The often ignored 'orphan disorder'

PCOS is linked to both reproductive and metabolic dysfunction and is estimated to affect one out of every 10 women of reproductive age worldwide, including some 6 million Americans.

According to researchers in the field, PCOS research has been considered an often ignored "orphan disorder" in large part because it isn't as well funded as other women's health issues, which is an area that's already under-resourced.

One recent study found that average funding for PCOS from 2016 to 2022 was around $32 million compared to $262 million for rheumatoid arthritis and $66 million for tuberculosis, despite the diseases having similar or even lower numbers of cases, degrees of poor health, and deaths.

Research has also found that women of reproductive age with PCOS have an increased risk of diabetes, are nearly twice as likely to have high blood pressure, and are up to three times as likely to develop serious heart issues like blocked arteries or heart attacks, Johnson reports. PCOS patients also have an increased risk of endometrial cancer, partly because hormonal imbalances can prevent the uterus from regularly shedding its lining.

In addition, a study published last year that followed 907 female participants between the ages of 18 and 30 for 30 years found that those with PCOS scored an average of 11% lower on memory, verbal, and attention tests, suggesting the condition could be linked to cognitive decline.

The condition is often missed by healthcare providers and misunderstood by patients. To receive a complete PCOS diagnosis, patients must meet two of three conditions: irregular periods, elevated male hormones, and/or ovaries with fluid-filled sacs that contain an immature egg.

According to Morine Cebert, a family nurse practitioner who helps families facing infertility, around 30 of the 75 patients she's seen over the last year have told her they have PCOS, but once she asks if they've ever had hormone testing or an ultrasound to look at their ovaries, they typically say no.

"It's definitely something I feel like is being diagnosed through conversation not necessarily through a proper workup," said Cebert, who didn't become familiar with PCOS until she completed a doctorate in reproductive endocrinology.

Heather Huddleston, a professor and director of the University of California San Francisco's multidisciplinary clinic and research center for PCOS, said one reason many providers don't know how to treat PCOS is because it doesn't fit neatly within one specific specialty.

Ideally, a patient would be referred to a reproductive endocrinologist or a gynecologist specializing in hormone disorders. But the field "has become so fertility-, IVF-focused that the vast majority of providers don't want to see or aren't seeing patients with PCOS," Huddleston said.

As a result, patients are left seeking answers from healthcare providers who aren't trained to recognize PCOS' health risks and how to manage them.

Labs run testosterone analyses differently, as there's no universal range of "normal" for women, Cree said. As a result, a woman could be diagnosed with PCOS at one lab but not at another. Cree added that around half of all PCOS cases go undiagnosed.

Treatments and misinformation

Currently, there is no cure or FDA-approved treatment for PCOS, and experts warn of misinformation in the PCOS space.

Some vitamins and supplements, like inositol, a glucose isomer, have been supported by some research as a treatment for PCOS. But experts said the majority lack strong clinical evidence despite claims often made online.

Richard Legro, chair of the department of obstetrics and gynecology at Penn State Health Milton S. Hershey Medical Center, said that while there isn't a cure or approved treatment for PCOS, researchers have identified things that do and don't help. Legro has worked with other experts to develop international guidelines for assessing and managing PCOS.

"There's a lot of misinfo out there that precedes and will survive any guidelines," Legro said.

Since there hasn't been much research investment into PCOS, providers have utilized existing tools to manage the condition, including metformin, a medication that improves insulin sensitivity and is primarily used for diabetes.

Cree is working in her research to identify possible treatments and how to best diagnose PCOS. She started a clinical trial in 2023 that treats PCOS with a low dose of semaglutide, the weight-loss drug often sold under the brand name Ozempic or Wegovy. Preliminary results have shown that women have lost weight and seen their testosterone levels drop, as well as having their periods return.

Grace Hamilton, a 27-year-old participant in the trial with PCOS, told an advisory council that helps shape NIH's research agenda, that the trial was a turning point for her.

Within two weeks of starting the medication in 2024, Hamilton said her period returned and stayed, and that her hair started growing back. "What's more important is my body is finally functioning," she said.