Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

CONTEXT 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. DESIGN 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. PATIENTS EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M). INTERVENTION Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI. MAIN OUTCOME MEASUREMENT 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. CONCLUSION 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.