Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
<h4>Context</h4>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 cardiovas...
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| Autores principales: | , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2013
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/6341a6836dc640cf8e5e4d7979e59ecd |
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| Sumario: | <h4>Context</h4>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.<h4>Objective</h4>To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females.<h4>Design</h4>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.<h4>Patients</h4>EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M).<h4>Intervention</h4>Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI.<h4>Main outcome measurement</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>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. |
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