Premature ovarian failure (POI) in correlation to FRAXA premutation: a study on 41 women in Saram Hospital

Sarem cell Research center, Sarem medical genetics department, Sarem woman hospital, Tehran, Iran3Fragile X-associated primary ovarian insufficiency (FXPOI) is one of the fragile X-associated disorders. Women with the fragile-X premutation are at risk for primary ovarian insufficiency (POI), which includes cessation of menses prior to the age of 40 years. For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. Women with POI not only experience loss of normal fertility but are also at increased risk for osteoporosis and cardiac disease and have higher rates of mortality. Thus, women who have a fragile X premutation face the increased health risks related to POI and FXTAS as well as the risk that their children will inherit the unstable repeat as either the pre- or full mutation. About 1% of women in the general population experience POI. In comparison, approximately 20% of women who are carriers of fragile X syndrome experience POI. A total of 41 women <42 years old affected by premature ovarian insufficiency were evaluated for fragile X (FRAXA) permutation in Sarem Women Hospital during year 1396. The CGG sizing was performed using the Asuragen (Austin, TX) AmplideX FMR1 PCR Kit. The FRAXA premutation was only detected in one out of 41, indicating of only about 2.5% of tested women with POI. However, the results of our small tested group don’t consist the results of published literature. In a big cohort study the further testing of POI women must be performed and collated.

کلیدواژه ها:

FXPOI ، POI ، POF ، Premutation ، FRXA ، FMR1 ، Asuragen