Journal Article

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

Craen, Margarita, François, Inge, De Groote, Katya, De Wolf, Daniel, Eyskens, Benedicte, De Schepper, Jean, Cools, Martine, Carbonez, Karlien, Devos, Daniel

2013

Overview

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. To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females. 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. EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M). Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI. 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. 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. 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.

• Publisher: Public Library of Science,Public Library of Science (PLoS)
• Subject: Abnormalities / Adolescent / Adult / Aorta / Aorta - pathology / Aortic valve / Aortic Valve - pathology / Blood Pressure / Blood pressure measurement / Cardiology / Cardiovascular diseases / Cardiovascular pathology / Children & youth / Coronary vessels / Defects / Dilation / Echocardiography / EKG / Electrocardiography / Endocrinology / Female / Females / Genetic disorders / Genotype / Girls / Growth hormones / Health screening / Heart / Heart Defects, Congenital - complications / Heart Defects, Congenital - genetics / Heart Defects, Congenital - pathology / Heart diseases / Heart valves / Humans / Hypertension / Magnetic resonance imaging / Male / Males / Medical research / Medical screening / Medicine / Mortality / Mosaicism / Myocardium - pathology / NMR / Nuclear magnetic resonance / Pathology / Patients / Pediatrics / Phenotype / Pressure measurement / Puberty / Retrospective Studies / Turner Syndrome - complications / Turner Syndrome - genetics / Turner's syndrome / Ultrasonic imaging / Young Adult