title: Reproductive and menstrual history of females with fragile X expansions.
abstract: FRAXA premutations have been associated with premature ovarian failure (POF) or menopause before the age of 40. We have studied women in families ascertained because of a mentally retarded full mutation relative and determined their age of menopause, serum hormone levels in premenopausal individuals and the outcome of any pregnancies. Survival analysis was used as a measure of menopause and demonstrated a significant decrease in age of menopause in premutation carriers compared with their full mutation carrier and normal relatives. Serum FSH was also raised in premutation carriers, although oestradiol, inhibin A and inhibin B were not significantly different. However, we did not find an excess of dizygous twins or pregnancy loss/trisomies, both of which are associated with aging ovaries. Thus premutation carriers as a group have an earlier menopause and raised serum FSH but do not appear to manifest other features of an aging ovary.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
authors.forename: A
authors.initials: A
authors.lastname: Murray
authors.forename: S
authors.initials: S
authors.lastname: Ennis
authors.forename: F
authors.initials: F
authors.lastname: MacSwiney
authors.forename: J
authors.initials: J
authors.lastname: Webb
authors.forename: N E
authors.initials: NE
authors.lastname: Morton
mesh_terms: D000367:Age Factors; D002869:Chromosome Aberrations; D004303:Dosage Compensation, Genetic; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D008593:Menopause; D008598:Menstruation; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D011247:Pregnancy; D011256:Pregnancy Outcome; D016601:RNA-Binding Proteins; D012098:Reproduction; D016019:Survival Analysis; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014427:Twins
chemical_list: D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human