New study discovers gene responsible for PCOS

A male hormone gene has been confirmed as playing a major role in the development of polycystic ovary syndrome (PCOS), a first-of-its-kind study has discovered

Scientists have revealed the discovery will enable a more personalised medical approach to treating PCOS, including better disease prediction.

PCOS is among the most common conditions in reproductive-age women and is the leading cause of infertility and type 2 diabetes. The cause of PCOS is unknown, but there is a strong inherited susceptibility to the disorder.

“PCOS is a major cause of female infertility and is associated with other serious health problems,” said one of the senior authors of the study, Andrea Dunaif, MD, Chief of the Hilda and J Lester Gabrilove Division of Endocrinology, Diabetes and Bone Disease at the Icahn School of Medicine at Mount Sinai. “Our findings provide important new insights into the mechanisms by which genetic variation causes PCOS. The rare genetic variants we found may be much better for predicting the condition than the common variants. Further, targeting pathways regulated by this gene could lead to new therapies for the condition.”

Dr Dunaif and her colleagues found that reproductive and metabolic hormone levels were associated with rare genetic variants in gene DENND1A in about half of the families. This gene is important in testosterone production in the ovary as increased ovarian testosterone production is a major hormonal abnormality in PCOS. The findings indicate that this type of genetic variation contributes to the distinctive hormonal profile of the disorder.

The research was begun by Dr Dunaif and colleagues at Northwestern University Feinberg School of Medicine and completed at the Icahn School of Medicine Mount Sinai.

Hope for future fertility patients

Geoffrey Hayes, PhD, Associate Professor in the Department of Medicine – Endocrinology, Metabolism and Molecular Medicine at Northwestern University Feinberg School of Medicine, and co-senior author of this study said the outcomes will help to teach them more about the condition.

He said: “We hope our results will help uncover some of the involved hereditary mechanisms and ultimately teach us more about the molecular drivers of the disorder.  This approach should be applicable to other common complex diseases affecting humans including diabetes and heart disease.”

The discovery will hopefully lead to new and varied treatments, good news for fertility patients.

Do you have PCOS? Was it detrimental to your journey to parenthood? Email us at

No Comments Yet

Leave a Reply

Your email address will not be published.

Translate »