Why would someone see a fertility specialist and then get screened for the Fragile X mutation?
- Primary ovarian insufficiency (POI) also referred to as premature ovarian failure or premature menopause, is a condition in which women stop having their periods before age 40. Blood tests will show levels of FSH over 40 in these women. A fragile X premutation is present in approximately 6% of patients with POI. Since passing on the fragile X premutation may cause inherited mental impairment, fertility specialists test women with POI for Fragile X mutations.
- Decreased ovarian reserve refers to women with high FSH levels but not levels consistent with POI. Recent studies have shown that women who carry the mutation have higher FSH levels compared with women of the same age.
- There are no set guidelines for testing all women of reproductive age. Some physicians screen all their patients. Now you know why.
More info here: http://www.fragilex.org/html/carriers.htm