Female carriers may suffer from Fragile X Associated Primary Ovarian Insufficiency (FXPOI), a problem which can lead to infertility and early menopause in some female premutation carriers.
Primary Ovarian Insufficiency (POI) is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility.
POI is not menopause, even though women with POI may develop symptoms similar to those of menopause, such as hot flushes and vaginal dryness. POI differs from menopause in some important ways:
- Women with POI can still get pregnant in some cases because their ovaries may function irregularly to release viable eggs where as women who have completed menopause can not fall pregnant because their ovaries no longer release eggs.
- Women with POI can experience a return of/or irregular periods, however, women who have completed menopause will not have menstrual periods again.
Studies show that women who have POI of unknown cause have a 1/50 chance of being a carrier of Fragile X therefore the testing of women experiencing either POI or early menopause like symptoms is recommended.
Studies show that approximately 1 in 4 women carriers experience FXPOI and another 1 in 4 experience early menopause. It is thought that all women with premutation status have some decrease in ovarian function. However many women with the Fragile X premutation are able to conceive and family planning options are recommended.