title: The female and the fragile X reviewed.
abstract: Nearly 15 years ago, female carriers of the fragile X mental retardation syndrome were noted to have an increased incidence of twin pregnancies. Since then, much evidence has accumulated supporting the notion of ovarian dysfunction in fragile X carriers, in the forms of increased dizygotic twinning and premature ovarian failure. However, despite a decade and a half of research regarding this association, the underlying mechanism remains a mystery. This article reviews the population-based studies that have examined this association and discusses possible reasons for the variations in results. In addition, results from more recent studies on endocrine function in fragile X carriers are discussed. These data, when considered in conjunction with our emerging understanding of the molecular biology of the fragile X gene (FMR1) and its protein product (FMRP), are beginning to elucidate possible mechanisms for the association between fragile X syndrome and ovarian dysfunction.
authors.affiliation: Howard Hughes Medical Institute and Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
authors.forename: A
authors.initials: A
authors.lastname: Kenneson
authors.forename: S T
authors.initials: ST
authors.lastname: Warren
mesh_terms: D002873:Chromosome Fragility / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008954:Models, Biological; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D016649:Primary Ovarian Insufficiency / Q000150:complications* / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D016601:RNA-Binding Proteins; D014427:Twins / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human