Diagnosis and Treatment of PCOS

Diagnosis and Treatment of PCOS

Polycystic ovary syndrome (PCOS) affects 5-10% of the female population As such, it is the most common endocrine disorder affecting women - more common than diabetes. This is an important point, as women with PCOS can oftentimes feel very isolated.

How do you diagnosis PCOS and how does a women know if she has this disorder?

PCOS is really a clustering of symptoms and there is no "diagnostic test" that definitively diagnoses PCOS. The disorder is really a diagnosis of exclusion. PCOS is characterized by irregular menstrual cycles and some evidence of elevated androgen (or male-type hormones). Women will typically go through normal puberty and have a first spontaneous period although they may have early "adrenarche" (the appearance of pubic and axillary hair). And, while all women will have irregular menstrual cycles for the first 1-4 years after menses start, women with PCOS never develop a regular pattern and frequently have long episodes without bleeding (typically < 6 periods/year). Other causes of menstrual irregularity and elevated testosterone (male hormones) should be sought to exclude disorders that might clinically appear as PCOS. If no other cause is found, then PCOS is the diagnosis "by exclusion".

The irregularity in bleeding leads to the first potential risk for women with PCOS. During a normal menstrual cycle, a woman makes estrogen while the egg is developing and once ovulation occurs, the ovary primarily produces progesterone. Estrogen stimulates the lining of the uterus, so that it thickens. Progesterone acts to stop this growth of the lining, and if no pregnancy ensues, the lining is shed as the egg dies and estrogen and progesterone levels fall. Women with PCOS rarely ovulate and so while they make estrogen, they do not make progesterone. The absence of progesterone in the face of estrogen production can lead to an overgrowth ("hyperplasia") of the lining of the uterus - and if left untreated - to cancer of the uterus. Therefore, women with PCOS who are not actively trying to conceive should be on the oral contraceptive pills (which provide a progestin in every pill, thus protecting the uterus) or they should cycle with a synthetic form of progesterone at least every other month.

In addition, while women with PCOS have difficulty conceiving since they don't ovulate every month, it's not that they don't ever ovulate. Therefore, pregnancy can occur when women are not actively trying to conceive. Contraception should always be used in these situations.

For women who are actively trying to conceive, the first step is always weight loss. Loss of as little as 5-10% of the body weight may induce regular cycles in up to 60% of women with PCOS. This is particularly important for women who are overweight as increased weight, alone, decreases chances for conception, increases miscarriage risk and increases complications of pregnancy (diabetes and high blood pressure). In addition, new information would suggest obesity in women, when they conceive, impacts their children's long-term health, increasing risk for adult diabetes and heart disease in the offspring. Therefore, for both the patient's health, the ease of conception and the pregnancy, as well as for the future child's health, weight loss is always the first option.

For women who still don't ovulate, there are effective oral medications that will stimulate ovulation in up to 85% of women with PCOS. A large randomized study comparing metformin with clomiphene citrate (CC) showed that CC was more effective and had the higher pregnancy and delivery rate over a fixed interval. Therefore, this should be the first line of treatment for women interested in conceiving. Not all women will ovulate with CC, however, so having an ongoing relationship with your physician is critical to success without wasting unnecessary time. Alternative medications can be utilized (dexamethasone, hCG, metformin and/or letrozole) but for those women who don't ovulate easily with CC alone, strong consideration should be given to seeing a reproductive endocrinologist who could evaluate the situation and appropriately manage the patient to increase conception while minimizing time and risks.

The second symptom of PCOS is the manifestations of elevated androgens - typically unwanted hair growth on the face and/or acne - rarely scalp hair loss. These symptoms can be quite devastating for a woman and are important to address in the management plan. Oral contraceptive pills (OCPs), which have a progestin in each pill and therefore protect the endometrium, as discussed above, also have an estrogen in each pill. The estrogen increases a protein that binds tightly to testosterone so less of the hormone is free to act at the hair follicle. Therefore, OCPs are frequently first line treatment for PCOS. (As we don't know the cause of the disorder, there is no treatment to directly treat PCOS; rather, we treat the symptoms) Additional anti-androgen medications (e.g. spironolactone) can be added if needed to improve symptoms. It is important to realize the life-cycle of a hair follicle on the face is about 4 months, so don't expect to see improvement in hair growth for 4-6 months. Treatment must be maintained to stop new hair growth. Medical treatment can be utilized in conjunction with local treatments such as electrolysis or laser hair removal. Treatment for acne also includes hormonal suppression (OCPs) and local treatments (e.g. benzoyl peroxide).

Women with PCOS have clinical findings that increase the risk for the development of diabetes and heart disease. As above, weight loss is always the first line of treatment for women with PCOS. Even normal weight women with PCOS frequently have increased central fat deposition and elevated lipids, and can benefit from exercise. Exercise should include both aerobic and weight-building. Increasing muscle mass lowers insulin levels which may play a significant role in the pathogenesis of PCOS. No particular diet has been shown to be better (or worse) for women with PCOS. The most important factors are 1) calorie reduction and 2) something an individual can maintain. Some have suggested low carbohydrate diets may be superior but only limited data is currently available.

All women with PCOS should have certain health screening at diagnosis and regularly thereafter. Regardless of the weight or age of the woman, a fasting lipid profile and a fasting glucose should be obtained. It has also been advised that women have a glucose tolerance test (fasting blood sugar followed by a "sugar-load" - drinking a sweetened drink and repeat blood testing at 2 hours). Additionally, other causes of irregular cycles, such as elevated prolactin and thyroid dysfunction should be ruled out. Patients with specific risk factors should have testing for other causes of elevated male hormones.

A healthy lifestyle, with regular exercise and a low fat diet, are important for controlling symptoms and long-term risks from PCOS. PCOS runs in families so sisters and mother-daughter pairs may be affected. As we do not know the cause of PCOS, we cannot "cure" it, but it is important for women with PCOS to understand their risks and understand the significant role healthy lifestyle can play. Medications can be given to protect the endometrium and/or induce ovulation when pregnancy is desired. Medications and local treatments are important for treating symptoms of elevated androgens. All women should educate themselves and be active participants in their long-term health.