In the end, Fitzgerald, now 25, diagnosed herself. Just out of college and enjoying a stint in rural Australia with her fiance, she stumbled across a description of polycystic-ovary syndrome (PCOS) in a medical textbook. The symptoms are every woman’s nightmare: obesity, irregular menstruation, infertility, acne, mood swings, facial hair and balding. And they perfectly matched her own. It was a revelation. Fitzgerald logged on to an Internet bulletin board for PCOS women and sobbed tears of relief when a fellow sufferer shouted THIS IS NOT YOUR FAULT into cyberspace. Soon afterward, an endocrinologist at a Sydney hospital confirmed her diagnosis.
Studies of women seeing their doctor for checkups have shown PCOS strikes about 5 percent of premenopausal women. Still, it so often goes unrecognized that women everywhere have stories like Fitzgerald’s. Behind their pain are some very confused doctors, who are only beginning to learn how PCOS magnifies a woman’s risk of diabetes seven times, and increases her chance of developing high cholesterol, heart disease and endometrial cancer. Studies of new medication and aggressive efforts to pinpoint PCOS genes–the disorder has a strong hereditary component–are lending hope to those afflicted, as are special diets and drugs that help the body respond to insulin. Still, so few American women with PCOS have been identified that the disease is in the database of the National Organization for Rare Disorders. “This is just not widely appreciated among physicians,” says Andrea Dunaif, chief of the division of endocrinology, metabolism and molecular medicine at Northwestern University Medical School in Chicago. “These women are told they’re too fat, and really made to feel terrible.”
It’s easy to mistake PCOS for something else, since symptoms like acne and obesity have multiple causes. Not every PCOS victim has the classic symptoms: despite its name, some women with the syndrome don’t have detectable ovarian cysts (whereas many women without PCOS do). Doctors diagnose PCOS by asking about irregular menstruation and testing blood levels of testosterone. While testosterone levels are usually above the normal female range, they’re generally lower than the lowest levels found in men. The testosterone triggers some of the most disconcerting PCOS symptoms, including excess body hair and male-pattern balding.
Researchers don’t understand the root causes of PCOS, but consider mysterious interactions between male hormones and insulin a candidate. What scientists do know is that many PCOS women do not respond properly to insulin; when they eat a meal, the insulin released by the pancreas isn’t enough to move glucose into cells the way it’s supposed to, so the body keeps pumping out more hormone. One theory says excess insulin stimulates testosterone production in the ovaries.
At the University of Pennsylvania, researchers are poring over DNA samples from 450 PCOS families in the hope of understanding what causes the disease. “We’re very sure that genes make some contribution,” says Richard Spielman, a genetics professor at the university. But, he adds, “lots of people might have the same predisposing element without developing the disease.” Given the insulin connection in PCOS, scientists thought it made sense to study the insulin-receptor gene; to their surprise, they found that stronger evidence comes not from that gene but from a distant neighbor on the same chromosome.
Genetics studies like the one at Penn and another at the University of Alabama at Birmingham have one struggle in common: recruiting families. Because PCOS diminishes fertility and makes miscarriage more likely, families with PCOS genes are often smaller than average. About 40 percent of women visiting infertility centers have PCOS, making it a leading cause of infertility, according to William Crowley Jr., a professor at Harvard Medical School. But it’s also one of the most treatable. With fertility drugs, many PCOS women have children.
Help for PCOS women also comes in diets that balance carbohydrates with “healthy,” or mono-unsaturated, fats, which can reduce insulin levels and stabilize weight. Insulin-sensitizing drugs like metformin (sold as Glucophage) serve a similar purpose. A drug trial for a new insulin sensitizer, D-chiro-inositol, is underway at dozens of sites around the country. Finally, patients not trying for pregnancy are often given birth-control pills, which induce ovulation and lower the chance of endometrial cancer.
Above all, doctors like Dunaif emphasize that the symptoms of PCOS, so often discounted as normal “weird bodies” by patients and physicians, are not. “Let women know if they have eight or less menstrual periods a year, they should hightail it to a specialist,” says John Nestler, professor and chair of the division of endocrinology and metabolism at Virginia Commonwealth University in Richmond. Diagnosing teenagers is slowly becoming more common, allowing for earlier intervention, and less heartache and self-blame. At the Web site of the PCOS Association (pcosupport.org), there’s a discussion board and newsletter devoted to girls.
Victims say one thing that brings relief is finding others who grasp the challenges of losing weight with PCOS, or the pain of laser hair removal or the difficulty finding a caring endocrinologist. But while some women are beginning to connect with others over the Internet or through local groups, others remain isolated. Tarra Hartl, a 28-year-old from Bismarck, N.D., is grateful that she’s had three children despite the syndrome, with her fourth–a boy–due in December. But when, seeking to launch a support group, she wrote to dozens of North Dakotans who’d sought help from the PCOS Association, none responded. Despite the strides she and other women have taken, Hartl believes that even in sparsely populated North Dakota, too many women with PCOS are living in ignorance, and in shame.
CORRECTION
In our Nov. 5 story about polycystic ovary syndrome, “‘It’s Not Your Fault’” (FOCUS ON YOUR HEALTH), we mistakenly said that birth-control pills induce ovulation. In fact, oral contraceptives suppress ovulation.
