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:	Katya De Groote, Martine Cools, Jean De Schepper, Margarita Craen, Inge François, Daniel Devos, Karlien Carbonez, Benedicte Eyskens, Daniel De Wolf
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/6341a6836dc640cf8e5e4d7979e59ecd
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spelling	oai:doaj.org-article:6341a6836dc640cf8e5e4d7979e59ecd2021-11-18T07:57:32ZCardiovascular pathology in males and females with 45,X/46,XY mosaicism.1932-620310.1371/journal.pone.0054977https://doaj.org/article/6341a6836dc640cf8e5e4d7979e59ecd2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23457457/?tool=EBIhttps://doaj.org/toc/1932-6203<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.Katya De GrooteMartine CoolsJean De SchepperMargarita CraenInge FrançoisDaniel DevosKarlien CarbonezBenedicte EyskensDaniel De WolfPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 2, p e54977 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Katya De Groote Martine Cools Jean De Schepper Margarita Craen Inge François Daniel Devos Karlien Carbonez Benedicte Eyskens Daniel De Wolf Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
description	<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.
format	article
author	Katya De Groote Martine Cools Jean De Schepper Margarita Craen Inge François Daniel Devos Karlien Carbonez Benedicte Eyskens Daniel De Wolf
author_facet	Katya De Groote Martine Cools Jean De Schepper Margarita Craen Inge François Daniel Devos Karlien Carbonez Benedicte Eyskens Daniel De Wolf
author_sort	Katya De Groote
title	Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
title_short	Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
title_full	Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
title_fullStr	Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
title_full_unstemmed	Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
title_sort	cardiovascular pathology in males and females with 45,x/46,xy mosaicism.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/6341a6836dc640cf8e5e4d7979e59ecd
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Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.

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