What is Fragile X-associated primary ovarian insufficiency (FXPOI)?
FXPOI is the term used to describe a loss of normal function of the ovaries before the age of 40 in women who have a certain type of change called a premutation (pronounced PREE- myoo-TEY-shuhn) in their FMR1 gene located on the X chromosome.
People who have what's called a full mutation in the FMR1 gene (instead of the premutation) are likely to have Fragile X syndrome, the most common inherited form of intellectual and developmental disabilities (IDDs). People with the premutation usually do not have IDDs, but they may have some learning disabilities. Or, they may not have any IDD-related features.1,2
Studies suggest that there may be a wide spectrum of ovarian dysfunction among women who are premutation carriers, with premature ovarian insufficiency being the most extreme.3 Studies have shown that between 12 percent and 28 percent of women who are fragile X premutation carriers have primary ovarian insufficiency.4 Most women with FXPOI have irregular menstrual periods and experience problems with fertility. They may have symptoms that are similar to those of menopause, such as hot flashes, night sweats, and vaginal dryness. Some women with FXPOI go through menopause as early as age 40 or even younger.5
The exact number of people with the FMR1 premutation is not known. And only a portion of women with the premutation will also have FXPOI.
For more information about the genetics of Fragile X-associated disorders, please consult the section explaining how genes cause Fragile X-associated disorders.
- National Fragile X Foundation. FMR1 gene. Retrieved May 30, 2012, from http://www.fragilex.org/fragile-x-associated-disorders/genetics-and-inheritance/fmr1-gene/
- National Fragile X Foundation. Fragile X syndrome. Retrieved May 30, 2012, from http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/
- Sullivan, A. K., Marcus, M., Epstein, M.P., Allen, E. G., Anido, A. E., Paquin, J. J, et al. (2005). Association of FMR1 repeat size with ovarian dysfunction. Human Reproduction, 20, 402-412.
- Partington, M. W., York Moore. D., & Turner, G. M. (1996). Confirmation of early menopause in fragile X carriers. American Journal of Medical Genetics, 64, 370372.
- National Fragile X Foundation. (n.d.). FXPOI. Retrieved May 30, 2012, from http://www.fragilex.org/fragile-x-associated-disorders/FXPOI/