Controversies exist over how polycystic ovary syndrome (PCOS) is diagnosed, and the name itself is potentially misleading.
Not everybody with PCOS has cysts on their ovaries, according to the CDC, and some people with them don’t necessarily experience other symptoms associated with the condition.
The latest version of the International evidence-based guidelines for the assessment and management of polycystic ovary syndrome recommends that people are diagnosed with PCOS if they have at least two of three qualifying criteria.
However, there has been some backlash to this proposal, and a recent BMJ article argued that evidence had shown these diagnostic criteria could cause harm to women who were worried about infertility even though might never be affected by that.
Many people may also report different symptoms of PCOS.
Now, a new study, published in the Journal of Clinical Endocrinology and Metabolism and carried out in the United States, suggests that the region a person with PCOS is living in could correlate with their symptoms and explain such differences.
Genetic studies have uncovered many genetic variants associated with an increased risk of developing PCOS, including genes involved in hormone production and age at menopause.
One study even found men carrying a genetic risk variant for PCOS to have an increased risk of obesity and type 2 diabetes. Other genetic research has suggested there is more than one subtype of PCOS.
Hannah Alderson, a nutritionist who specializes in PCOS and is on the medical advisory board for the charity PCOS Awareness Association told Medical News Today:
“More research is needed but it’s considered a heritable syndrome as it is prevalent within family clusters with some theorizing that it potentially could be a complex genetic trait disorder.”
“What the research tells us is that it is thought to arise from genetic and environmental factors; with inflammation, elevated cortisol, and insulin resistance at the driving seat alongside gut dysbiosis, an unstable circadian rhythm, and exposure to endocrine disruptors (e.g. plastics and products). These factors interact to cause the features of PCOS to present themselves.”
— Hannah Alderson, nutritionist
In this study, a team led by researchers from Cedars-Sinai Medical Center, Los Angeles, CA, showed that the frequency of certain PCOS symptoms differs in women that live in Alabama and in California.
By looking at the health records of 1,610 women with PCOS aged over 14, researchers collected data on the menstrual cycle history, hormone levels, excess hair (hirsutism), BMI, waist-to-hip ratio and glucose tolerance of participants. This was collected alongside data on race and region they were living in.
They found that 85% of people with PCOS from Alabama experienced hirsutism, compared to 73% in California. They were also more likely to be younger and have a higher BMI. Conversely, women in California were 59% more likely to have higher levels of free testosterone.
Race did not affect this difference in risk in most cases, but the number of Black women experiencing hirsutism did not differ significantly between locations.
While the study did not look at genomic data from the participants, the authors proposed the differences seen between regions could be explained by different ancestries of participants and different frequencies of different variants associated with PCOS. Black Americans from the South of the U.S, including Alabama, are more likely to have African ancestry, than Black people in the Northeast or West, including California.
Paper senior author Prof. Margareta D. Pisarska of Cedars-Sinai Medical Center, Los Angeles, CA, told MNT:
“There is a possibility that genetic variants can play a role. In the white population, there are little differences in European ancestry across the US but there are some differences in Black ancestry in the South versus in the West.”
In the paper, the authors suggest different frequencies of the SRD5A1 gene, a gene linked to hirsutism, could be linked to some of the differences in the two populations investigated.
The authors did not investigate why the regional differences exist, but propose they may be due to a number of factors. They cite different types of access to food due to the different concentrations of convenience stores and supermarkets in Alabama and California, as one possible environmental factor which could explain the differences.
They also suggest environmental exposure to pollutants could play a role as California is more densely populated than Alabama, and its populations are exposed to higher levels of pollutants.
Prof. Pisarska said the researchers planned to investigate the reasons behind these findings further
“After these findings, we are starting to look into the potential reasons for these findings. We are interested in focusing on diet, exercise/sedentary lifestyles, and social determinants of health,” she said.