title: Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.
abstract: Expansion of the CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene within the premutation range is one of the known genetic factors associated with premature ovarian failure and earlier age at menopause. Studies have shown that approximately 16-26% of female carriers will develop premature ovarian failure, and current research is focussed on the identification of molecular factors that predict its occurrence in female carriers. In this report we present two sisters who are compound heterozygous for a premutation, and who were referred because of very early menopause, occurring at the age of 17 years in the youngest sister. Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before.
authors.affiliation: Center for Human Genetics, University Hospital Leuven, Leuven, Belgium. hilde.vanesch@med.kuleuven.be
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Luc
authors.initials: L
authors.lastname: Buekenhout
authors.forename: Valerie
authors.initials: V
authors.lastname: Race
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D000293:Adolescent; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000209:etiology / Q000235:genetics*; D035781:Siblings
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1