Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment

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. Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder in premenopausal women. Here, Héctor F. Escobar-Morreale reviews the newest advances and limitations of current knowledge regarding PCOS and provides principles for the diagnosis and management of women with PCOS. 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.