What is the connection between POI & Fragile X syndrome?

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.

  1. Trans-NIH Fragile X Research Coordinating Group and Scientific Working Groups. (2008). National Institutes of Health Research Plan on Fragile X Syndrome and Associated Disorders. Rockville, MD: NIH, U.S. Department of Health and Human Services. Retrieved January 4, 2012, from http://nichd.nih.gov/publications/pubs/Documents/NIH_Research_Plan_on_Fragile_X_and_Assoc_Disorders-06-2009.pdf (PDF - 440 KB)
  2. Mayo Clinic. (2010). Premature ovarian failure: Coping and support. Retrieved March 13, 2012, from https://www.mayoclinic.org/diseases-conditions/kidney-stones/diagnosis-treatment/drc-20355759 External Web Site Policy
  3. American College of Obstetricians and Gynecologists. (2010). Committee opinion no. 469: Carrier screening for fragile X syndrome. Obstetrics and Gynecology, 116, 1008–1010.
  4. American Society for Reproductive Medicine (ASRM). (2008). Assisted Reproductive Technologies: A Guide for Patients. Birmingham, AL.
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