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ESSENTIALS OF DIAGNOSIS

ESSENTIALS OF DIAGNOSIS

  • Clinical or biochemical evidence of hyperandrogenism.

  • Oligoovulation or anovulation.

  • Polycystic ovaries on ultrasonography.

GENERAL CONSIDERATIONS

Polycystic ovary syndrome (PCOS) is a common endocrine disorder of unknown etiology affecting 5–10% of reproductive age women. The Rotterdam Criteria, endorsed by the National Institutes of Health, identify hyperandrogenism, ovulatory dysfunction, and polycystic ovaries as the key diagnostic features of the disorder in adult women; at least two of these features must be present for diagnosis.

CLINICAL FINDINGS

PCOS often presents as a menstrual disorder (ranging from amenorrhea to heavy menstrual bleeding) 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 metabolic syndrome. Unrecognized or untreated PCOS is a risk factor for CVD. 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 chronic exposure to unopposed estrogen.

DIFFERENTIAL DIAGNOSIS

Anovulation in the reproductive years may also be due to (1) premature ovarian failure (high FSH, low estradiol); (2) functional hypothalamic amenorrhea, often associated with rapid weight loss or extreme physical exertion (low to normal FSH 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, estradiol, prolactin, and TSH should be evaluated. 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.

TREATMENT

In obese patients with PCOS, weight reduction and exercise are often effective in reversing the metabolic effects and in inducing ovulation. For women who do not respond to weight loss and exercise and do not desire pregnancy, combined hormonal contraceptives are first-line treatment to manage hyperandrogenism and menstrual irregularities. Intermittent or continuous progestin therapy or a hormonal IUD may be used for endometrial protection in women who cannot or choose not to use combined hormonal contraceptives. Metformin therapy may be used as a second-line therapy to improve ...

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