Premature ovarian failure and fragile X premutation: a study on 45 women

Cecilia Bussani; Laura Papi; Roberta Sestini; Fulvia Baldinotti; Sandra Bucciantini; Vincenzina Bruni; Gianfranco Scarselli

doi:10.1016/j.ejogrb.2003.06.003

Premature ovarian failure and fragile X premutation: a study on 45 women

Eur J Obstet Gynecol Reprod Biol. 2004 Feb 10;112(2):189-91. doi: 10.1016/j.ejogrb.2003.06.003.

Authors

Cecilia Bussani¹, Laura Papi, Roberta Sestini, Fulvia Baldinotti, Sandra Bucciantini, Vincenzina Bruni, Gianfranco Scarselli

Affiliation

¹ Department of Gynecology, Perinatology and Human Reproduction, University of Florence, Florence, Italy.

PMID: 14746957
DOI: 10.1016/j.ejogrb.2003.06.003

Abstract

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.

MeSH terms

Adult
Age Distribution
Blotting, Southern
Case-Control Studies
Chromosomes, Human, X / genetics*
DNA Mutational Analysis
Female
Fragile X Syndrome / diagnosis
Fragile X Syndrome / genetics*
Genetic Predisposition to Disease*
Humans
Incidence
Italy / epidemiology
Menopause, Premature / genetics
Middle Aged
Mutation*
Primary Ovarian Insufficiency / diagnosis
Primary Ovarian Insufficiency / epidemiology
Primary Ovarian Insufficiency / genetics*
Reference Values
Risk Assessment
Sensitivity and Specificity