Why an ovary disorder may get a new name: Men can have it, too

Few things will give a man as much of an insight into the female body as growing up with sisters. Painful, irregular periods, body hair, skin trouble: Al Barrus, a 43-year-old veteran and communications specialist from New Mexico, heard all about it growing up, the only male of three siblings. He’s also known for a while that one of his sisters had been diagnosed with polycystic ovary syndrome, an endocrinological disorder and leading cause of infertility associated with a range of issues including high androgen levels, insulin resistance, and enlarged ovaries. His other sister, too, had some PCOS symptoms. 

Recently, he’s begun to wonder: Could he have it, too? 

Not exactly PCOS but a “male form.” Where women with PCOS’ levels of androgen are too high, his are too low; rather than hirsutism (excess body hair), he has sparse body and facial hair and began going bald as a teenager. He has other issues similar to the ones that can appear in women with PCOS: high levels of the hormone prolactin, suspected insulin resistance, obesity, mental health struggles. 

“Do you think there is a male version of PCOS that just hasn’t been named yet?” he asked on Reddit, where he went to share his experience and find other men who may be experiencing similar situations. Several users responded, including a few women sharing that their brothers had symptoms similar to the ones he described. Elsewhere on the platform, however, the question was not given much credit. “PCOS is a condition that affects ovaries, so if you don’t have ovaries then it’s not PCOS,” one Reddit user responded. “Clues in the name,” wrote yet another dismissively. 

Researchers and clinicians are more accepting of the idea that the common understanding of PCOS is misguided. In fact, a quiet effort to change the syndrome’s name was launched more than a decade ago and is nearing completion, driven in part by growing evidence of a male version. 

The authors of a 2023 article in the journal Fertility and Sterility — titled “Tis but thy name that is my enemy,” after a line from “Romeo and Juliet” — take issue with the designation of polycystic ovary, calling it “incorrect and misleading.” For one, ovaries don’t show cysts, but arrested follicles, and they are a nonspecific feature relatively common in younger patients, and should not be used as a primary indicator of the condition. Further, the authors argue, the name frames the condition as primarily reproductive when it’s more complex, involving issues including cardiometabolic, psychological, and dermatological.

The authors suggested replacing PCOS with one of two options: reproductive metabolic syndrome, or as a less preferred alternative, polygenic cardiometabolic ovarian syndrome. The latter would maintain the acronym, making it easier to disseminate in the medical community, but it places a focus on the ovarian component that would completely fail to capture something else: that “a male polygenic risk score and metabolic phenotype has also been described in the absence of ovaries.” 

Does that mean there is such a thing as male PCOS? 

How a condition of the ovaries may affect men

PCOS is both too narrow a name, and overly broad. It’s believed to affect up to 13% of reproductive-age women, but the World Health Organization estimates that most cases — about 70% — go undiagnosed. It manifests with a complex range of symptoms: weight gain, acne, hirsutism, irregular and painful periods, mental health issues. Women with PCOS have high levels of androgens and typically experience anovulation — their ovaries don’t release eggs, which causes infertility. They may also have a higher risk of developing diabetes and other metabolic conditions, as well as increased risk of cardiovascular disease after menopause. 

The syndrome runs in families, but the root cause is unknown, and there isn’t a cure. To manage symptoms, patients are advised to follow lifestyle interventions, often combined with a hormonal pill, and they’re warned that getting pregnant may be challenging, risky, and require medical intervention. In more severe cases, PCOS can be devastating for the person’s self-esteem and quality of life. 

Diagnosis isn’t straightforward. The latest diagnostic criteria were established in 2003, when a group of 27 experts met in Rotterdam, The Netherlands, and reached a consensus on the characteristics necessary to indicate the condition. A patient needs to have two of the following three symptoms to get a PCOS diagnosis: ovulatory dysfunction, androgen excess, and a polycystic ovarian morphology on ultrasound. 

These criteria lead at once to over- and under-diagnosis, said Okan Bülent Yıldız, a professor of medicine and endocrinology at Hacettepe University in Ankara, Turkey.  

What causes overdiagnosis is the polycystic presentation of the ovary, which is very common. “One out of three women have the polycystic ovarian morphology, but many of them do not have the disorder,” said Yıldız. 

Adolescents and younger women in particular have this morphology, said Jia Zhu, an assistant professor of pediatrics at Boston Children’s Hospital. “When they grow out of adolescence, out of young adulthood, the cystic ovary appearance is resolved,” she said. 

At the same time, the focus on ovulation and the ovaries misses the effects of the condition after menopause, as well as a central issue common in patients: metabolic disruptions. “PCOS is a metabolic disease,” said Yıldız, who co-wrote a highly cited article proposing this view for Nature in 2024. “The metabolic part is not included in the diagnostic criteria, but it is very important for people with PCOS.” When the article was published, it got the kind of viral reach scientific papers hardly see, reaching 1.6 million views on X alone, said Bulent. “It was not just scientists or clinicians, but the lay public, they were very happy to hear that this is not just a disorder of ovaries,” he said. 

This reframing is inclusive of older women and women who experienced the symptoms without ovarian disruptions, as well as men — whether or not they are related to women with PCOS — with some caveats. 

The understanding of PCOS as a metabolic disease started with studies of whole families, rather than just individual women with the syndrome. The first study, published in 2003, looked at first-degree relatives, both male and female, of women with PCOS; it found that more than half of the fathers and the mothers had prediabetes and diabetes, while a majority of both brothers and sisters had insulin resistance. Follow-up research confirmed these findings, and the most recent guidelines recommend that when clinicians see patients with PCOS, they screen fathers and brothers as well for metabolic disorders.

“Obviously these metabolic alterations were running in the families, including the male members,” said Yıldız. He thinks of it as an overarching condition that can manifest differently in men and women, each associated with specific symptoms, long-term risk factors, and potential treatments. 

“At present, this condition is diagnosed as PCOS in women; in men, similar features, especially in relatives, reflect shared genetic and metabolic pathways rather than a formally defined syndrome,” he said.

Barrus would be the classic case. Looking at his broader family history, he sees that it’s his father and his side of the family that experienced hormonal imbalance issues, as well as the mental health challenges Barrus struggles with. He wonders whether he may pass on some of it to his two children. But his doctor “seemed to be pretty clueless about this,” he said, though many people responding to his Reddit post shared anecdotal stories of men showing hormonal and metabolic imbalances that mirrored those of women with PCOS. (“It’s like our hormones were swapped or something, and we both ended up screwed,” wrote a poster about her brother.) 

How a male version of PCOS would look, if indeed it exists, remains unclear. Research to identify markers and the presentation of a male phenotype of the syndrome has found that men in PCOS families have elevated levels of dehydroepiandrosterone sulfate (DHEA-S), an adrenal androgen, and androgenic alopecia at an early age. It’s not sufficient to make diagnoses, however. 

“When you look at the prevalence of androgenic alopecia in men, it’s almost 30%. When you look at the prevalence of PCOS, it’s just 13%,” said Yıldız. “So obviously some men with androgenic alopecia have male PCOS as well, but we need more markers to determine which men have both.”

Zhu’s work involves identifying genetic markers of the syndrome. Her research looked for genetic variants linked with increasing risk for PCOS in women, then found what those same variants were associated with in men in the general U.K. population. She found that men who had the same variants also had increased risk for type 2 diabetes, obesity, and cardiovascular disease.

“PCOS as a condition is defined by the ovaries, by irregular menses, but it seems, at least the genetics suggest, [that] is just one part of that picture,” said Zhu. “I feel like we’re missing a population where we could do more research, where we could offer more intervention and treatment. That’s the men and even the children who are at risk of PCOS and the related metabolic conditions,” she said.

There are questions about this research. The idea that phenotypes could be a valid approach to understand conditions such as PCOS that are caused by multiple genes is being challenged, said Helena Teede, a professor of women’s health at Monash University in Australia. Though further research could shed more light on implications of PCOS in men, there is a risk of moving the focus away from women, who are the ones who are chiefly affected by the condition. 

“One in eight women are affected by this, and quite profoundly, and to have this then sidetracked — that there may be a metabolic subtype in males …” said Teede, “that’s not going to change the very significant impact and neglect that this condition has had in women’s health for a long time.”

A new name for a new understanding of PCOS

It is befitting for the 2023 article proposing new names for PCOS to quote Shakespeare, given his plays’ intricate plots and intrigue. The process of changing the name has involved complex negotiations between multiple stakeholders — researchers, clinicians, patients — each with their own interests and goals. 

It has been shrouded in secrecy, and researchers serving on working groups are bound by a nondisclosure agreement and unable to share any detail on a new name until it is officially announced. “It’s a huge process, but it’s moving forward and we are close to the final,” Yıldız said in December. Earlier this year, the group overseeing the effort, after voting by thousands of stakeholders, indicated a name would be announced in February. The deadline was then extended, and those directly involved in the decision have been careful to avoid media intrusions. 

“It is a big process, changing the name of a disorder,” said Yıldız. “You need to think very carefully.” 

To be sure, medical terminology does change, and often enough. The Systematized Nomenclature of Medicine — Clinical Terms (SNOMED CT), the organization that determines global standards for health terms, receives up to 2,000 requests to amend nomenclature every year, either from individual members or groups. “We have these specialty groups called clinical reference groups that essentially review parts of the terminology on a regular basis and look for updates and changes that need to be made to conform to the current medical practice,” said Jim Case, SNOMED CT’s chief terminologist. 

These requests typically don’t require changing the name, but rather editing its definition — for instance, the primary feature of a condition may need updating, or research may have found new aspects of a disease. “What we might do is add new content, add a synonym, rearrange the place of a concept in the hierarchy because it was either misplaced or we’ve got new information,” said Monica Harry, SNOMED CT’s director of content and mapping. This is relatively easy to do, and about 95% of the change requests are satisfied.

A name change, however, is a rarer and more complex process, involving many stakeholders. It can take years to get to a consensus, and then updating the terminology database and all the references to the condition can take time, too. A recent example is arginine vasopressin deficiency (AVP-D) and arginine vasopressin resistance (AVP-R), the conditions formerly known as diabetes insipidus.

The older nomenclature created confusion with diabetes mellitus, or what is now simply known as diabetes, though the conditions are different in cause, symptoms, and treatment. The diseases had gotten their names when they were both diagnosed through excessive urination — diabetes means siphon in Ancient Greek. In one case, the urine tasted “honey-sweet” (mellitus), while in the other it was insipid. After the confusion led to a deadly medication error, patient advocates pushed for the name change, a process that took three years.

For PCOS, it has taken even longer. When the new name is announced in the next few weeks, it will be the fourth for the condition. Once the Stein-Leventhal syndrome, named after the two researchers who were crucial to framing and popularizing the syndrome, it was renamed polycystic ovary disorder (PCOD), so that its name more easily captured the nature of the issue, and then again to account for the fact that it’s a syndrome with complex presentation, not merely a disorder.

In 2012, a National Institutes of Health panel all but proposed a new name, and brought new urgency to renaming efforts, but agreement on a new name proved so elusive  — and to some, unnecessary — that the quintessential non-deal was evoked as a possibility: a “two-state” (that is, two-name) solution, with PCOS applying to the cases with reproductive issues, and another, to-be-decided name applying to other instances. 

Eventually Teede, at the Centre for Research Excellence in PCOS at Monash University, spearheaded the latest renaming effort. There were different priorities at play, and though many wanted to move away from the mention of the ovaries, the change was controversial. “I’ve met a group of experts in PCOS who feel that for a lot of women with PCOS, ovaries are very central,”said Zhu. “They have strong feelings about renaming it.” 

“What we tried to do initially was determine should the name be changed, and we kept getting to the point where everyone agreed it should — and I mean by massive global surveys and workshops and all — but everyone kept stumbling at what it should be changed to, because it was all about individual opinions,” said Teede, “and some voices were louder than others, and no one was considering cultural implications for people around the world.”

So Teede built a robust evidence-based process involving close to 8,000 people, between researchers, clinicians, advocacy groups, and patients, to first get the mandate for a change, then agree on how to go about it. Remarkably, they reached a consensus. 

“It is the most extensive engagement and the most robust process ever used in a name change for any condition,” said Teede, adding that other groups trying to change names of other conditions are using their process as a template. 

All stakeholders had an opportunity to add their input, and the question of sex was considered not just because of the research on potential male patients. “There was a very strong message from people affected by the condition that they wanted to do two things: They wanted to recognize this was a condition that predominantly affects females — and it’s true, the manifestations of this condition are unequivocally much more profound in females — but they also didn’t want it to be something that was gendered, because there are many people who are females who were not, don’t identify as women,” said Teede.

As part of selecting a name, the group identified the words various stakeholders find unacceptable, which include “androgens,” “hormones,” “imbalance,” and descriptive terms such as “hyperandrogenic chronic anovulation,” “estrogenic ovulatory dysfunction,” and “functional hyperandrogenism.” One of the final steps was to check that the name doesn’t hold an offensive or misleading meaning in other languages, including as an acronym.  

It took more than a decade, but at last, there is a name, though it is still tightly under wraps “pending submission to a journal for publication,” said Robert Norman, a professor emeritus of reproductive and periconceptual medicine at Adelaide University and one of the experts who worked on selecting a new name. He declined an interview request: “I think you would find it frustrating talking with us when we are not going to reveal the new name yet!” 

After learning of the incoming name change from STAT, SNOMED CT contacted the working group for confirmation, though the organization was also unable to get in on the secret. Case said he was told something along the lines of, “there is an agreement, but we can’t tell you the name, otherwise we’d pretty much have to kill you.” 

STAT’s coverage of health challenges facing men and boys is supported by Rise Together, a donor advised fund sponsored and administered by National Philanthropic Trust and established by Richard Reeves, founding president of the American Institute for Boys and Men; and by the Boston Foundation. Our financial supporters are not involved in any decisions about our journalism.