Polycystic ovary syndrome (PCOS) is the most common cause of anovulation and one of the leading causes of infertility.
Surprisingly, up to 70% of affected women globally are undiagnosed. Women with PCOS have a significantly increased risk of developing cardiovascular disease, being up to 5 times more likely compared to women without PCOS. They also have an increased risk of breast and endometrial cancer.
In addition, it has been observed that approximately 70% of PCOS patients have insulin resistance and hyperinsulinism, which increases the probability of developing type 2 diabetes mellitus by 3 to 7 times. These data highlight the importance of early diagnosis and proper management of PCOS to prevent long-term complications and improve the quality of life of patients.
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It is important to mention that not all people with these genetic variants will develop health problems; however, in the presence of other risk factors, such as allogenesis, unhealthy lifestyle, the risk may increase. Therefore, the detection of these genetic variants can be useful to establish preventive strategies.
The genes evaluated are TNFα, DENND1A, LHCGR, IL6, PPARG, C9ORF3, SOD2, FTO and FSHB., which are involved in different aspects of metabolism and endocrine function that may be altered in PCOS. The identification of these variants may help to personalize treatment and prevention strategies for patients with PCOS.
It is important to keep in mind that genetic test results can provide limited answers and cannot predict with certainty whether or not a person will develop PCOS. Therefore, genetic counseling before and after testing is essential to interpret the results correctly and make informed decisions.
- TNFα
- DENND1A
- LHCGR
- IL6
- PPARG
- C9ORF3
- SOD2
- FTO
- FSHB
- MTHFR
Genomic Medicine Polycystic Ovary Syndrome (PCOS) studies can offer several benefits. These tests look for specific variants in genes that may be associated with PCOS and can help:
- Better understanding genetic predisposition to PCOS.
- Identify genetic variants that could influence the response to certain treatments.
- Making informed decisions about medical management and treatment options.
- Providing information for family counseling and reproductive planning.
Polycystic Ovary Syndrome
- Digital and in-app reporting