title: The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.
abstract: BACKGROUND
  Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23.
  
  
  METHODS
  Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found.
  
  
  RESULTS
  She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.
authors.affiliation: a Department of Gynecological Endocrinology , Poznan University of Medical Sciences , Poznan , Poland.
authors.forename: Marzena
authors.initials: M
authors.lastname: Maciejewska-Jeske
authors.forename: Adam
authors.initials: A
authors.lastname: Czyzyk
authors.forename: Blazej
authors.initials: B
authors.lastname: Meczekalski
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000378:metabolism; D005260:Female; D006801:Humans; D059785:Karyotype; D009030:Mosaicism; D016649:Primary Ovarian Insufficiency / Q000209:etiology*; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D014314:Trisomy / Q000175:diagnosis* / Q000503:physiopathology; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D055815:Young Adult
keywords: 45X/47XXX mosiacism; Turner syndrome; premature ovarian failure; triple X syndrome