What causes Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)?

Women who have a premutation in the FMR1 gene are at risk of having premature ovarian insufficiency, a condition called FXPOI. Scientists believe that the altered FMR1 gene may create byproducts that are toxic to cells in the ovaries, altering their normal function, causing infertility and menopause-like symptoms.1,2,3 Alternatively, the premutation may cause the FMR1 gene to produce a protein that interferes with fertility.3

Not all women with the FMR1 premutation develop FXPOI. Researchers do not yet understand why some women develop the condition and others do not.

Research has shown that smoking decreases the reproductive lifespan of women who are premutation carriers by about 1 year.4 Women with the premutation who might want to have children should avoid smoking in order to maximize their fertility lifespan and increase the chance that they can become pregnant.

Citations

  1. Rohr, J., Allen, E. G., Charen, K., Giles, J., He, W., Dominguez, C., et al. (2008) Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: A preliminary study. Human Reproduction, 23, 1220-1225.
  2. Tassone, F., Hagerman. R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000). Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. American Journal of Human Genetics, 66, 6-15.
  3. Hagerman Lab, University of California, Davis. (n.d.) Fragile X-associated tremor/ataxia syndrome. Retrieved May 11, 2012, https://pubmed.ncbi.nlm.nih.gov/21827901/
  4. Allen, E. G., Sullivan, A. K., Marcus, M., Small, C., Dominguez, C., Epstein, M. P., et al. (2007). Examination of reproductive aging milestones among women who carry the FMR1 premutation. Human Reproduction, 22, 2142-2152.
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