Infertility is a primary symptom of FXPOI. In fact, some women might not know they have an FMR1 premutation until they have trouble getting pregnant.
Currently no proven treatment will restore normal function to a woman's ovaries if she has FXPOI. In addition, research has shown that some fertility treatments are ineffective for women with FXPOI. Health care providers recommend avoiding unproven and ineffective fertility treatments because they may reduce a woman's chances of getting pregnant naturally.
Some women with FXPOI can and do get pregnant naturally. Younger women who are premutation carriers are similar to noncarriers with respect to their follicle-stimulating hormone levels.1 This suggests that women with the premutation should not have significant FMR1-related fertility problems in their younger reproductive years. Because premutation-carrier women will have a shortened reproductive life span, it is important that they receive preconception counseling so that they can incorporate this information into their family planning.1
Health care providers usually recommend that a woman and her partner try to get pregnant naturally for at least 1 year before trying alternative methods. In women with FXPOI, health care providers might recommend trying for a longer period of time to promote natural pregnancy.
Other women with FXPOI might not be able to get pregnant naturally. These women and their families should discuss all the options for having a family with their health care provider.
Some women who don't get pregnant naturally might want to try assisted reproductive technologies (ART), such as in vitro fertilization, to get pregnant. ART does not guarantee pregnancy, and many forms of ART carry their own risks, some of them serious. In addition, ART may not be covered by standard insurance plans, and the methods can be costly. Women and families who are considering ART should discuss all the risks, benefits, and costs with their health care provider before making a final decision. The discussion should include the risk of passing on the premutation to their child, as well as the possibility that the premutation could expand to the full mutation, causing Fragile X syndrome in the child.
Others with FXPOI might consider adoption as a way to build their family. Adoption can be very rewarding, but the process is not without risks. Health care providers often recommend that families who are considering adoption learn about all of the risks and benefits of adoption and the adoption process before starting down the adoption path. There are legal, financial, and emotional issues to consider with adoption. Visit the Resources section for more information on adoption.
- 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.