How is polycystic ovary syndrome (PCOS) diagnosed?

Diagnosis of polycystic ovary syndrome (PCOS) begins with an inventory of signs and symptoms, the most common of which are:

  • unwanted hair growth or hirsutism (excess body and/or facial hair in a male-like pattern, particularly on the chin, upper lip, breasts, inner thighs and abdomen)
  • irregular or infrequent periods
  • obesity, primarily around the abdomen (although only about 30 percent to 60 percent of patients are obese)
  • acne and/or oily skin (particularly severe acne in teenagers or acne that persists into adulthood)
  • infertility
  • ovarian appearance suggesting polycystic ovaries
  • hair loss or balding
  • acanthosis nigricans (darkening of the skin, usually on the neck; also a sign of insulin problems), often with skin tags (small tags of excess skin), most often seen in the armpit or neck area

Women with PCOS may have varying combinations of these and other signs and symptoms, but three important features of the disorder include the following:

  • Hyperandrogenism (signs of male-like traits, such as hirsutism) and/or hyperandrogenemia (excess blood levels of androgens). Androgens are hormones such as testosterone that in excess quantities cause such symptoms as hirsutism and acne. In more severe cases, "virilization"—taking on significant male characteristics, including severe excess facial and body hair, an enlarged clitoris, baldness at the temples, acne, deepening of the voice, increased muscularity and an increased sex drive—may occur. However, virilization is more frequently a sign of an androgen-producing tumor, which should be searched for.
  • Lack of ovulation or irregular ovulation often resulting in irregular or absent menstruation. Women with PCOS usually have oligomenorrhea (eight or fewer periods per year) or amenorrhea (absence of periods for extended periods).
  • Polycystic ovaries on ultrasound.

Experts have determined that a woman must exhibit at least two of these three symptoms to be diagnosed with PCOS.

The diagnostic process should include a thorough physical examination and history to check for signs and symptoms of other disorders that can have similar signs and symptoms, such as hypothyroidism, Cushing's syndrome (a hormonal disorder in which the adrenal glands malfunction), adrenal hyperplasia (a genetic condition that results in male hormone excess produced by the adrenal glands), and androgen-secreting tumors (of the ovary, adrenal gland, etc.).

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