increased muscle mass and greater capacity to store energy. The diagnosis of PCOS hinges on establishing key features while ruling out other hyperandrogenic or oligo-ovulatory disorders. Treatment is focused on the goals of ameliorating hyperandrogenic symptoms, inducing ovulation and preventing cardiometabolic complications.

Key Points

  • The central diagnostic features of polycystic ovary syndrome (PCOS) are hyperandrogenemia, hyperandrogenism (hirsutism), oligoanovulation and polycystic ovaries; the three main diagnostic schemes utilize different combinations of these criteria

  • The prevalence of PCOS in women of reproductive age is 6–10%; prevalence is remarkably similar across different populations across the globe

  • Insulin resistance, a common feature of PCOS that arises in part from adipose tissue dysfunction, results in compensatory hyperinsulinemia, which maintains normal glucose levels but adversely effects ovarian androgen production

  • Abnormal folliculogenesis and gonadotropin production, particularly luteinizing hormone hypersecretion, also contribute to the development of PCOS; these abnormalities may arise from environmental insults as well as genetic predisposition

  • Long-term complications of PCOS include infertility, obstetrical complications, type 2 diabetes mellitus, cardiovascular disease, and mood and eating disorders

  • Treatment of PCOS must be tailored to the specific needs of each patient; goals of therapy may include ameliorating hyperandrogenic symptoms, inducing ovulation, regulating menstruation and preventing cardiometabolic complications

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Change history

  • 10 February 2011

    In the version of this article initially published online, there was a mistake in the Hirsutism section on page 7. In the first paragraph of this section, the phrase "flutamide 2.5–5 mg per day" should have read "flutamide 62.5–250 mg per day". The error has been corrected in all electronic versions of the text.

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All authors contributed to researching data for the article, a substantial contribution to the discussion of content, writing, and reviewing/editing the manuscript before submission.

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Correspondence to Ricardo Azziz.

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Evaluation of patients with potential hyperandrogenism (PPT 73 kb)

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Goodarzi, M., Dumesic, D., Chazenbalk, G. et al. Polycystic ovary syndrome: etiology, pathogenesis and diagnosis. Nat Rev Endocrinol 7, 219–231 (2011). https://doi.org/10.1038/nrendo.2010.217

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