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ESSENTIALS OF DIAGNOSIS
Clinical or biochemical evidence of hyper-androgenism.
Oligoovulation or anovulation.
Polycystic ovaries on ultrasonography.
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GENERAL CONSIDERATIONS
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Polycystic ovary syndrome (PCOS) is a common endocrine disorder of unknown etiology affecting 5–10% of reproductive age women. PCOS is characterized by chronic anovulation, polycystic ovaries, and hyperandrogenism. It is associated with hirsutism and obesity as well as an increased risk of diabetes mellitus, cardiovascular disease, and metabolic syndrome. Unrecognized or untreated PCOS is a risk factor for cardiovascular disease. The Rotterdam Criteria identify androgen production, ovulatory dysfunction, and polycystic ovaries as the key diagnostic features of the disorder in adult women; the emerging consensus is that at least two of these features must be present for diagnosis. The classification system has been endorsed by the National Institutes of Health.
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PCOS often presents as a menstrual disorder (ranging from amenorrhea to menorrhagia) and infertility. Skin disorders due to peripheral androgen excess, including hirsutism and acne, are common. Patients may also show signs of insulin resistance and hyperinsulinemia, and these women are at increased risk for early-onset type 2 diabetes mellitus and the metabolic syndrome. Patients who do become pregnant are at increased risk for perinatal complications, such as gestational diabetes and preeclampsia. In addition, they have an increased long-term risk of endometrial cancer secondary to unopposed estrogen secretion.
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DIFFERENTIAL DIAGNOSIS
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Anovulation in the reproductive years may also be due to (1) premature ovarian failure (high FSH and LH levels); (2) functional hypothalamic amenorrhea, often associated with rapid weight loss or extreme physical exertion (low to normal FSH and LH levels for age); (3) discontinuation of hormonal contraceptives (return to ovulation typically occurs within 90 days); (4) pituitary adenoma with elevated prolactin (galactorrhea may or may not be present); and (5) hyperthyroidism or hypothyroidism. To rule out other etiologies in women with suspected PCOS, serum FSH, LH, prolactin, and thyroid-stimulating hormone should be checked. Because of the high risk of insulin resistance and dyslipidemia, all women with suspected PCOS should have a hemoglobin A1C and fasting glucose along with a lipid profile. Women with clinical evidence of androgen excess should have total testosterone, free (bioavailable) testosterone, and 17-hydroxyprogesterone measured. Women with stigmata of Cushing syndrome should have a 24-hour urinary free cortisol or a low-dose dexamethasone suppression test. Congenital adrenal hyperplasia and androgen-secreting adrenal tumors also tend to have high circulating androgen levels and anovulation with polycystic ovaries; these disorders must also be ruled out in women with presumed PCOS and high serum androgens.
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In obese patients with PCOS, weight reduction and exercise are often effective in reversing the metabolic effects and in inducing ovulation. For those women who do not respond to weight loss and exercise, metformin therapy may be helpful. Metformin is beneficial for metabolic or glucose abnormalities, and it can improve ...