PCOS Diagnostic Criteria Clarified; Name Must Change

Ricki Lewis, PhD

January 23, 2013

An independent panel has recommended renaming polycystic ovary syndrome (PCOS) and clarifying diagnostic criteria. The panel proposed the changes in response to an Evidence-based Methodology Workshop held December 3 - 5, 2012, at the National Institutes of Health and sponsored by the Office of Disease Prevention and the Eunice Kennedy Shriver National Institute of Child Health and Human Development. They presented their results during a teleconference on January 23, 2013.

The panel evaluated the literature and also presentations by experts, audience input, and public comments in setting criteria for PCOS and identifying future research directions. Panel member Robert Rizza, MD, from the Mayo Clinic, called the syndrome "a major public health issue for women."

Defined by 2 of 3 Signs

PCOS affects 5 million women in the US. Symptoms include weight gain, acne, thinning scalp hair, hirsutism, oligomenorrhea, amenorrhea, infertility, and ovarian cysts, and it elevates risk for insulin resistance. Obesity exacerbates symptoms.

The recommendations support the Rotterdam diagnostic criteria from 2003, which include 2 others (the NIH from 1990 and the Androgen Excess and PCOS Society from 2006). The panel defined "specific phenotypes" based on having 2 of 3 conditions, or all 3: androgen excess, ovulatory dysfunction, and polycystic ovaries.

Because the eponymous polycystic ovaries are not required for diagnosis, the panel advised replacing the name PCOS. "It is time to expeditiously assign a name that reflects the complex metabolic, hypothalamic, pituitary, ovarian, and adrenal interactions that characterize the syndrome," Dr. Rizza said.

The panel called for improving methods to assess the 3 criteria. These include development of precise and accurate assays and defining normal ranges for different population groups (age and ethnicity) and sampling conditions (such as stage of menstrual cycle) for each criterion.

Timothy Johnson, MD, from the University of Michigan, offered an example. "A 13-year-old might present with too much hair and elevated testosterone, and ultrasound of the ovaries reveals small cysts. You have to be careful in diagnosing PCOS because a lot of 13-year-old girls have polycystic ovaries."

Coming in Through Different Doors

PCOS is multifactorial. Twin studies indicate an inherited component, genome-wide association studies reveal candidate genes, and animal models suggest prenatal exposure to testosterone might contribute to androgen excess.

The syndrome is also multidisciplinary, Dr. Johnson pointed out. "The challenge is that patients come in through different doors. A woman with irregular periods and excess androgens wanting to get pregnant comes through the obstetrician's door. Another patient goes to a dermatologist, not happy with excess hair. Yet another goes to her internist because she's overweight and pre-diabetic. We need to recognize that this is a condition that can manifest in a number of different ways."

Treatment is symptomatic. It includes weight loss, antiandrogens, and medications for infertility and/or diabetes. However, injections of human chorionic gonadotropin (hCG) can lead to ovarian hyperstimulation syndrome (OHSS), which can be fatal in women with PCOS.

The panel set research and clinical priorities:

  • Conduct multiethnic cohort studies to identify causes.

  • Assess the effect of improving glucose tolerance before or during early pregnancy on maternal-fetal outcomes.

  • Use model systems to discover the mechanisms of hormonal and metabolic dysfunction.

  • Conduct multiethnic longitudinal studies to assess cardiovascular and diabetic complications, and reproductive cancers.

Finally, the panel called for improved awareness of the syndrome among healthcare providers, the public health community, and patients.

Drs. Johnson and Rizza disclosed no conflicts of interest.