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Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): Overview

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In 1991, NICHD-supported scientists discovered the gene (FMR1) that causes Fragile X syndrome (FXS) on the X chromosome. FXS is the most common form of inherited intellectual and developmental disabilities. More recently, researchers have identified two disorders—FXPOI and Fragile X-associated tremor/ ataxia syndrome—that also are associated with changes in the FMR1 gene, but that have features and symptoms vastly different from FXS. Women with FXPOI often experience irregular menstrual periods, early infertility, and premature menopause. They are also at increased risk for heart disease and osteoporosis (thinning and weakening of the bones).

Researchers working for and with support from across the NIH have made significant advances in understanding FXPOI.

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Common Names

  • Fragile X-associated primary ovarian insufficiency (FXPOI)

Medical or Scientific Names

  • Fragile X-associated primary ovarian insufficiency
  • FXPOI (pronounced FAKS-poi)
Last Updated Date: 12/09/2013
Last Reviewed Date: 10/29/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology