Nov. 27, 2000 -- By the age of 40, Lahle Henninger says she'd had only five naturally occurring menstrual periods in her entire life. She's since had more, but only with the help of hormone supplements. For years, this Virginia mother of four also suffered from excess facial and body hair, severe acne, and tremendous weight gain. What was causing such bodily mayhem? None of the nearly 20 doctors she consulted could come up with a diagnosis, let alone a solution.
Then, at 27, she sought help for a minor sinus infection. When Henninger told her doctor about her other problems, "She looked at me and said, 'You can't go two years without a period; that means something's wrong.'" The doctor ordered blood tests, a sonogram to check Henninger's ovaries, and the opinion of an endocrinologist. One week later, Henninger received the diagnosis: polycystic ovary syndrome (PCOS).
The story gets worse: Researchers are now finding that women with PCOS are at higher risk for diabetes, heart disease, uterine cancer, and high blood pressure. For example, researchers reported in the January 1999 issue of the Journal of Clinical Endocrinology and Metabolism that these women are three times more likely to develop diabetes. At an annual meeting of endocrinologists this past June, researchers presented evidence suggesting that PCOS speeds the development of heart disease. This evidence brings an urgency to discovering better ways to diagnose and treat the syndrome, according to PCOS expert Walter Futterweit, MD, since he says that up to 10% of all U.S. women of reproductive age suffer from this often devastating condition.
The mystery of PCOS
What accounts for the lack of periods and other symptoms? Women with PCOS have excessively high levels of male hormones, such as testosterone. The result: Henninger's facial hair and the 278 pounds circling her midsection -- the "apple shape" associated with a propensity for heart disease. Testosterone overload can also lead to infertility or recurrent miscarriages, male pattern hair thinning, and sometimes multiple cysts on the ovaries. And, as evidenced by the irregular periods, women with PCOS don't regularly ovulate.
Researchers, however, have yet to uncover why these symptoms surface in the first place. One clue is that PCOS tends to run in families, says Futterweit, a clinical professor of medicine in the division of endocrinology at the Mount Sinai School of Medicine in New York City.
He hypothesizes that brain signals responsible for regulating reproductive hormones could be misfiring, or the ovaries and adrenal glands could be making the hormones incorrectly. Researchers are currently trying to find a gene that could help them understand why some women are more susceptible to developing PCOS.
For now, doctors must work with the symptoms and other signs they notice, says Caren Solomon, MD, MPH, associate director of women's health research at Brigham and Women's Hospital in Boston. "There's not even a universal consensus on the definition of the syndrome," she says. "There is a sense, among physicians, that you know it when you see it."
That doesn't mean that getting the right diagnosis is easy, however. On the contrary, without one test to definitively diagnose PCOS, getting answers remains difficult. Many times, doctors end up pointing to PCOS when they've exhausted other possibilities, says David Ehrmann, MD, an associate professor of endocrinology at the University of Chicago.
"To some extent, it's a diagnosis of exclusion," he says. "You have to exclude a number of conditions that can masquerade as PCOS."
Concocting a cure
Once doctors have finally arrived at the diagnosis, women like Henninger have yet another long road ahead to find the right treatment.
Many doctors, like Ehrmann, design a treatment plan for each patient, depending on the woman's symptoms and her age and stage of life. They may begin by suggesting a regular exercise regimen and a low-fat, low-carbohydrate diet for weight loss. For women who are markedly overweight and have irregular periods, Futterweit sometimes prescribes metformin, a diabetes medication. It helps the body's cells become more sensitive to insulin's signal to convert sugars into energy. This insulin insensitivity is often associated with PCOS.
To normalize the body's hormones, doctors usually recommend oral contraceptives along with a medication that counteracts male hormones. Women who want to get pregnant wouldn't take these medications. Instead, they can undergo fertility therapy with other drugs or try in vitro fertilization.
While the condition requires lifetime management, Futterweit says, women can indeed go on to live a normal life. Henninger, now a member of the board of directors for the Polycystic Ovarian Syndrome Association, lost 138 pounds after going on a low-carbohydrate diet for 13 months. Her diabetes, cholesterol levels, and high blood pressure are all under control.
And after fertility treatments didn't work, she and her husband, who was her high school sweetheart, began a family together by adopting three children. Then, in 1998, they were handed the surprise of their lives: Henninger found out that she was pregnant. "We weren't even trying," she says. "This baby was a miracle and a wonderful surprise."
Stacey Colino is a freelance writer in Chevy Chase, Md.