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

Growing up with sisters gave Al Barrus, a 43-year-old veteran and communications specialist from New Mexico, unique insights into the female body. As the only male among three siblings, he learned about painful, irregular periods, body hair, and skin issues. One of his sisters was diagnosed with polycystic ovary syndrome (PCOS), a leading cause of infertility linked to high androgen levels, insulin resistance, and enlarged ovaries. His other sister also exhibited some PCOS symptoms.

Recently, Barrus began to question whether he might have a “male form” of PCOS. Unlike women with high androgen levels, his are low. Instead of excess body hair, he has sparse hair and started balding in his teens. He also experiences high prolactin levels, suspected insulin resistance, obesity, and mental health issues—symptoms similar to women with PCOS.

Seeking answers, Barrus turned to Reddit, asking, “Do you think there is a male version of PCOS that just hasn’t been named yet?” His post received mixed reactions. Some users shared stories of male relatives with similar symptoms, while others dismissed the idea, noting that PCOS affects ovaries, which men do not have.

Despite skepticism, researchers and clinicians increasingly recognize that the standard understanding of PCOS may be flawed. Over a decade ago, efforts began to rename the syndrome, partly due to growing evidence of a male equivalent.

A 2023 article in the journal Fertility and Sterility titled “Tis but thy name that is my enemy” criticizes the term polycystic ovary as “incorrect and misleading.” The authors argue that ovaries do not have cysts but arrested follicles, a common and nonspecific trait in younger patients. They propose that the name should reflect the syndrome’s broader implications, including cardiometabolic, psychological, and dermatological issues.

They suggest two new names: reproductive metabolic syndrome or, less preferably, polygenic cardiometabolic ovarian syndrome. The latter keeps the acronym PCOS but still emphasizes the ovarian component, failing to account for the male phenotype described without ovaries.

How a condition of the ovaries may affect men

PCOS is both a narrowly defined term and an overly broad condition. It affects up to 13% of women of reproductive age, although the World Health Organization estimates that 70% of cases go undiagnosed. Symptoms include weight gain, acne, hirsutism, irregular and painful periods, and mental health issues. Women with PCOS have high androgen levels and often experience anovulation, leading to infertility. They also face increased risks of diabetes, metabolic conditions, and cardiovascular disease post-menopause.

The syndrome is familial, yet its root cause remains unknown, and there is no cure. Management involves lifestyle changes, often paired with hormonal treatments. Pregnancy can be difficult, risky, and might require medical intervention. Severe PCOS can severely impact self-esteem and quality of life.

Diagnosing PCOS is complex. The criteria set in 2003 in Rotterdam require two of three symptoms: ovulatory dysfunction, androgen excess, and polycystic ovarian morphology on ultrasound.

These criteria can lead to both over- and under-diagnosis, according to Okan Bülent Yıldız, a professor of medicine and endocrinology at Hacettepe University in Ankara, Turkey. The polycystic ovary appearance is common, with one in three women having it, though many do not have the disorder.

Jia Zhu, an assistant professor of pediatrics at Boston Children’s Hospital, notes that adolescents and young women often exhibit this morphology, which resolves as they age.

Focusing solely on ovulation and ovaries also overlooks post-menopausal effects and metabolic disruptions. “PCOS is a metabolic disease,” Yıldız stated, co-authoring a widely-read 2024 article in Nature. The article reached 1.6 million views, resonating with both scientists and the public, highlighting that the syndrome is not just an ovarian disorder.

This view includes older women and those without ovarian symptoms, as well as men with similar genetic and metabolic profiles. Research on families, rather than individuals, began to reveal these patterns. A 2003 study found that more than half of the parents of women with PCOS had prediabetes or diabetes, and many siblings had insulin resistance. Follow-up studies confirmed these findings, leading to recommendations for screening male relatives of PCOS patients for metabolic disorders.

Yıldız views it as a comprehensive condition manifesting differently in men and women, with distinct symptoms, risks, and treatments. For now, a male version remains undefined, but familial patterns suggest shared genetic and metabolic traits.

Barrus exemplifies this pattern, noting hormonal imbalances and mental health issues on his father’s side. Concerned about his children’s inheritance, he finds his doctor uninformed. His Reddit post drew stories of men with similar issues, echoing his experiences.

The male phenotype of PCOS, if it exists, lacks clarity. Some research shows men in PCOS families have higher levels of dehydroepiandrosterone sulfate (DHEA-S), an adrenal androgen, and early-onset androgenic alopecia, but these findings are insufficient for diagnosis.

Yıldız noted, “Androgenic alopecia affects about 30% of men, while PCOS affects 13% of women. Some of these men may have male PCOS, but more markers are needed to identify them.”

Jia Zhu’s research seeks genetic markers linked to PCOS. Her study found that men with these genetic variants also faced higher risks of type 2 diabetes, obesity, and cardiovascular disease.

“PCOS is defined by ovarian symptoms, but genetics suggest that’s only part of the picture,” said Zhu. “We’re missing potential research and treatment opportunities for men and children at risk of PCOS-related metabolic conditions.”

Questions remain about the research. Helena Teede, a professor of women’s health at Monash University, challenges the idea that phenotypes can explain multifactorial conditions like PCOS. While further research could illuminate male implications, it risks distracting from women who are predominantly affected.

“One in eight women are profoundly affected by this condition. Focusing on a male subtype doesn’t change its significant impact and the historical neglect of women’s health,” Teede emphasizes.

A new name for a new understanding of PCOS

The 2023 article proposing new names for PCOS quotes Shakespeare, reflecting the complex negotiations among researchers, clinicians, and patients. The renaming process has been secretive, with nondisclosure agreements binding participants until an official announcement. “It’s a huge process, but we’re nearing completion,” Yıldız said in December. The group announced a name would come in February, but the deadline was extended to avoid media leaks.

“Renaming a disorder requires careful thought,” Yıldız stated.

Medical terminology changes frequently, often through the Systematized Nomenclature of Medicine — Clinical Terms (SNOMED CT), which receives up to 2,000 change requests annually. These typically involve definition edits or updates based on new research, explained Jim Case, SNOMED CT’s chief terminologist.

Most changes do not involve renaming but rather updating definitions. “We might add synonyms or reposition concepts based on new information,” said Monica Harry, SNOMED CT’s director of content and mapping.

Renaming is rarer and more complex, involving many stakeholders and years of consensus-building. Updating databases and references also takes time, as seen with arginine vasopressin deficiency and resistance, formerly known as diabetes insipidus. The previous name caused confusion with diabetes mellitus and led to a fatal error, prompting a three-year name change process.

For PCOS, renaming has taken even longer. When announced, it will be the fourth name for the condition. Originally known as Stein-Leventhal syndrome, it became polycystic ovary disorder (PCOD) to better describe its nature, and later PCOS to reflect its complex presentation.

A 2012 NIH panel nearly proposed a new name, but consensus was elusive. A two-name solution was considered, with PCOS applying to reproductive cases and another name for others.

Helena Teede, leading the latest renaming effort at Monash University’s Centre for Research Excellence in PCOS, faced conflicting priorities. Some experts felt ovaries were central for many women with PCOS. “They have strong feelings about renaming it,” Zhu noted.

“Initially, everyone agreed a name change was needed, but opinions varied on what it should be,” Teede said. “Some voices were louder, and cultural implications were overlooked.”

Teede developed an evidence-based process involving nearly 8,000 stakeholders to secure a mandate and reach consensus. “This is the most extensive and robust process ever used for renaming a condition,” she said.

Stakeholders contributed, considering gender issues not just for potential male patients but also for gender identity. “People wanted to recognize the condition mainly affects females, but without gendered language, as not all females identify as women,” Teede explained.

The group identified unacceptable words for stakeholders, such as “androgens,” “hormones,” and “imbalance,” and checked for offensive meanings in other languages. After more than a decade, a new name is finally chosen, though still under wraps pending publication, said Robert Norman, a professor involved in the process. He declined an interview, stating, “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 impending name change from STAT, SNOMED CT contacted the working group for confirmation but was also kept in the dark. Case reported being told, “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.