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Definition, clinical features and differential diagnosis of polycystic ovary syndrome in adolescents

Robert L Rosenfield, MD
Section Editors
Amy B Middleman, MD, MPH, MS Ed
Mitchell Geffner, MD
Deputy Editor
Alison G Hoppin, MD


Polycystic ovary syndrome (PCOS) is the most common cause of infertility in women [1], frequently becomes manifest during adolescence, and is primarily characterized by ovulatory dysfunction and hyperandrogenism. The syndrome is heterogeneous clinically and biochemically. The diagnosis of PCOS has lifelong implications with increased risk for metabolic syndrome, type 2 diabetes mellitus, and possibly cardiovascular disease and endometrial carcinoma. PCOS should be considered in any adolescent girl with a chief complaint of hirsutism, treatment-resistant acne, menstrual irregularity, or obesity. (See 'Clinical features' below.)

The cause of PCOS is unknown. Considerable evidence suggests that it arises as a complex trait with contributions from both heritable and nonheritable intrauterine and extrauterine factors, among which insulin resistance and obesity are most common [2,3]. Functional ovarian hyperandrogenism is usually the major source of the androgen excess [4-6] and can account for the major features of the syndrome, ie, hirsutism, anovulation, and polycystic ovaries [4,7]. This ovarian dysfunction is unique: it appears to be intrinsic and is characterized by abnormal ovarian steroidogenesis [8] and folliculogenesis [3] that are manifested clinically by androgen excess and anovulation.

The definition, clinical manifestations, and differential diagnosis of PCOS in adolescents are presented here. Other aspects of PCOS in adolescents are reviewed separately:

(See "Diagnostic evaluation of polycystic ovary syndrome in adolescents".)

(See "Treatment of polycystic ovary syndrome in adolescents".)


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