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Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
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.
Researchers working for and with support from across the NIH have made significant advances in understanding FXPOI.
General Information
FXPOI is the term used to describe a loss of normal function of the ovaries before the age of 40 in women who have a premutation in their FMR1 gene located on the X chromosome.
Women who have a premutation in the FMR1 gene are at risk of having premature ovarian insufficiency, a condition called FXPOI.
Fragile X syndrome and its associated conditions are caused by mutations in the FMR1 gene. The mutation affects how the gene functions in making a specific protein, called FMRP.
FXPOI causes symptoms similar to other types of ovarian insufficiency, including irregular menstrual periods, unusually short menstrual cycles, infertility, symptoms of menopause, and early menopause.
Healthcare providers may suggest genetic testing for a person who has a family history of Fragile X syndrome, infertility, or early menopause.
Although there are treatments for some of the symptoms of FXPOI, such as hot flashes, there is currently no treatment to cure or reverse infertility related to FXPOI.
Currently no proven treatment will restore normal function to a woman's ovaries if she has FXPOI. There are fertility treatment options.
There are several effective treatments for some of the other symptoms of FXPOI, such as those related to menopause—hot flashes, night sweats, vaginal dryness, irritability, and poor concentration.
Research
NICHD conducts and supports research on FXPOI and on many disorders associated with FXPOI.
Find a Study
NICHD conducts and supports a variety of clinical research projects related to FXPOI.
More Information
Find answers to other common questions about FXPOI, such as early menopause, conditions associated with FXPOI, and how the FMR1 gene changes as it is passed from parent to child.
Links to websites of groups that study or provide information about FXPOI.
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