When Sasha Ottey was diagnosed with polycystic ovary syndrome a decade ago, she learned that it affects at least 10 percent of women and is a leading cause of infertility, not to mention a major risk factor for diabetes, heart disease, and high blood pressure.
Yet many people, including doctors, had never heard of PCOS.
Ottey, now 38, quit her job as a microbiologist and founded PCOS Challenge: The National Polycystic Ovary Syndrome Association, which has grown to 50,000 members.
The nonprofit, based in Atlanta, where Ottey lives, is working hard to lift PCOS out of obscurity. And if popular culture is an indicator, the disorder is on the cusp: Millions of viewers have been touched by Kate's struggles with PCOS-related obesity and infertility on the NBC hit show "This is Us."
Still, this enigmatic reproductive and metabolic syndrome continues to be understudied, underfunded, and underdiagnosed. Even the name is problematic, because experts now realize that some women with the syndrome don't have ovarian cysts and that some with cysts don't have the syndrome.
"I want a precise name. I don't like the name. But changing the name is controversial," said Katherine Sherif, a PCOS specialist at Thomas Jefferson University. "A reason to keep the name is that physicians and women are finally becoming more aware of what it is."
PCOS Challenge and its allies have helped. Last month, for example, the organization persuaded people at some iconic landmarks around the world _ including Calgary Tower, Perth Concert Hall, and Niagara Falls _ to light them in teal, the PCOS awareness color.
Ottey and about 25 "cysters" gathered at the foot of the Philadelphia Electric Company building on Sept. 1 while its crown lights intermittently scrolled "World PCOS Day." After speeches, a group posed with an aspirational banner: "Make polycystic ovary syndrome a public health priority."
"For too long," Ottey said, "PCOS has been a silent epidemic."
Exactly what causes PCOS remains unclear. It is a set of endocrine and metabolic defects, probably caused by one or more genetic flaws. Although the severity varies, sufferers have excessive male hormones, particularly testosterone, and rarely ovulate _ which may or may not lead immature eggs to form cysts. Symptoms may include irregular periods, obesity, male-pattern hair growth or hair loss, and acne.
Despite the puzzles, University of Pennsylvania obstetrician-gynecologist Anuja Dokras, leader of the Penn Polycystic Ovary Center, is among those who see progress.
"A lot has changed over the past 20 years," she said. "It may not look like that on the surface. But there has been an explosion in research. The pharmaceutical industry is now interested. And there is a recognition of the metabolic and emotional issues" that come with PCOS.
That complexity was not appreciated when the syndrome was first described in 1935 by two American gynecologists, who believed it to be rare.
To address the intricacy _ and to improve diagnosis and treatment _ PCOS experts from around the world in July issued the first international clinical guidelines. Diagnosis requires two of three crucial criteria: elevated male sex hormones, periods that are irregular or rare, and at least 12 follicular cysts on one or both ovaries.
The guidance covers the gamut of complications, including sleep apnea, eating disorders, depression, and endometrial cancer. It also reflects ongoing debate about the mainstays of management.
Contraceptive pills containing estrogen and a progestin are the first-line therapy because they suppress testosterone and regulate periods. But many experts advocate adding or substituting metformin, a diabetes drug that reduces insulin resistance, the aspect of PCOS that makes women susceptible to obesity, diabetes, hypertension, and heart disease.
"Several times a week, women tell me their ob-gyn said, 'Take the birth control pill and come back when you want to get pregnant,' " Sherif said. "But my go-to drug is metformin, because I hope to treat the underlying problem. When you are less insulin-resistant, you make less testosterone."
Dokras, the Penn specialist, said she and Richard Legro, a Penn State College of Medicine reproductive endocrinologist, are about to launch a government-funded study "to see whether birth control or metformin is best."
A newer area of research involves anti-Mullerian hormone, a substance made by cells in the ovarian follicles that is elevated in most women with PCOS. In May, French scientists published a study _ conducted in mice _ that suggests high AMH levels during pregnancy may reprogram the fetus and trigger PCOS in adulthood. The researchers reversed PCOS symptoms in maturing mice using cetrorelix, a fertility drug. The findings, they wrote, offer "a new potential therapeutic avenue to treat the condition during adulthood."
The advocates, meanwhile, are lobbying for research funding on a par with the toll of PCOS. It "affects more women than breast cancer, rheumatoid arthritis, multiple sclerosis, and lupus combined," says their change.org petition.
