Polycystic ovary syndrome (PCOS) is the most common endocrine abnormality afflicting women. It has an impact on not only a woman’s appearance but also her ability to conceive (infertility is usually the primary presenting complaint). Although 4%-12% of women of childbearing age have PCOS, it is often misdiagnosed or goes undetected.
First described in 1935 as Stein-Leventhal syndrome, the disease was the verifying diagnosis of women who had amenorrhea, infertility, hirsutism, and enlarged polycystic ovaries. Throughout the ensuing years, the original definition has evolved.
In 1990, it was defined by the NIH as hyperandrogenism accompanied by irregular menses. International criteria, as set by the Rotterdam Consensus Group, requires the presence of two of the following three conditions: (1) clinical or biochemical hyperandrogenism, (2) anovulation or oligo-ovulation, (3) and polycystic ovaries on either visual inspection or ultrasound examination.
Although a considerable amount of debate exists as to what specifics comprise a polycystic ovary, the Rotterdam Consensus defines it as an ovary with a minimum of 12 follicles measuring from 2 to 9 mm in diameter.
Signs and symptoms
The signs and symptoms most often associated with PCOS are mainly secondary to elevation of plasma androgens and insulin. They include hyperandrogenism, anovulation, oligo-ovulation, hirsutism, acne, male-pattern baldness, irregular menses (oligomenorrhea/amenorrhea), insulin resistance with or without impaired glucose tolerance, obesity (often central), infertility, and acanthosis nigricans.
PCOS is a diagnosis of exclusion made by ruling out all other causes of the presenting signs and symptoms of hyperandrogenism. These causes include congenital adrenal hyperplasia, Cushing’s syndrome, and androgen-secreting adrenal and ovarian tumors. Common complications of PCOS include obesity and uncontrolled diabetes mellitus. Generally speaking, a sudden presentation of signs and symptoms of androgen excess in postpubertal women is indicative of an androgen-producing tumor.
Recognizing hyperandrogenismFunctional hyperandrogenism refers to clinical manifestations of elevated androgens, including hirsutism, acne, and male-pattern alopecia. Infertility or menstrual disorders are usually the presenting complaint of the functional hyperandrogenic state regardless of its etiology. The most detrimental etiologies of hyperandrogenism are androgen-producing tumors.
Biochemical evaluation should be performed when functional hyperandrogenism exists. In women, plasma testosterone is produced by the adrenal glands and ovaries in equal amounts. Symptomatic hyperandrogenism is generally secondary to alteration of androgen metabolism in these glands. Elevated blood levels of testosterone (free and/or bound) and dehydroepiandrosterone sulfate (DHEAS) are indicative of a hyperandrogenic state in women. Tumor-mediated hyperandrogenism should be strongly considered when testosterone levels are ≥150-200 ng/dL.