Diagnosis

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Diagnosis begins with an inventory of symptoms, the most common of which are:

• 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

• 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. This condition is also a sign of insulin problems)

• Skin tags, small pieces of excess skin in the armpit or neck area

Women with PCOS may have varying combinations of these and other symptoms, but two essential features of the disorder are:

• Hyperandrogenism, or 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 associated with maleness, including include excess facial and body hair (hirsutism), an enlarged clitoris, baldness at the temples, acne, deepening of the voice, increased muscularity, and an increased sex drive) -- may occur.

• 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). Some women with PCOS have polymenorrhea, or periods that are too frequent.

The diagnostic process should include a thorough physical examination and history to check for signs and symptoms of hypothyroidism, Cushing's syndrome (a hormonal disorder in which the adrenal glands malfunction), and tumors (of the ovary, adrenal gland, etc.). While there is no single test for PCOS, a health care professional may measure blood levels of the following:

• Thyroid hormone (symptoms of low thyroid function, or hypothyroidism include irregular menstruation, similar to that of PCOS)

• Prolactin (high levels of this hormone, which stimulates milk production, often results in irregular or absent menses similar to that seen in PCOS)

• Androgen levels, including dehydroepiandrosterone sulfate (DHEAS) and testosterone. Androgen-producing tumors, although they are rare, can result in some of the masculinizing symptoms of PCOS. If your testosterone level is persistently above 200 ng/dL, your health care professional may want to investigate further.

• Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. FSH promotes the development of egg-containing follicles in the ovaries, while LH stimulates ovulation as well as follicle rupture and encourages the empty follicle to convert to progesterone production. A high ratio of LH to FSH (greater than 2:1 or 3:1) may be characteristic of PCOS, although this ratio is less useful in obese women. However, most experts do not obtain LH or FSH levels to diagnose PCOS.

These tests should be interpreted carefully by a specialist, such as an endocrinologist or reproductive endocrinologist. The best time to be tested is in the morning just after your menstrual period begins (you may need medication to induce menstruation). Birth control pills might make the tests difficult to interpret because they change the hormonal balance, and may mask any abnormalities that may exist in male hormones.

Your health care professional may also order ultrasound imaging of the ovaries to look for the characteristic picture of multiple cysts. An ultrasound may also be used to look for abnormalities in the lining of the uterus, called the endometrium.

The ultrasound test usually involves insertion of a probe into the vagina, although a transabdominal ultrasound, in which the ultrasound is passed over your abdomen, can also be performed, particularly in women who have never been sexually active.

If you have PCOS, you should be tested and treated for other conditions associated with the syndrome, such as insulin resistance and type 2 diabetes, high blood pressure and elevated blood lipids (cholesterol and triglycerides).

The syndrome may also increase the risk for heart disease, although long-term, definitive studies have yet to be completed. Women with PCOS who become pregnant are at increased risk of developing gestational diabetes.