title: Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
abstract: BACKGROUND
  Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple-X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live-born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly any clinical symptoms during life.
  
  
  METHODS
  Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons.
  
  
  RESULTS
  Here, we report on two cases with bladder exstrophy and triple-X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered.
  
  
  CONCLUSIONS
  A gene dosage effect as possible underlying mechanisms will be discussed.
authors.affiliation: Department of Gynaecology & Obstetrics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium; Department of Gynaecology & Obstetrics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Paul
authors.initials: P
authors.lastname: Ramaekers
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Catharina
authors.initials: C
authors.lastname: von Lowtzow
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
authors.forename: Yves
authors.initials: Y
authors.lastname: Leroy
authors.forename: Cécile
authors.initials: C
authors.lastname: Colpaert
authors.forename: Bettina
authors.initials: B
authors.lastname: Blaumeiser
authors.forename: Katrien
authors.initials: K
authors.lastname: Janssens
authors.forename: Maxim
authors.initials: M
authors.lastname: Parizel
authors.forename: Yves
authors.initials: Y
authors.lastname: Jacquemyn
mesh_terms: D000328:Adult; D001746:Bladder Exstrophy / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D004842:Epispadias / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005333:Fetus; D018628:Gene Dosage / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D014463:Ultrasonography
keywords: BEEC; bladder exstrophy; noninvasive prenatal testing; triple X; trisomy-X