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

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—Fragile X–associated primary ovarian insufficiency (FXPOI) and Fragile X—associated tremor/ataxia syndrome (FXTAS)—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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Fast Facts

Common Names

• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

Medical or Scientific Names

• Fragile X-Associated Primary Ovarian Insufficiency
• FXPOI (pronounced FAKS-poi)

Causes

FXPOI is caused by a particular type of change (called a premutation) in the FMR1 gene on the X chromosome.

Number of People Affected: Although the exact number is not known, about 1 in 259 women has the genetic changes that make them susceptible to FXPOI.¹ About 20% to 25% of women with the altered FMR1 gene will develop FXPOI.²

Common Symptoms

Women with FXPOI may have irregular periods, fertility problems or infertility, and symptoms similar to menopause. Some may undergo menopause before age 40, sometimes at very young ages.

Common Treatments

There are currently some treatments for the symptoms of FXPOI, and assisted reproductive technologies may be helpful for some cases of infertility. Some women who are FMR1 premutation carriers are able to become pregnant. However, all carriers are at risk of having children with Fragile X syndrome (FXS) and so should meet with a genetic counselor to discuss reproductive issues.

1. Hersh, J. H., Saul R. A., & Committee on Genetics. (2011). Health supervision for children with Fragile X syndrome. Pediatrics 127, 994-1006. [top]
2. National Fragile X Foundation. (2011). Prevalence of FXTAS. Retrieved June 2, 2012, from http://www.fxtas.org/prevalence.htm [top]