As a teenager, Hillary Souza wasn’t especially concerned about her unpredictable menstrual periods. If they had to come, she said, coming sporadically wasn’t so bad. But as she passed through high school and into college, the irregularity lost its appeal. “It’s certainly not fun just out of the blue,” said Souza, of Mansfield, Mass., a suburb of Boston.
Yet by then, Souza — nee Green — was more concerned about another alarming problem. Never a rash eater, she suddenly started putting on weight during college, adding 30 pounds in about four years. She went to her doctor, who referred her to an endocrinologist, or hormone specialist.
The diagnosis: Souza has a textbook case of polycystic ovary syndrome, also known as polycystic ovarian syndrome or PCOS, an imbalance in reproductive hormones that affects an estimated 15 million American women and is a leading cause of infertility. That Souza was not diagnosed until her mid-20s isn’t surprising. Despite the fact that roughly 5% to 10% of women have the disorder, according to the National Institutes of Health, only in recent years have doctors come to recognize its prevalence and impact.
PCOS — named for the small cysts that cover the ovaries of many women with the disorder — is the result of an imbalance in two key hormones, FSH and LH, which regulate female fertility. Women with PCOS don’t ovulate regularly and typically have irregular menstrual periods, or none at all, reducing their ability to become pregnant. Indeed, patients generally discover they have the syndrome when they seek help for infertility.
Although PCOS runs in families, Jewish women don’t seem to face any disproportionate risk of developing the syndrome — unlike with breast or ovarian cancer. However, with the Jewish community’s emphasis on continuity, the emotional effects of fertility difficulties can be emotionally draining for women under pressure to conceive. This is particularly pronounced among Orthodox women.
“The Orthodox community comes in for fertility concerns much earlier than the general population,” said Dr. Daniel Stein, a reproductive endocrinologist and director of the In Vitro Fertilization Program at St. Luke’s-Roosevelt Hospital Center in New York. Whereas the typical woman waits until she’s in her mid-30s to see a fertility specialist, Orthodox women show up at his office in their early 20s, said Stein, who sees many Orthodox women at his practice. “They will come in after they have been married for a year and have not conceived.”
But there are other warning signs that a woman may have the syndrome. Because women with PCOS frequently produce unusually large amounts of male sex hormones such as testosterone, they are prone to acne, facial and body hair and even baldness. They are frequently but not always obese, often gaining weight around the midsection in a manner known as “truncal” obesity.
That much has been known for nearly 70 years about PCOS — formerly called Stein-Leventhal syndrome, after the physicians who first described it in 1935. More recently, however, researchers have learned that many women with PCOS also face a more serious health threat: abnormal insulin function.
Insulin is a hormone that helps the body convert sugar into energy. When insulin levels are too low or cells don’t respond to the hormone — two features of diabetes — the consequences can include blindness, kidney damage, strokes and heart attacks.
“Women with severe insulin resistance are at increased risk of heart disease, diabetes and stroke. However, all the chances of any of these conditions developing can be lessened with treatment,” Stein said. Knowing a woman’s PCOS is related to insulin resistance, he noted, doesn’t change how he approaches her infertility issues. “But for those with a metabolic aspect, you have to give it the time it requires.”
Fortunately, it’s possible to correct problem insulin before it causes too much damage. This can be done with relatively simple lifestyle changes, such as losing weight and exercising regularly. And there are drugs like metformin that make cells more responsive to insulin.
Metformin, which won regulatory approval to treat diabetes in this country in the mid-1990s, also seems to trigger ovulation in some women with PCOS, supporting the recent theory that the fertility problem is linked to insulin resistance, Stein said. “Many women on metformin alone will induce regular menses.”
However, the drug, which hasn’t been expressly approved for PCOS, causes unpleasant side effects such as nausea that force many to stop the treatment. Souza, for one, found the three-dose-a-day regimen her doctor prescribed too burdensome, and while the drug helped, she often failed to follow the regimen strictly. “There still are a lot of holes in our understanding of polycystic ovary syndrome,” said Stein.
Beth Kushnick, 42, is the poster child for how to — and how not to — take care of polycystic ovary syndrome.
Kushnick didn’t realize she had the disorder until she was 30 years old, and even then she discovered it only by doing her own research — all the more difficult in the pre-Internet age. Sporadic periods, spiking weight and the “male pattern things” pointed to the PCOS, she said. But at the time, so little was known about the syndrome that it then fell under the broad umbrella of rare conditions.
For the past 12 years Kushnick, a set decorator for feature films, has taken on the role of educator for women with PCOS. She helped found the Polycystic Ovarian Syndrome Association (also known as PCOSupport), a patient group, and then organized a committee on PCOS for the American Infertility Association.
Under the auspices of the American Infertility Association she and a colleague now run a wellness program in Manhattan. The aim of the four-week session is to help women come to terms with the disorder — what it means and, equally important, what it doesn’t mean for their ability to lead a normal life. Since PCOS is a syndrome encompassing several illnesses, it has no single cure. But it’s possible to tackle its various symptoms — from the sex-hormone problems to the infertility — with both medication and healthy habits. Women are taught how to eat an insulin-friendly, low-carbohydrate diet and also taught the benefits of regular exercise, even if they’re not overweight. In addition, they’re given an ample dose of emotional coaching and advice on ways to reduce stress.
“My goal is to stop the all-encompassing labeling of what a woman is with PCOS,” Kushnick said. “Yes, you have a hair issue, you have a weight issue, it’s not a feminine feeling. But everything that happens to you physically is not part of PCOS. The minute people think they’re not the only woman on the face of the earth walking around with this reproductive and genetic disorder, that is almost an immediate cure for moving along with your life.”
How far along can someone move with PCOS? Kushnick’s daughter, Abbey, will be celebrating her second birthday next month. Souza’s daughter, Veronica, is about a month behind.