PCOS and Genetics

The Links Between PCOS and Genetics

“PCOS is not a single disease. It is a complex conglomeration of many different conditions that come under the umbrella of a single name. One patient is thin, the other is obese. One patient has insulin resistance, the other patient has thyroid dysfunction.”
– Dr. Joel Batzofin

As scientists decode more of the human genetics mystery, we see more and more headlines about genetic links to hereditary disorders. One syndrome that causes infertility – polycystic ovary syndrome, or PCOS – has been the focus of intense genetics research, and scientists are closer to finding the link between PCOS and genetics.

Our New York fertility center continuously monitors ongoing PCOS research, aiming to develop innovative new treatments to help our patients who are dealing with this complex, lifelong syndrome.

Research into PCOS and Genetics

Because a woman’s chances for developing the syndrome is higher if her mother or sister has PCOS, scientists have long suspected that the source of PCOS is at least partially genetic.

For more than a decade, researchers have been investigating the possibility that certain genes may be linked to PCOS. More than 70 specific genes have been studied to determine if they might cause PCOS, but because the results have been inconclusive, more and larger studies are still needed.

Recent studies of twins support the idea that a genetic link exists. These studies have compared identical twin women, who share their entire genome, with fraternal twins, finding that genetic influences may explain more than 70% of PCOS cases.1

But a possible genetic link seems to be only part of the story. Multiple studies have also indicated a relationship between key genes interacting both with each other and with environmental factors. This may explain why some women who have a family history of PCOS never develop the syndrome. It’s possible that the environmental factors that could trigger PCOS are missing in those cases.

Help for PCOS

As scientific study of the human genome continues to advance, researchers hope to pinpoint which specific genes are involved in the development of PCOS so that targeted treatments can be developed.

One paper in particular by Yongyong Shi looked at the whole human genome and found eight new places associated with PCOS. That is good news for “new insight and direction for discovering the biological mechanisms of PCOS.” Read more here: https://www.ncbi.nlm.nih.gov/pubmed/22885925

Until there is conclusive gene mapping, we recognize that PCOS is a complex syndrome that calls for highly individualized treatment. Although PCOS is considered a lifelong condition, symptoms can often be improved with medication and dietary changes.

The link between genetics and PCOS is a special interest of Joel Batzofin, MD, who leads the dedicated PCOS clinic at our New York fertility center. Designed for PCOS patients who are struggling with infertility, as well as those seeking symptom relief, our PCOS clinic offers expert diagnosis and custom treatment programs tailored to each woman’s unique case.

To learn more about the complex causes of PCOS – and to develop a plan to treat it – contact us for a consultation at our PCOS clinic.

1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066994/