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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.
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Diagnostic Criteria and Clinical Characteristics
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There are currently three different definitions of PCOS.
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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.
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