Diagnosis of PCOS

Frederick R. Jelovsek MD

Many women with anovulation causing infertility or irregular menses have, or think they have, a diagnosis of polycystic ovarian disease. That term has been replaced by polycystic ovarian syndrome (PCOS). The term syndrome is used because this appears to be more than one disease. At least there are different combinations of symptoms that have similarities. Traditionally PCOS included obese women with excess hair growth (hirsutism) who had anovulation (no menses) or oligoovulation (infrequent menses). They are at higher risk for endometrial cancer, hypertension and diabetes in later life. Not all women who are obese and have ovulation problems have PCOS -- in fact only about 40-60% do!

The excess hair growth is caused by higher levels of male hormones, androgens such as testosterone and DHEA. Do all women with PCOS have hyperandrogenism? The answer is yes and no. The current working definition from a National Institiute of Childhood Health and Human Development (NICHHD) Consensus Conference in 1990 is that there does have to be either clinical evidence (increased hair growth, male pattern of hair distribution) or laboratory evidence of increased androgens. There was not really a consensus, however, and many experts believe that there is a group of women who are not hirsute or have increased androgens, but are anovulatory, obese, and have increased insulin resistance that is characteristic of PCOS. The important factor in the long run is whether there is a metabolic dysfunction such as increased insulin resistance, or impaired glucose tolerance which both have a higher risk of ending up as type 2 diabetes, or at least increase risk for heart disease.

Categories often labelled as Polycystic Ovarian Syndrome

1. traditional PCOS -- anovulatory, increased androgens, no insulin resistance
2. endocrine syndrome X -- anovulatory, increased androgens, insulin resistance or type 2 diabetes
3. non-traditional PCOS --anovulatory, normal androgens, obese, insulin resistant or type 2 diabetes
4. non-traditional PCOS -- ovulatory, increased androgens, mild insulin resistance
5. idiopathic hirsutism -- ovulatory, increased androgens, no insulin resistance

Patients can be obese or non-obese. About 10% of non-obese women with PCOS have abnormal insulin resistance or type 2 diabetes, while almost 50% of obese women with PCOS have increased insulin resistance or type 2 diabetes.

In a recent CME article, Speroff L, Azziz R, Dunaif A, Giudice LC, Sobel BE: Diagnosis and mnagement of polycystic ovary syndrome. Suppl. Contem Ob/Gyn. 1998; Jul:4-28, the authors discussed the importance of diagnosis especially for the long term health of the woman because of tendancy toward heart disease and diabetes if there is a metabolic abnormality. They pointed out that you don't always need a precise diagnosis to manage an infertility component or bleeding due to lack of or infrequent ovulation, or even to manage the increased hair growth. In the long run, however, they emphasized determining if there were any metabolic problems.

The net result that I obtained from their discussion is that any woman who presents with anovulation or excess hair growth should have the following studies done:

• FSH, LH, estradiol (rules out hypothalamic amenorrhea)
• TSH, prolactin (rules out thyroid or prolactin-associated causes of ovulation problems)
• free testosterone and dehydroepiandrosterone sulfate (DHEA-S) (to see if increased androgens are primarily from ovary or from adrenal gland)
• fasting and 2 hour blood sugar, post 75 gm glucose challenge
• fasting glucose/insulin ratio and hemoglobin A1c as optional tests if blood sugars are not abnormal and woman is obese.

Keep in mind this is my interpretation in a field that experts are not very agreed upon.