Study investigates the genetic cause of premature ovarian insufficiency

POI affects nearly two per cent of individuals in Canada. It is a condition where the ovaries stop producing eggs before the age of 40, and it can have a significant impact on quality of life. Not only does POI cause similar symptoms of menopause that can be debilitating, but it can also affect fertility at a stage in life where some individuals are planning or starting families. 

There are some definitive causes of POI, such as after chemotherapy or radiation, but in most cases, the cause is unknown. But now, emerging evidence suggests that there is likely a genetic link.

The donor-funded study, in partnership with Women’s College Hospital, is examining saliva samples from ten sets of patients with suspected familial POI. What makes this study unique is that exome sequencing is being performed in both patient and their family member with POI. Exome sequencing is a test that can help to understand if a medical condition has a genetic cause.

“Our hope is to gather enough evidence around a gene or genetic pattern associated with POI to launch a larger-scale study, and build the body of research around this understudied condition,” explains Dr. Wendy Wolfman, co-principal investigator of the study and director of Sinai Health’s menopause and premature ovarian failure clinics. 

Identifying genes responsible for the development of POI could support early identification in those who are at higher risk, and could one day lead to the development of groundbreaking treatments. The Premature Ovarian Insufficiency (POI) clinic at Mount Sinai Hospital is uniquely positioned to lead this research, as Canada’s only clinic specializing in POI. 

Read more about this groundbreaking study, and the life-changing impact it could have for the millions of individuals who have been diagnosed with this condition. 

This story has been updated and adapted from its original version.