Figure 1
Figure 2
Figure 3
Figure 4
The karyotype in TS patients
| Karyotype | Number | % |
|---|---|---|
| 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 |
Baseline characteristics of patients with TS
| Patients n (%) | Group 1 | Group 2 | Total | p | |
|---|---|---|---|---|---|
| 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 | |
Types of cardiac abnormalities in patients with TS
| Cardiac abnormalities n (%) | Group 1 | Group 2 | Total | p |
|---|---|---|---|---|
| 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 |