Despite affecting one in 10 women, polycystic ovary syndrome (PCOS) is a complex condition that often goes undiagnosed. For those experiencing its symptoms, which can include irregular periods, heavy bleeding, male-pattern baldness, acne, facial hair growth, and even impaired fertility, the absence of a diagnosis can be frustrating. After all, you can’t treat something that you can’t even name.
Part of the reason why PCOS can be difficult to diagnose is that there’s no single test for it. You can’t pee on a strip to see if you’re positive or negative. Instead, a person has to get blood tests, a physical exam, and sometimes a pelvic ultrasound in order to see if they meet the criteria for PCOS (which themselves are controversial in the medical world). “Although the cause of PCOS is unknown, there seems to be a strong inherited component to the syndrome. At the moment, we diagnose PCOS by taking a thorough history from the patient, doing blood tests, an ultrasound. Using these tools, we check off different sets of clinical criteria,” explains Navya Mysore, MD, a primary care physician at One Medical.
Additionally, people with PCOS can experience a variety of symptoms, and many of those symptoms (like irregular periods) overlap with ones associated with other types of conditions. Weight stigma can also keep health practitioners from properly giving PCOS patients the attention and diagnoses they deserve.
But new groundbreaking research may make diagnosing PCOS easier. For the very first time, medical researchers have identified genetic subtypes of the syndrome, which is one step closer to properly understanding this disease and being able to identify it (and even predict it).
The new findings, which were published in the journal PLOS Medicine, were made after analyzing clinical, metabolic, and hormonal data from hundreds of women with the syndrome. Using this data, researchers were able to identify two specific subtypes of PCOS that appeared to have their own unique genetic structure. People belonging to the first subtype, called “reproductive,” tended to be high in both luteinizing hormone (LH), which triggers ovulation, and sex hormone binding globulin (SHBG), which regulates testosterone. This subtype typically had lower BMI scores and lower insulin levels. The second subtype, called “metabolic,” had inverse stats—higher BMIs and insulin levels and lower amounts of LH and SHBG.
“In 2019, a gene called DENND1A was identified which likely plays a large role in PCOS. And more recently they were able to identify subgroups, one is a ‘reproductive’ group characterized by higher luteinizing hormone, a hormone that triggers ovulation and acts on the ovaries and another is a ‘metabolic’ group characterized by higher BMI, glucose, and insulin levels,” Dr. Mysore says, referring to the new study. “The identification of genetic markers such as these can only help us as there are many patients who fall into a grey area when trying to diagnose them with PCOS. By having more information, we can help them get the treatment they need. Indeed, with identified specific markers we can hope to have specifically targeted therapies as opposed to the single approach of treatment we have now.”
More research needs to be done, but in theory, doctors could look at someone’s genes to diagnose a person with PCOS rather than making them undergo multiple rounds of invasive tests. “In contrast to classifying disorders based on expert opinion, this is a very powerful objective approach to categorizing syndromes like PCOS into distinct subtypes with different causes, treatment and clinical outcomes,” senior author Andrea Dunaif, MD, chief of the Hilda and J. Lester Gabrilove Division of Endocrinology, Diabetes and Bone Disease at the Mount Sinai Health System, told Medical Xpress.
The two subtypes also may explain why PCOS manifests so differently in people—say why one person with PCOS might struggle with insulin resistance while another might experience other symptoms, but not insulin resistance. To that end, this new research may lead to more effective treatment, because it could be more targeted to the needs of a specific PCOS subgroup. “Women with PCOS may be poorly served by being grouped under a single diagnosis because PCOS subtypes may differ in responses to therapy and in long-term outcomes,” the study authors write.
Dr. Mysore is hopeful that the new findings will be used to make diagnosing PCOS easier and treatment for effective. “The biggest obstacle is helping those patients who don’t match the diagnostic criteria for an early diagnosis which leads to a delayed decision to treat them for PCOS,” she says. “By identifying two different subtypes we could diagnose patients more precisely which can help us offer more targeted treatment solutions. We could potentially get to a point where we could screen for a specific genetic marker which could identify women who are more likely to develop PCOS, and as an example women could consider egg freezing if we are worried about potential infertility as a result of PCOS.”
Registered dietitian Melissa Groves Azzaro RDN., LD., author of A Balanced Approach to PCOS is also hopeful, but says more research needs to be done. “I think the new study is a good starting point,” she says. “Clinicians have long known that there are several subtypes of PCOS, and this study helps to show why that may be, which may help lead to more targeted treatment approaches and diagnostic techniques in the future. However, there is still a lot of research to be done to gain a better understanding of PCOS as a whole. In the meantime, we should continue to treat women with PCOS as individuals—like we should with any other condition.”
With these new findings, hopefully the road to diagnosis and help for PCOS will soon be a lot shorter, and a lot less bumpy.
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