Gail Donnelly's classmates nicknamed her "Knobby" because she was so skinny all her bones seemed to poke out from under her skin. But when Donnelly turned 27, that once knobby frame disappeared under mysteriously ballooning weight. Her diet hadn't changed, she was still walking several miles a day, but she gained 50 pounds in just six months.
Her doctor thought the cause was ovarian cysts. It took ten years and two surgeries before a new doctor accurately diagnosed her with polycystic ovary syndrome (PCOS). It's a serious metabolic disorder and one of the major causes of hormonally related infertility, yet the disorder remains largely undiagnosed and unknown. About 5 million women in the U.S. are affected by it.
"Women are told they are too fat and aren't taken seriously for a long time," said Andrea Dunaif, M.D., the Charles F. Kettering Professor of Medicine at Northwestern University Feinberg School of Medicine and a physician at Northwestern Memorial Hospital. "They go to an average of four doctors before they are diagnosed. They have been to physicians who say 'there is nothing wrong with you, don't worry'."
Before she received the news about PCOS, Donnelly, an ordinarily happy person, had sunk into a deep depression and her boyfriend accused her of letting herself go.
Dunaif, a national expert, knows otherwise. The complex genetic disease has long-term health risks throughout a woman's lifespan, including obesity and double the rate of metabolic syndrome, a constellation of risk factors for diabetes and heart disease.
Not only women are affected. Dunaif recently published a paper showing that brothers and fathers of women with PCOS also have a greater prevalence of obesity and metabolic syndrome. "It's essential that women and men are diagnosed and treated for this," Dunaif said.
She recently was awarded a $5 million, two-year grant from the National Institutes of Health to continue her ongoing research into the syndrome's genetic causes.
Symptoms of PCOS in women often show up in adolescence and may include irregular periods and excess hair on the face, chest or back - all caused by high levels of male hormones.