Polycystic Ovary Syndrome and Fertility
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Healthcare systems around the world should be encouraged to make polycystic ovary syndrome a priority in women’s health checks
Polycystic ovary syndrome (PCOS) affects 1 in 10 women worldwide and it is one of the most common reasons behind impaired fertility in women. PCOS impacts the female reproductive system by causing the ovaries to produce an abnormal amount of androgen levels, a group of hormones responsible for the growth and reproduction of women and men.
Only a small amount of androgens is produced in women, which is why androgens are considered male hormones. PCOS is named after the accumulation of multiple small cysts in the ovaries. The hormonal imbalance causes ovulation failure, which prevents the small egg follicles from growing, resulting in cyst formation.
The first known case of PCOS was observed in 1721, but formal diagnostic criteria were not set until the early 1990s. In 2010, the World Health Organization estimated that PCOS affects 116 million women worldwide. Despite its high prevalence, the exact causes of the syndrome are still not fully understood. PCOS is a multifactorial disease, as it can be caused by genetic, hormonal, and environmental factors such as hereditary genetic changes, insulin resistance, increased levels of inflammation, stress, poor diet, nutrition, and environmental toxins.
The first symptoms of PCOS start appearing around puberty, at the time of the first menstrual period. The most common symptoms include irregular periods, i.e., inconsistent, absent, heavy, or painful periods, excess body hair, acne, and headaches. The majority of the symptoms are a result of hormone imbalance and higher levels of androgens. More than half of the women with PCOS experience no symptoms, apart from difficulty in conceiving. PCOS related weight gain is associated with an increased risk of type 2 diabetes, high cholesterol, impaired glucose tolerance, cardiovascular diseases, and hypertension. PCOS also increases the risk of endometrial carcinoma.
PCOS is frequently mistaken for polycystic ovaries (PCO), which is a very common condition occurring in almost one-third of women of reproductive age. Even though these are related conditions with shared symptoms, such as irregular periods, acne, and weight gain, PCO is not considered a disorder, while PCOS is a metabolic disorder associated with hormonal imbalance. PCOS and PCO also vary in associated risks, incidence, and clinical management, with PCOS being more severe than PCO. In addition, PCO can be diagnosed with an ultrasound, whereas for PCOS diagnosis, additional blood tests are required to check hormone levels.
More and more studies are beginning to research the genes associated with PCOS. These genes can have a direct or indirect effect on women’s fertility, as they are associated with the ovaries and are involved in the production of reproductive hormones. Genetic testing can be performed to identify any changes in the genes known to be associated with PCOS, and consequently help with improving the classification of the syndrome and its phenotypes, as well as allowing for early interventions to reduce the PCOS-associated risks.
Although there is no cure for PCOS, the symptoms are manageable and treatable. Treatment will depend on various factors, such as the woman’s age and her exact symptoms, and mainly on whether the woman plans to become pregnant. Infertility treatment starts with lifestyle modifications, such as implementing a healthier diet and becoming more physically active. Even a minor weight loss can help improve the body’s ability to regulate insulin and subsequently improve ovulation. It can also help increase the efficiency of any other medication, such as ovulation induction drugs, to help the ovaries release eggs. For women not planning a pregnancy in the immediate future, birth control pills can decrease androgen levels and treat various symptoms, such as irregular menstruation, excessive hair growth and acne. Diabetes medication can be used to treat high insulin resistance.
Increasing awareness about PCOS can promote the need for timely diagnosis and improve treatment and prognosis for affected women. Governments and healthcare systems around the world should be encouraged to make PCOS a priority in women’s health checks, understand the struggles and improve the quality of life for women and girls with PCOS.
Rodinia infertility test female panel, offered by NIPD Genetics, can detect mutations that cause polycystic ovary syndrome along with many other conditions. To learn more, please visit www.nipd.com. Possible next steps and clinical management should always be discussed with your doctor.
Dr. Skevi Kyriakou
Assistant Senior Scientist
Research & Development Department NIPD Genetics
The content of this article is intended only for informational purposes and should not be perceived as medical advice.
The scientific references used to compose this article can be found at www.nipd.com
