Article
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).
Journal of assisted reproduction and genetics - 1 Jan 2023
Poteet Bonnie, Ali Nadia, Bellcross Cecelia, Sherman Stephanie L, Espinel Whitney, Hipp Heather, Allen Emily G
Abstract excerpt
PURPOSE: The fragile X premutation occurs when there are 55-200 CGG repeats in the 5' UTR of the FMR1 gene. An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in the literature, limiting insight on experiences surrounding the diagnosis. This study...
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