The first signs of PCOS tend to manifest at puberty. As a result of the failure to ovulate normally, young women with PCOS may fail to menstruate or menstruate only erratically. A small percentage of women may have normal menstrual cycles. Women affected with PCOS often experience infertility, an inability to become pregnant. Additionally, women with PCOS tend to gain weight, and 70% eventually become obese.
The overproduction of androgens leads to changes in the body that are more typical of male development. For example, approximately 70% of women with PCOS will show hair growth on the face, chest, stomach, and thighs (hirsuitism). Simultaneously, they show thinning of the hair more typical of male-pattern baldness. Other male characteristics, such as deep voice, acne, and increased sex drive may also be present, and affected women often have decreased breast size.
Women with PCOS do not respond appropriately to the hormone, insulin. As a result, 15% of women with PCOS may develop high levels of sugar in the blood later in life, a condition known as diabetes. Resistance to insulin is also associated with dark, warty skin growths in the groin and armpits, known as acanthosis nigricans.
Untreated PCOS is a risk factor for the development of several dangerous conditions. The hormone abnormalities in PCOS place women at considerable risk for endometrial cancer and possibly breast cancer. The risk of endometrial cancer is three times higher in women with PCOS than in normal women, and small studies suggest that the risk of breast cancer may by three to four times higher. PCOS also results in increased risk of high blood pressure, diabetes, and high cholesterol, all of which contribute to heart disease and stroke.
A diagnostic search for PCOS is usually initiated when women experience an absence of menstrual periods for at least six months, an inability to become pregnant, and/or abnormal hair growth or acne. A comprehensive
Blood tests can be performed that may yield results consistent with PCOS, including abnormal levels of LH and FSH (typically in a ratio of 3:1), abnormally high levels of androgens (testosterone, DHEA, DHEAS), abnormally high levels of insulin, and abnormally low levels of a substance called sex hormone-binding globulin. In addition, a physician may perform a diagnostic test called a "progesterone challenge". In this test, a physician administers a hormone called progesterone to the patient to determine if it will provoke menstruation. If menstruation does occur in response to the progesterone, it is likely that a patient has PCOS.
Finally, an ultrasound examination of the ovaries may be performed to determine if large cystic follicles can be documented. With this approach, the diagnosis of PCOS is based on the finding of more than eight enlarged follicles in the ovary.
There is no cure for PCOS, thus treatment focuses on several goals, including the restoration of the menstrual cycle, blocking the effect of androgens, reducing insulin resistance, lowering the risk of cancer and heart disease, and possibly restoring ovulation and fertility.
In patients who do not desire pregnancy, hormones can be administered in the form of birth control pills, which may result in normal menstrual cycles, decreased
Other types of medication can be used to block the effects of androgens. When these medications are taken with birth control pills, 75% of women report decreased body hair growth. The most commonly used medications to block androgen effects are spironolactone (Aldactone), flutamide (Eulexin), and cyproterone (Cyprostat).
Treatment with medications that restore the body's normal response to insulin has been shown to decrease LH and androgen levels. Recent studies have demonstrated that such agents restore the menstrual cycle in 68-95% of patients treated for as short a time as four to six months. One of the most commonly used medications to improve the effects of insulin is metformin (Glucophage).
In patients who are trying to become pregnant, a physician can administer medications that will cause ovulation. The main medication used to induce ovulation is clomiphene citrate (Clomid). Ovulation is successful in approximately 75% of women treated with clomiphene, but only 30-40% of women will successfully become pregnant. Another medication, follitropin alpha (Gonal-F), has achieved pregnancy rates of 58-82%, but may cause more side effects and frequently results in more than one baby per pregnancy.
Some women who do not respond to medications may undergo surgery to remove portions of the ovary. For reasons that are not completely understood, removal of a portion of the ovary may result in some degree of normal menstrual cycles.
While medications and surgery may provide a degree of symptomatic relief for some women, other simultaneous strategies can increase their benefits. Behavior modifications, including weight reduction, diet and exercise, are recommended for all women with PCOS. As little as a 7% reduction in body weight can lead to a significant decrease in androgen levels and to the resumption of ovulation in obese women with PCOS. Cosmetic techniques, including electrolysis (destruction of the hair follicle using electricity) and laser therapy, may be used to decrease hair growth. Finally, women should be seen regularly for full physical examinations including pelvic exams to aid in the early detection of ovarian, breast, and uterine cancer and should be managed by an interdisciplinary health care team including a primary care physician, obstetrician/gynecologist and reproductive endocrinologist.
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Author Info: Oren Traub MD, PhD, Thomson Gale, Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part II, 2005 |