When the former NFL cheerleader Natalie Nirchi stopped menstruating at age 17, she was diagnosed with polycystic ovary syndrome (PCOS), a hormone disorder affecting up to 10 percent of women of reproductive age. She didn’t initially show any of the physical symptoms, like excess hair growth, cystic acne, or obesity, but a blood test revealed that she had high levels of testosterone and an ultrasound showed cysts on her ovaries.
“My doctor mentioned that one day I might have trouble getting pregnant, but didn’t offer any other information about the disorder,” Nirichi said. Other than the absence of her period, PCOS did not significantly impact her life until college, when she began experiencing shooting pains in her pelvis, mood swings, and rapid weight gain despite a rigorous exercise routine.
“It wasn’t like I turned 21 and started partying, it was like I turned 21 and all of a sudden, I was extremely depressed. No matter what I did, I just kept building this layer of extra weight around my midsection,” she said.
PCOS is genetic and presents differently in each woman of childbearing age. For some women, symptoms emerge shortly after they begin menstruating. Others may not show signs of the disorder until later in life, or after substantial weight gain, and many don’t receive a diagnosis until they are struggling to get pregnant. A community-based prevalence study published in 2010 found that approximately 70 percent of the 728 women in the cohort had PCOS, but had no pre-existing diagnosis.
Contrary to the implication of “polycystic,” some women with the condition don’t have any cysts. A diagnosis requires only two of the following three criteria to be met: elevated levels of male sex hormones (which can cause excess hair growth, acne, and baldness), irregular or absent periods, and/or at least 12 follicular cysts on one or both ovaries.
“If a woman has fewer than eight menstrual periods a year on a chronic basis, she probably has a 50 to 80 percent chance of having polycystic ovary syndrome based on that single observation,” said John Nestler, the chair of the department of internal medicine at Virginia Commonwealth University. “But if she has infrequent menstruation and she has elevated levels of androgens such as testosterone in the blood, than she has a greater than 90 percent chance of having the condition.”
When the syndrome was first described in 1935 by American gynecologists Irving Stein, and Michael Leventhal, it was considered a rare disorder. Today as many as five million women in the United States may be affected, according to the Department of Health and Human Services, but researchers are still just beginning to uncover the disorder’s full impact.
“Classically, we thought of PCOS primarily as an infertility disorder or a cosmetic annoyance, but we now know that it’s also a metabolic disorder and a serious long-term health concern,” Nestler said.
According to a recent study published in the Endocrine Society’s March 2015 issue of Journal of Clinical Endocrinology & Metabolism, women diagnosed with PCOS are twice as likely to be hospitalized for heart disease, diabetes, mental-health conditions, reproductive disorders, and cancer of the uterine lining. The cost of evaluating and providing care to women with PCOS is approximately $4.36 billion per year.
The definitive cause of PCOS is unknown, but researchers have found a strong link to insulin resistance, a genetic condition often associated with diabetes, in which the muscle, fat, and liver cells do not respond properly to insulin and thus cannot easily absorb glucose (sugar) from the bloodstream. As a result, the body produces higher and higher levels of insulin to help glucose enter the cells.
“The excess insulin that's being produced stimulates the ovary to make testosterone, which can interfere with ovulation, rendering many women infertile,” said Nestler. PCOS is the most common cause of infertility in industrialized nations. “The exact cellular and molecular mechanisms are still being explored and are not completely understood.”
In one study, insulin resistance was found in 95 percent of overweight women with PCOS and 75 percent of lean women with PCOS. Perhaps relatedly, women with PCOS have a more than 50 percent risk of getting Type 2 diabetes or pre-diabetes before age 40.
“We are seeing an explosion in polycystic ovary syndrome in adolescent girls, and I think it’s due to the fact that we are also seeing an explosion in obesity in adolescent girls,” Nestler said. “It’s quite possible that if those girls had remained a healthy weight, that they would still carry the genes that predispose them, but they wouldn’t be expressing the disorder.”
Healthy diet and exercise is the first line of intervention most doctors recommend for overweight women with PCOS. Research shows that a 5 to 7 percent reduction of body weight over a six-month period can lower insulin and androgen levels, restoring ovulation and fertility in more than 75 percent of patients.
Angela Grassi, a registered dietitian who also has PCOS, says that because women who are overweight are likely to experience more insulin resistance than those who are not, they can get locked into a cycle of weight gain. “The more weight you gain, the more corresponding insulin your body produces, and the more you continue to gain weight,” she said.
But this underlying metabolic dysfunction is at work even in women of a healthy weight, according to Daniel Dumesic, a reproductive endocrinologist at Ronald Reagan UCLA Medical Center.
“Research shows that unlike most women, lean women with PCOS tend to burn protein instead of fat while they’re sleeping. This might explain one of the reasons why despite their best efforts, it’s much harder for women with PCOS to lose weight,” he said.
Many doctors prescribe the drug metformin to help regulate the amount of glucose in the blood. The medication is traditionally used to treat Type 2 diabetes, as it makes the body more sensitive to insulin, and decreases the amount of glucose the liver releases. A meta-analysis published online in June in the journal Human Reproductive Update demonstrated that when metformin is combined with lifestyle modifications such as diet and exercise, it has been shown to help women with PCOS lose more body fat, achieve lower blood sugar, and improve menstruation better than lifestyle modification alone.
Regular menstruation is important for the prevention of endometrial cancer. Women with PCOS are three times more likely to have endometrial cancer than women without. When a woman isn’t menstruating on a frequent basis, the lining of the uterus (endometrium) can begin to grow excessively and undergo atypical cell changes resulting in a precancerous condition called endometrial hyperplasia. If left untreated, this can develop into full endometrial cancer. Hormonal birth-control pills are often prescribed to help women with PCOS shed their endometrium more regularly, an important measure for preventing the overgrowth of cells in the uterus.
“If a woman knows from a young age that she may have a more difficult time than her peers maintaining a healthy body weight and reproductive system, than she can make sustainable lifestyle changes early on,” said Dumesic.
Unfortunately, awareness of the condition is not widespread and many physicians do not perform the necessary diagnostic tests or recognize that PCOS has broad and potentially devastating consequences. According to the non-profit support organization, PCOS Challenge, Inc., PCOS awareness and support organizations receive less than 0.1 percent of the government, corporate, foundation, and community funding that other health conditions receive.
Only a small number of researchers receive funding to study PCOS and most of the money goes toward studying the infertility side of the disorder. Nestler says women would benefit if more of the funding went toward researching the metabolic mechanisms of PCOS that underlie the development of diabetes and heart disease.
Dumesic believes the complex metabolic, hypothalamic, pituitary, ovarian, and adrenal interactions that characterize the condition may be to blame for the deficit in PCOS specialists and researchers.
“When any condition crosses disciplines and doesn’t have a full investment in [one of them], it often falls through the cracks. There are elements of reproduction in PCOS, but most reproductive endocrinologists mostly do in-vitro fertilization and are not necessarily interested in metabolism. Medical endocrinologists, who are mostly interested in metabolism, aren’t usually interested in reproduction and ovarian function,” Dumesic said.
For women who don’t receive timely, appropriate care for PCOS in early adolescence, the development of symptoms such as facial-hair growth can become more challenging to treat. Brandy Cramer, 33, a program officer at The Cameron Foundation, from Midlothian, Virginia says her doctors told her she just wasn’t trying hard enough to lose weight and dismissed her when she requested they run blood tests or suggest alternatives to the birth-control pills that gave her intense migraines. Cramer grew facial hair and has only been able to remove 50 percent of it, even after expensive laser hair-removal treatment.
“I had no support or resources to learn how to manage my PCOS. It wasn’t until I was able to connect with other women who had it that I started to feel less isolated and learned how to advocate for myself,” said Cramer.
Gretchen Kubacky, a health psychologist who also has PCOS, says the condition has a significant impact on the mental health of her clients on both a situational and chemical level.
“Often times the cosmetic issues are huge, depending on the severity. When you summarize the typical PCOS patient as someone who is fat, has acne, and male-pattern baldness, that is definitely depressing, but that in and of itself is not enough to cause depression,” she said. “It’s the hormonal imbalances that have a real neurobiological affect on the brain and we have evidence that the excess of androgens in women is definitely linked to depression.”
Sara Eaton, a 30-year-old ballroom dance teacher based in Augusta, Georgia, says PCOS has had a significant impact on her health, body image, and self-confidence since she was diagnosed at age 15.
“It’s a frustrating, difficult, and sometimes heartbreaking thing to deal with,” Eaton said. Eaton’s PCOS has given her male-pattern baldness, acne, obesity, and skin tags. In spite of her challenging symptoms, she dances and works out several times a week. “There aren't many women who look like me who can get on the floor and move like I do, who are comfortable enough in their skin to step into the spotlight and demand that people look at them,” she said.
Until PCOS is better-understood, Eaton says women need to look out for themselves and their fellow “cysters.”
“Don't just trust what the first doctor you see says without doing some research,” she says. “Find another woman with PCOS, go online to some of these support groups. Find a reproductive endocrinologist who knows what they're doing. Talk to other cysters, read the articles, look for doctor recommendations. We have a syndrome that is so complicated and confusing, one of the best ways we can help ourselves is to be proactive and make sure we find the best and most knowledgeable caregivers available to us.”