In some women, POI is associated with a change or mutation in the gene that causes Fragile X syndrome. This condition is called Fragile X-associated POI, or FXPOI.
Fragile X syndrome is the most common inherited cause of intellectual and developmental disability. It results from a mutation (change) in the Fragile X Mental Retardation (FMR1) gene, which is located on the X chromosome.
Women who have FXPOI do not have Fragile X syndrome or symptoms of intellectual or developmental disability. They have what is called a "premutation" of the gene—a smaller change in the gene that does not affect intellectual or developmental functioning. Instead, the premutation somehow affects the ovaries and how they function.
Estimates suggest that about 1 woman in 250 has the genetic premutation linked to FXPOI.1 Among women with POI, about 1 in 33 has the FMR1 gene premutation, meaning they actually have FXPOI.2
If you have POI and are concerned about the FMR1 premutation, talk to your health care provider about genetic testing for the condition.2,3
If you already know you have the FMR1 premutation, talk with your health care provider about finding out if you have FXPOI.4
For more information about FXPOI, visit the Fragile X-Associated Primary Ovarian Insufficiency section of this website.
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