Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment

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Key Points

  • Polycystic ovary syndrome (PCOS) is defined by a combination of signs and symptoms of androgen excess and ovarian dysfunction in the absence of other specific diagnoses.

  • Heterogeneity, from aetiology to clinical presentation and long-term prognosis, is intrinsic to PCOS.

  • Mounting evidence suggests that PCOS might be a complex multigenic disorder with strong epigenetic and environmental influences, including diet and other lifestyle issues.

  • The diagnosis of PCOS is uncomplicated, requiring only the careful application of a few well-standardized diagnostic methods.

  • Treatment should be symptom-oriented, long term and dynamic and adapted to the changing circumstances, personal needs and expectations of the individual patient.

  • Therapeutic approaches should target hyperandrogenism, the consequences of ovarian dysfunction and/or the associated metabolic disorders.

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine and metabolic disorders in premenopausal women. Heterogeneous by nature, PCOS is defined by a combination of signs and symptoms of androgen excess and ovarian dysfunction in the absence of other specific diagnoses. The aetiology of this syndrome remains largely unknown, but mounting evidence suggests that PCOS might be a complex multigenic disorder with strong epigenetic and environmental influences, including diet and lifestyle factors. PCOS is frequently associated with abdominal adiposity, insulin resistance, obesity, metabolic disorders and cardiovascular risk factors. The diagnosis and treatment of PCOS are not complicated, requiring only the judicious application of a few well-standardized diagnostic methods and appropriate therapeutic approaches addressing hyperandrogenism, the consequences of ovarian dysfunction and the associated metabolic disorders. This article aims to provide a balanced review of the latest advances and current limitations in our knowledge about PCOS while also providing a few clear and simple principles, based on current evidence-based clinical guidelines, for the proper diagnosis and long-term clinical management of women with PCOS.

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Figure 1: The heterogeneous nature of PCOS.
Figure 2: Environmental factors influencing PCOS.
Figure 3: Abdominal adiposity and PCOS.
Figure 4: Pathophysiological heterogeneity in patients with PCOS.
Figure 5: Algorithm for the aetiological diagnosis of women thought to have PCOS.
Figure 6: Algorithm for the management of clinical hyperandrogenism.

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Acknowledgements

This paper was supported by grants PI1501686 and PIE1600050 from the Instituto de Salud Carlos III, Spanish Ministry of Economy and Competitiveness. CIBERDEM and IRYCIS are also initiatives of the Instituto de Salud Carlos III, supported in part by Fondo Europeo de Desarrollo Regional FEDER.

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Correspondence to Héctor F. Escobar-Morreale.

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Escobar-Morreale, H. Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment. Nat Rev Endocrinol 14, 270–284 (2018) doi:10.1038/nrendo.2018.24

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