By Janie Shelton, PhD, MPH
Are you confused about polycystic ovary syndrome (PCOS)? You’re not alone. September is PCOS awareness month and it’s a great time to learn more about this condition. Let’s dive in.
Many women live with PCOS for a very long time and don’t know it. Occurring in an estimated 6-12 percent of females of reproductive age, it is common to only get the diagnosis after experiencing infertility or unexplained missed or absent periods. Currently, there are no common proactive screenings to help identify this issue early on.
Symptoms of PCOS include irregular or absent periods, weight gain, excessive body or facial hair, acne, and male-pattern hair loss. People with PCOS are at an elevated risk for infertility and pregnancy related complications along with other conditions including type 2 diabetes, insulin resistance, fatty liver disease, and heart disease. Polycystic ovaries — cysts within the ovaries —are sometimes spotted through a transvaginal ultrasound, but not always. Because polycystic ovaries are observed in people without PCOS, this observation alone does not lead to a diagnosis.
While the general clinical features of PCOS include all of the above, specific diagnostic criteria are hard to nail down. Generally, healthcare providers are seeking evidence of two out of the three features to make the diagnosis:
- Irregular or missed periods
- Elevated androgen hormones (including testosterone)
- Polycystic ovaries
To further confuse things, the presence of the physical manifestations, in particular excess body hair, has substantial variation by ancestral group. In particular, Asian women with PCOS often do not present with excess facial hair, potentially reducing suspicion of this condition during clinical exams.
What causes PCOS?
The exact cause of PCOS is unknown, however we know heritability may account for as much as 70% of the development of the disorder. High risk groups include those with a first-degree biological relative (for example a mother or sister) with the condition. There is some evidence ancestries such as Mexican American and Aboriginal Australians have a higher risk compared to other populations, but due to a lack of proactive screening the true prevalence is unknown around the world. Finally, a common anti-seizure medication (valproate) has also been associated with inducing PCOS.
How can I get tested?
If you suspect you may have PCOS or have a family history of PCOS, your OB/GYN can carry out an exam to detail your health history. They might carry out a transvaginal ultrasound, and order a series of blood tests, including hormone screening as described here by the Mayo Clinic. In addition to the lab results, other features of PCOS as mentioned above are needed to confirm a diagnosis.
What can I do if I have it?
A healthy lifestyle can help mitigate some of the health risks associated with PCOS. For example, maintaining a healthy weight through diet and regular exercise will help reduce the risk of insulin resistance or type 2 diabetes. Hormonal birth control options may help manage symptoms and regulate menstrual cycles. For those who know they want to have children, proactively discussing fertility and family planning options with a healthcare provider is important.
The 23andMe+ Polycystic Ovary Syndrome Report (Powered by 23andMe Research)
Our report is powered by data from people who have consented to participate in 23andMe research and uses machine learning techniques to estimate an individual’s likelihood of developing PCOS.
This estimate is made using a statistical model that includes more than 1,300 genetic markers and information on an individual’s ethnicity and birth sex. In this white paper, you can learn more about the science and methodology behind our report.
23andMe’s Polycystic Ovary Syndrome report (Powered by 23andMe Research) is available to all 23andMe+ members who report their birth sex as female. To view your report, go here.
Not a 23andMe+ member? To become a 23andMe+ member, or to find out more go here.
 Mykhalchenko K, et al (2017) “Genetics of polycystic ovary syndrome” Expert Rev Mol Diagn. 2017 Jul;17(7)