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A Mysterious Ailment.

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The mystery of PCOS continued...

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.

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.

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