Premature ovarian failure and fragile X premutation: a study on 45 women
Cecilia Bussani1, Laura Papi, Roberta Sestini
1Department of Gynecology, Perinatology and Human Reproduction, University of Florence, Florence, Italy.
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.
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