45,X | 58 | 68.3 |
45,X/46,XX | 18 | 21.2 |
45,X/47,XXX | 1 | 1.2 |
46,Xi (Xq) | 3 | 3.5 |
46,del Xq | 3 | 3.5 |
46,del Xp | 2 | 2.3 |
Mean age at diagnosis (years) | 8.6 | 8 | 8.6 | 0.077 | |
Malformations | Heart | 22 (38) | 4 (14.8) | 26 (31) | 0.031 |
Renal | 7 (12) | 7 (25.9) | 14 (16) | 0.108 | |
Skeletal | 21 (36) | 6 (22.2) | 27 (32) | 0.197 | |
Neuropsychological manifestations | Intellectual disability | 7 (12) | 3 (11.1) | 10 (11.7) | 0.898 |
Behavioural problems | 1 (1.7) | 1 (3.7) | 2 (2.3) | 0.575 | |
Neurosensorial deafness | 2 (3.4) | 1 (3.7) | 3 (3.5) | 0.952 | |
Cutaneous manifestations | Psoriasis | 2 (3.4) | 1 (3.7) | 3 (3.5) | 0.952 |
Vitiligo | 0 | 1 (3.7) | 1 (1.2) | NA | |
Alopecia | 1 (1.7) | 0 | 1 (1.2) | NA | |
Thyroid dysfunction | 13 (22.4) | 5 (18.5) | 18 (21.2) | 0.682 | |
Cardiovascular risk factors | Obesity | 11 (18.9) | 3 (11.1) | 14 (16.5) | 0.363 |
Dyslipidaemia | 5 (8.6) | 1 (3.7) | 6 (7.1) | 0.765 | |
Insulin resistance | 1 (1.7) | 0 | 1 (1.2) | NA |
Bicuspid aortic valve | 13 (22.4) | 1 (3.7) | 14 (16.5) | 0.028 |
Coarctation of the aorta | 9 (15.5) | 1 (3.7) | 10 (11.8) | 0.115 |
Aortic stenosis | 3 (5.1) | 1 (3.7) | 4 (4.7) | 0.765 |
Atrial septal defect | 4 (6.9) | 0 | 4 (4.7) | NA |
Aortic regurgitation | 4 (6.9) | 1 (3.7) | 5 (5.8) | 0.560 |
Mitral valve prolapse | 2 (3.4) | 1 (3.7) | 3 (3.5) | 0.952 |
Ventricular septal defect | 1 (1.7) | 0 | 1 (1.2) | NA |
Patent ductus arteriosus | 0 | 1 (3.7) | 1 (1.2) | NA |
Persistent left superior vena cava | 0 | 1 (3.7) | 1 (1.2) | NA |