Fragile X Disorders

Fragile X Premature Ovarian Insufficiency (FXPOI)  

Background and Prevalence

Female carriers of the fragile X premutation are at risk for developing premature ovarian insufficiency, leading to decreased fertility and early menopause. Approximately 20-25% of female premutation carriers can experience FXPOI.   

Cause

Females who are premutation carriers of the FMR1 (Fragile X) gene (CGG repeats 55-200) are at risk of developing FXPOI, with the greatest risk associated with CGG repeat numbers towards premutation carriers with CGG repeat numbers closer towards 55 or 200. While ovarian functioning is not impaired, the ovaries of individuals with FXPOI prematurely slow down in overall function, including their ability to maintain and release eggs, resulting in reduced fertility and early menopause.

Symptoms

Common symptoms of FXPOI include absent or irregular cycles, fertility problems, hot flashes, and in more severe cases, complete cessation of menstrual periods before the age of 40. However, unlike typical menopause, women who have FXPOI can still get pregnant, as the ovaries may still occasionally ovulate and menstrual cycles may be erratic and periodically return. 

Treatment

Many women who are premutation carriers can get pregnant, even when experiencing symptoms of FXPOI. While there is not cure for FXPOI, women who are experiencing decreased fertility or early menopause symptoms should seek consultation with their doctor or reproductive specialist to discuss various assisted reproductive options.