Polycystic ovary syndrome (PCOS) is a hormonal disorder that affects some women, leading to irregular periods, ovarian cysts, and hormonal imbalances. It can also cause fertility problems and metabolic complications. Treatment may include lifestyle changes, medications, and hormone therapy to manage symptoms and improve fertility. The assessment of the Polygenic Risk Score for polycystic ovary syndrome is based on examining 14 gene polymorphisms.
Genetic testing for polycystic ovary syndrome is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.
Causes and non-genetic risk factors
Polycystic ovary syndrome is a disorder characterized by hyperandrogenism, ovulation dysfunction, and polycystic ovary morphology. It is usually associated with metabolic defects such as insulin resistance. It is the leading cause of female infertility, and its prevalence is estimated at 8-10% of women.
The exact cause of the syndrome is unknown, although there are several factors associated with an increased risk of occurrence:
- Insulin resistance. Insulin allows cells to use glucose, but if they become resistant to this hormone, blood levels can rise, causing insulin levels to rise to try to control it. Too much insulin can cause the body to produce more androgens.
- Excess androgens. Excessive production of "male hormones" by the ovaries can affect ovulation, as well as cause hirsutism and acne.
- Low-grade inflammation. Research has shown that people with polycystic ovary syndrome have a type of prolonged low inflammation.
Symptoms
Symptoms can begin at any time during a woman's fertile life but are more common in younger women. Common symptoms include:
- Irregular menstruation
- Infertility
- Pelvic pain
- Excessive hair growth on the face, chest, or abdomen
- Weight gain
- Acne
In addition, women with PCOS are more likely to develop diabetes, metabolic syndrome, heart disease, and hypertension.
Prevention
Currently, there is no known way to prevent the development of pathology, and there is no cure. But some treatments can help prevent symptoms, such as:
- Medical treatments, such as those based on the use of birth control pills in combination with estrogen and progestin, reduce androgen production.
- Lifestyle changes. Healthy lifestyle habits, such as a balanced diet that avoids ultra-processed foods, losing weight if necessary, or regular physical activity, can go a long way toward managing symptoms.
