The number of individuals in the U.S. who have or are at risk for a premutation-associated condition ranges from 1 in 151 females, or about 1 million women, to 1 in 468 males, or about 350,000 men.
The Fragile X premutation is the most frequent single gene cause of primary ovarian insufficiency. FXPOI is a spectrum condition and is diagnosed when indicators of ovarian function are reduced and show an impaired response, although women may still be having menstrual cycles.
About 20% of women who carry a Fragile X premutation over their reproductive life span develop FXPOI, compared with only 1% in the general population.
Women with a premutation may not experience symptoms of FXPOI; thus, identifying risk factors to predict onset of FXPOI is imperative for women’s health.
Women who carry a Fragile X premutation should inform their primary care physician or gynecologist of their increased risk for FXPOI in order to facilitate recognition of early symptoms and better management.
All women presenting with POI should be tested for the Fragile X premutation, regardless of their family history