Polycystic ovarian syndrome (PCOS) is a complicated disease that is characterised by raised levels of male sex hormones in females. There are many signs and symptoms associated with PCOS, including weight gain, excessive hair growth and acne.
In terms of infertility the main issue is lack of ovulation; as the male hormones prevent egg release in females. It affects about 10% of women of childbearing age and is also associated with Type 2 diabetes, heart disease, obesity and endometrial cancer.
Scientists believe that polycystic ovaries develop in affected females when the ovaries are stimulated to produce excessive amounts of the male hormone testosterone. One or other, or a combination, of two things seems to promote this process of testosterone production:
- The release of excessive luteinizing hormone (LH) from the pituitary gland
- High levels of insulin in the blood
The syndrome got its name from the associated presence of ovarian cysts that are revealed by ultrasound examination. However, the ‘cysts’ are not true cysts, but immature follicles in a state of arrested development due to the male sex hormones.
Although the syndrome is well known and extensively documented, it is poorly understood. However, this picture is changing as a team of researchers based in New York and Chicago in the US have revealed a gene involved in male hormone production called DENND1A, which plays a major role in the development of PCOS.
The research team, in the first study of its kind to use family-based genetic analysis to investigate the causes of PCOS, sequenced the DNA of members of 62 families with a history of PCOS. They found that the rare DENND1A gene was present in at least half of participants, suggesting a genetic basis for the disease and explaining why it might be inherited.
Lead researcher Professor Andrea Dunaif of New York’s Mount Sinai Hospital said, “Our best understanding now is this strong genetic susceptibility of PCOS. It’s very, very common and that’s why we see so much of it. The hope would be that with genetic testing we may be able to identify high-risk people and start measures early.”
Professor Dunaif believes that understanding the genetic factors that contribute to PCOS could help predict who is going to get PCOS, and could lead to targeted personalised therapies in the future.
Professor Dunaif added, “When we understand the genetic pathways that are involved, we can develop drugs to target them. It may be that the gene variants that we’re discovering, which are mainly in the parts of DENND1A, regulate the amount of it that is produced in tissues and maybe some of the structure, If we understand that, then we may be able to come up with ways to alter the increase in DENND1A activity that happens in PCOS and treat the disease itself and even cure a number of patients.”
This is potentially good news for future sufferers of this common but poorly understood condition. Currently, women in the US can see as many as 4 physicians in order to get a firm diagnosis, and treatments only deal with the symptoms of PCOS, as there is no cure. Hopefully this new research will provide a vital key in unlocking the mysteries of PCOS and will provide a path to more effective treatments in the future.
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