Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on Fragile X-associated disorders, including FXPOI. Short descriptions of some of this research are included below.
NICHD researchers in the Unit on Integrative Reproductive Medicine, in the Division of Intramural Research Program in Reproductive and Adult Endocrinology, are working to understand the causes of female infertility. A main focus is the natural history of reproductive health and fertility difficulties in girls and women with FMR1 premutations.
The unit is developing a registry of women with known or suspected FMR1 premutations. The registry will allow researchers to follow participants over time and study possible effects on reproductive health. The registry will also allow researchers to track development of common medical conditions—such as thyroid disease, psychiatric disorders, hypertension, and neurological disorders—to see if women with an FMR1 premutation have increased health risks.
In addition, there currently are no health or reproductive screening guidelines for women who carry a premutation, nor are there guidelines for the genetic counseling of these women. The registry, and the research it will allow for, soon will enable guidelines to be established1. For details, visit http://clinicaltrials.gov/ct2/show/NCT01187524.
Researchers supported by the Fertility and Infertility (FI) Branch are studying women with diminished ovarian reserve, including those who have an FMR1 premutation. These women have regular menstrual periods but lower levels of luteinizing hormone, which stimulates the release of eggs from the ovaries. While fewer than 45 repeats in the FMR1 gene is considered normal, preliminary data show that as many as 17% of women with diminished ovarian reserve have 35 to 44 repeats in the FMR1 gene. Researchers are examining this "high-normal" number of repeats and their effects (if any) on ovarian reserve.2
Research supported by the Intellectual and Developmental Disabilities Branch (IDDB) is exploring the neurodevelopmental and neurodegenerative effects of the FMR1 premutation in children and adults. Researchers are investigating the relationship between the premutation and cognitive and social deficits in boys, and between the premutation and age-related changes in adults age 40 and older.3
Several NICHD-supported research groups are seeking ways to better diagnose and screen for Fragile X mutations and premutations. One potential screening method would test a small drop of blood on a paper card to detect Fragile X syndrome in newborns.4
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