title: The prevalence of turner syndrome in girls presenting with coarctation of the aorta.
abstract: OBJECTIVE
  To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA).
  
  
  METHODS
  A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed.
  
  
  RESULTS
  Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome.
  
  
  CONCLUSIONS
  Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA.
authors.affiliation: Department of Endocrinology, The Royal Children's Hospital, Melbourne, Australia; Center for Hormone Research, Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Sze Choong
authors.initials: SC
authors.lastname: Wong
authors.affiliation: Victorian Clinical Genetics Services Pathology, Melbourne, Australia.
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.affiliation: Department of Cardiology, The Royal Children's Hospital, Melbourne, Australia; Heart Research Group, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Cheung
authors.affiliation: Department of Endocrinology, The Royal Children's Hospital, Melbourne, Australia; Center for Hormone Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia. Electronic address: margaret.zacharin@rch.org.au.
authors.forename: Margaret
authors.initials: M
authors.lastname: Zacharin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001017:Aortic Coarctation / Q000175:diagnosis* / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D014739:Victoria / Q000453:epidemiology
keywords: BAV; Bicuspid aortic valve; CoA; Coarctation of the aorta