Premature ovarian failure and fragile X premutation: a study on 45 women.
作者信息
Bussani Cecilia, Papi Laura, Sestini Roberta, Baldinotti Fulvia, Bucciantini Sandra, Bruni Vincenzina, Scarselli Gianfranco
机构信息
Department of Gynecology, Perinatology and Human Reproduction, University of Florence, Florence, Italy.
出版信息
Eur J Obstet Gynecol Reprod Biol. 2004 Feb 10;112(2):189-91. doi: 10.1016/j.ejogrb.2003.06.003.
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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