Bladder exstrophy-epispadias complex and triple-X syndrome : incidental finding or causality?
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Birth defects research: part A: clinical and molecular teratology. - Bognor Regis
, p. 797-800
University of Antwerp
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. Conclusion: A gene dosage effect as possible underlying mechanisms will be discussed. (C) 2014 Wiley Periodicals, Inc.