Public Release: 

Menstrual Irregularities May Indicate Genetic Disorder

Penn State

Hershey, Pa. -- Five to 10 percent of women suffer from a hormonal disorder that may be inherited and may cause infertility, according to a doctor at Penn State's Milton S. Hershey Medical Center who is researching the problem.

Women suffering from this disorder may find that their male relatives are affected as well, although in different ways.

The disorder, polycystic ovary syndrome (PCOS), refers to a group of apparently related symptoms, including menstrual irregularities, increased body and facial hair (hirsutism), acne and infertility, according to Richard S. Legro, M.D., assistant professor of obstetrics and gynecology at Hershey. Women with PCOS are often overweight, as well.

"PCOS is the most common cause of irregular periods," said Legro, noting that 80 percent of women with six or fewer periods per year have the syndrome.

Legro and other leading researchers believe that PCOS is inherited, and that its symptoms may appear among both males and females in the family. Legro is currently conducting a major study of women with PCOS and their families. Hershey is one of the few study locations in the country. The goal is to interview and test, over the next five years, 300 women with PCOS and their relatives.

Most women with PCOS have multiple small cysts in their ovaries, hence the ovaries are called polycystic. These cysts can be detected by sonogram. Researchers believe that a slight elevation of male hormones called androgens may inhibit development of the eggs within the ovary, causing the anovulation or failure to ovulate that is typical of women with PCOS. Since women with PCOS may not ovulate at all or may only ovulate infrequently, they may have difficulty getting pregnant. These androgens may also lead to increased body hair and acne.

Legro is recruiting women with PCOS and their families for his study and has started a support group and a home page on the Internet to help women understand and cope with the syndrome. The home page, located at www.hmc.psu/depts/obgyn/pcos.htm, includes a question-and-answer forum, with Legro replying to specific patient questions.

"We used to think that the primary result of PCOS was irregular periods, and hirsutism," said Legro. "But women with PCOS frequently have a pre-diabetic condition. They are at risk for diabetes, particularly if they are overweight."

Women with PCOS appear to have additional health risks besides the tendency toward diabetes, according to Legro. Uterine cancer may eventually result from the infrequent menstrual periods, since the lining of the uterus continues to grow with each missed period.

Male relatives of women with PCOS may be insulin-resistant and may tend to become bald at a young age.

"Our goal is to see if this is a genetic disease," said Legro. "There appears to be a pattern of inheritance within the family, but no one has really done these studies yet, in a careful, systematic manner." Other names for the disorder are Stein-Leventhal Syndrome and hyperandrogenic chronic anovulation.

One of the major funders of the study, The National Cooperative Program for Infertility Research, was established by an act of Congress as a resource to explore disorders causing infertility. Additional National Institute of Health (NIH) funding comes through its support of the General Clinical Research Center at Hershey, as well as an NIH clinical investigator award to Legro. Hershey Medical Center is also providing funding for the study.

Interested women or men may contact the researchers through the Internet site above or by calling Sharon Ward, the study coordinator, at 1-800-585-9585.


Gail Brown (o)(717) 531-8604
Deborah S. Saline (o) (717) 531-8606

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