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Key Points

  • Disease summary:

    • Polycystic ovary syndrome (PCOS) is a highly prevalent and complex genetic disorder affecting reproductive aged women. Its characteristics include clinical and/or biochemical androgen excess, ovulatory dysfunction, and polycystic ovaries (PCOs). Women with PCOS are at increased risk for infertility, obesity, insulin resistance, glucose intolerance, type 2 diabetes mellitus (T2DM), dyslipidemia, and cardiovascular disease.

  • Hereditary basis:

    • There is an increased prevalence of PCOS among family members. Approximately 20% to 40% of first-degree female relatives of women with PCOS are affected by the condition, compared to a prevalence of 6% to 10% in the general population. A twin-family study showed 71% concordance in monozygotic twins, compared to 38% concordance in dizygotic twins and other sisters. The phenotypic components of PCOS, including hirsutism, hyperandrogenemia, oligomenorrhea, acne, and insulin resistance, are also increased in families of women with PCOS.

  • Differential diagnosis:

    • It is important to exclude thyroid dysfunction, hyperprolactinemia, nonclassical congenital adrenal hyperplasia, androgen-secreting neoplasms (ovarian and adrenal), Cushing syndrome, use of exogenous androgens, acromegaly, primary hypothalamic amenorrhea, primary ovarian failure, hyperandrogenism/insulin resistance/acanthosis nigricans (HAIRAN) syndrome (often with lipodystrophy), and syndromes characterized by insulin receptor gene mutations.

Diagnostic Criteria and Clinical Characteristics

Diagnostic Criteria

There are currently three different definitions of PCOS.

  • In 1990, the National Institutes of Health (NIH)—National Institute of Child Health and Human Development Consensus Conference of PCOS recommended that the major criteria include (in order of importance) hyperandrogenism and/or hyperandrogenemia, oligo-anovulation, and the exclusion of other possible etiologies of these signs and symptoms (see Differential Diagnosis, earlier and Table 104-1).

  • In 2003, the Rotterdam consensus expanded the diagnostic criteria, recommending that PCOS be defined by the presence of two out of the following three features (after exclusion of other endocrinopathies): clinical and/or biochemical hyperandrogenism, oligo-anovulation, and PCO on ultrasound. This definition therefore includes all patients meeting the 1990 National Institute of Health (NIH) criteria, but in addition includes (1) ovulatory women with clinical and/or biochemical hyperandrogenism and PCO, and (2) women with PCO and ovulatory dysfunction but without androgen excess.

  • In 2006, the Androgen Excess-PCOS Society again emphasized hyperandrogenism, recommending that PCOS be defined principally by clinical and/or biochemical hyperandrogenism, with either oligo-anovulation or PCO, or both, after exclusion of other possible etiologies.

Table 104-1Genetic Differential Diagnosis

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