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Look up polycystic ovary syndrome, or PCOS, and every definition you find will state that the hormonal disorder manifests in women and people with ovaries of reproductive age. There’s much that scientists still don’t know about PCOS, including how to cure it. But if you do know one thing about the condition, I’d guess that it’s the fact that it occurs in women. Unfortunately for the rest of the spectrum of ages and genders, there’s more to the story. PCOS can affect men and children, too.
PCOS is a hormonal condition that affects roughly 1 in 10 women between the ages of puberty and menopause. It’s marked by an imbalance of reproductive hormones: Women with PCOS often have elevated androgens, the sex hormone responsible for “masculine” traits like excess body hair, acne, and male-pattern hair loss. The hormonal imbalance then disrupts ovulation. Despite its name, women diagnosed with PCOS don’t always have ovarian cysts. But some symptoms are highly suggestive of PCOS, including irregular or missed periods, excessive hair growth on the face and body, acne, weight gain, and difficulty conceiving.
Some researchers are studying the emerging understanding that PCOS isn’t just a women’s condition, but a metabolic disorder affecting people of all genders—and one that could be detected as early as childhood. “For decades, we’ve seen that first-degree male relatives of women with PCOS are also affected,” says Jia Zhu, a pediatric endocrinologist at Boston Children’s Hospital. There are broader metabolic mechanisms at play that aren’t limited to ovarian function, Zhu says.
While people without ovaries can’t technically be diagnosed with PCOS, research shows they can inherit the same genes that cause PCOS in women, leading to what scientists call the “male equivalent of PCOS.” When men inherit these PCOS genes, they don’t develop reproductive problems like their female relatives would. Instead, they may have metabolic problems like obesity and insulin resistance, which increase their risk of diabetes and heart disease. Early male-pattern baldness is also associated with PCOS genes.
Given how common obesity, diabetes, and heart disease are, how can physicians be sure these metabolic problems in men are related to PCOS genetics? It’s all about specific patterns (like early baldness and metabolic dysfunction) and not isolated symptoms. And there’s one particular genetic research tool, the polygenic risk score, which proves especially helpful.
The risk score helps physicians understand how PCOS genetics work in both women and men. It measures how much a person is inherently prone to a disease based on the combined effect of multiple genes, considering hundreds or thousands of tiny differences across the entire length of a person’s genetic material. In their 2021 study, Zhu and her team observed a 9 percent increase in the odds of obesity in men for every meaningful increase in the polygenic risk score.
Research also shows that the condition is less age-dependent than previously thought. Children who have a mother, sister, or other close relative affected by PCOS can develop symptoms themselves, Zhu says. “The clinical risk factor is the early development of pubic or [armpit] hair growth before the age of 8 in girls,” she explains. Boys who have genetic exposure to PCOS tend to reach puberty at an earlier age as well. Kids of all genders with higher polygenic risk scores have been shown to have higher body mass index and increased fat mass.
For now, no standardized approach exists for diagnosing or treating the PCOS equivalent in men and children. Though PCOS is a lifelong disorder with noticeable symptoms, clear-cut diagnosis can only be made in women of reproductive age who have irregular cycles and high androgen levels, says Andrea Dunaif, an endocrinologist at Mount Sinai. “We don’t have really good contrasting traits to make a diagnosis in anybody other than women of reproductive age,” Dunaif notes.
Without available tests, Dunaif says parents whose children may have genetic exposure to PCOS should monitor them closely for symptoms, especially rapid weight gain. Obesity can make the other metabolic and reproductive symptoms of PCOS worse, Dunaif says, and it’s more effective to prevent weight gain than to treat high body weight.
Zhu hopes we won’t have to rely on that type of symptom-spotting for long. “My ultimate goal is to be able to identify children who have genetic predisposition to PCOS and provide targeted and personalized counseling, and potentially even provide therapeutic options that can be tailored to their genetics,” she says.
There might come a day when the definition of PCOS will be unrecognizable from today’s ovary-centric view. What we now call a women’s reproductive disorder may be reframed as a metabolic condition that affects entire families, with treatments guided by genetics and not just gender. Until then, at least people with ovaries aren’t in the fight alone.
