Fragile X-Associated Primary Ovarian Insufficiency

Fragile X-associated primary ovarian insufficiency (FXPOI) is one of the Fragile X premutation-associated conditions, though not all women with the Fragile X premutation will experience FXPOI. FXPOI, is a condition in which the ovaries are not functioning at full capacity in an individual with the FMR1 premutation. All women can develop primary ovarian insufficiency (POI), but about 20% of women who carry a Fragile X premutation develop POI compared with only 1% in the general population.  We continue to learn more about FXPOI and identify risk factors to predict the onset of FXPOI, which is imperative for women’s health.  

Join panelists Heather Hipp, MD, Emily Allen, PhD, and Cecelia Bouska, LCGC, who will discuss features and symptoms of FXPOI, risk prediction, and treatment strategies. The webinar will be a one-hour Q&A moderated by Robby Miller.

We recommend reviewing this resource prior to attending:

Come prepared with your questions. You may also submit your questions in advance when completing your registration. We will do our best to answer as many questions as possible.

If you have additional questions, feel free to email us at contact@fragilex.org. 

The webinar will be recorded and available to all registrants.

Learn More About the Panelists

Heather Hipp, MD

Heather Hipp, MD, is an Assistant Professor at the Emory University School of Medicine and is board certified in Obstetrics and Gynecology and Reproductive Endocrinology and Infertility. She helped author the recent Fragile X Clinical and Research Consortium’s guidelines for FXPOI. Dr. Hipp works at the Emory Reproductive Center, focusing on infertility. She maintains a special clinical interest in women with POI, working to care for their overall health and reproductive needs.

Emily Allen, PhD

Dr. Emily Allen has worked on studies of fragile X-associated disorders at Emory University with Dr. Stephanie Sherman since the early 2000s. Her primary research focus has been on disorders and characteristics associated with premutation carriers, such as fragile-X associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS). Her research interests focus on two major areas: understanding the phenotypic consequence of carrying the premutation form of the FMR1 gene and understanding the risk factors leading to nondisjunction in Down syndrome cases.

Cecilia Bouska, LCGC 

Cecilia is a licensed genetic counselor at Children's National Hospital in Washington D.C. Most recently, Cecilia authored the updated NFXF  Fragile X-associated Primary Ovarian Insufficiency Treatment Recommendation alongside Drs. Emily Allen and Heather Hipp.