title: Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.
abstract: Early menopause in the fragile X carriers has been well documented in several reports. All surveys demonstrated that 13-25% of fragile X carriers experienced premature ovarian failure (POF), defined as menopause before the age of 40 years. In 1995 we started screening two groups of subjects as a part of a Fragile X Research Program: 1) women previously diagnosed as fragile X carriers from the register of our center and 2) women with POF and without a family history of fragile X or other forms of mental retardation. In this study we report the preliminary data collected from 75 fragile X families; in 30 of them, POF was present in one or several subjects, all of whom had a fragile X premutation. None of the women with a full mutation experienced POF in our series of patients. We also identified 89 families without a family history of fragile X or mental retardation, and there were 108 subjects who experienced POF, of which 6.5% had a fragile X premutation. This is 70-fold higher than the background prevalence of fragile X premutation in the Italian population and suggests an association with POF. These data confirm the results of other surveys.
authors.affiliation: Department of Paediatrics, University of Florence, Italy. uzielli@dada.it
authors.forename: M L
authors.initials: ML
authors.lastname: Uzielli
authors.forename: S
authors.initials: S
authors.lastname: Guarducci
authors.forename: E
authors.initials: E
authors.lastname: Lapi
authors.forename: A
authors.initials: A
authors.lastname: Cecconi
authors.forename: U
authors.initials: U
authors.lastname: Ricci
authors.forename: G
authors.initials: G
authors.lastname: Ricotti
authors.forename: C
authors.initials: C
authors.lastname: Biondi
authors.forename: B
authors.initials: B
authors.lastname: Scarselli
authors.forename: F
authors.initials: F
authors.lastname: Vieri
authors.forename: P
authors.initials: P
authors.lastname: Scarnato
authors.forename: F
authors.initials: F
authors.lastname: Gori
authors.forename: A
authors.initials: A
authors.lastname: Sereni
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000235:genetics*