NICHD Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) Research Information

NICHD conducts and supports research on many aspects of FXPOI as well as other Fragile X-associated conditions. Researchers are studying why some women with an FMR1 premutation have FXPOI and others do not, for example. In addition, the Institute is developing a registry of women with FMR1 premutations to study their health over time. Other research is seeking easier, less expensive, and more accurate screening and diagnostic tests that can provide detailed information on a person’s FMR1 status. Another area of NICHD-supported research seeks to substantiate the association between the FMR1 triplet repeat count and infertility phenotype, which can range from diminished ovarian reserve to premature ovarian failure.


  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. Retrieved September 12, 2012, from (PDF 440 KB).
  2. Pastore, L. M. (n.d.). FMR1 CGG repeats in primary ovarian insufficiency women vs. 2 comparison groups. Retrieved September 11, 2012, from
  3. Hagerman, R .J. (n.d.). Genotype-phenotype relationships in Fragile X families. Retrieved September 11, 2012, from
  4. Latham, G. J. (n.d.). Enabling use of blood spot cards for accurate high-throughput fragile X screening. Retrieved September 11, 2012, from


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