title: Premature ovarian failure and fragile X premutation: a study on 45 women.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Our results seems to confirm previous observations on the non random association between POF and FRAXA premutation.
authors.affiliation: Department of Gynecology, Perinatology and Human Reproduction, University of Florence, Florence, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Bussani
authors.forename: Laura
authors.initials: L
authors.lastname: Papi
authors.forename: Roberta
authors.initials: R
authors.lastname: Sestini
authors.forename: Fulvia
authors.initials: F
authors.lastname: Baldinotti
authors.forename: Sandra
authors.initials: S
authors.lastname: Bucciantini
authors.forename: Vincenzina
authors.initials: V
authors.lastname: Bruni
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Scarselli
mesh_terms: D000328:Adult; D017677:Age Distribution; D015139:Blotting, Southern; D016022:Case-Control Studies; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008594:Menopause, Premature / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012016:Reference Values; D018570:Risk Assessment; D012680:Sensitivity and Specificity