PREMATURE OVARIAN FAILURE AND FRAGILE X PREMUTATION: A STUDY ON 45 WOMEN

Objective: The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early menopause. Study design: 45 women with idiopathic premature ovarian failure (POF), five with a familial and 40 with a sporadic form, were screened for the presence of FRAXA premutation. A control group of 28 women >45 years, with one or more children and no signs of POF, was also studied. Results: We found three cases of fragile X premutations in women all belonging to the group with sporadic POF. Conclusion: Our results seems to confirm previous observations on the non random association between POF and FRAXA premutation.