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A Mysterious Ailment.

How to spot a hormonal disorder

Eluding diagnosis

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.

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