title: Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
abstract: BACKGROUND
  The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY.
  
  
  OBJECTIVE
  To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females.
  
  
  METHODS
  Patients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development.
  
  
  METHODS
  EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M).
  
  
  METHODS
  Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI.
  
  
  METHODS
  Cardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files.
  
  
  RESULTS
  A structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M.
  
  
  CONCLUSIONS
  Males with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome.
authors: Division of Pediatric Cardiology, Department of Pediatrics, Ghent University Hospital and Ghent University, Ghent, Belgium. katya.degroote@uzgent.be
authors: Katya
authors: K
authors: De Groote
authors: Martine
authors: M
authors: Cools
authors: Jean
authors: J
authors: De Schepper
authors: Margarita
authors: M
authors: Craen
authors: Inge
authors: I
authors: François
authors: Daniel
authors: D
authors: Devos
authors: Karlien
authors: K
authors: Carbonez
authors: Benedicte
authors: B
authors: Eyskens
authors: Daniel
authors: D
authors: De Wolf
mesh_terms: D000293:Adolescent; D000328:Adult; D001011:Aorta / Q000473:pathology; D001021:Aortic Valve / Q000473:pathology; D001794:Blood Pressure; D005260:Female; D005838:Genotype; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics; D055815:Young Adult