Table 1.
Age at diagnosis for seven congenital endocrine diseases, by age category
| Number of patients (Female%) | Missing data N (%) |
Median age at diagnosis (years) | Patients diagnosed < 5 years old |
Patients diagnosed [5–11) years old |
Patients diagnosed [11–18) years old |
Patients diagnosed ≥18 years old |
|
|---|---|---|---|---|---|---|---|
| Idiopathic isolated growth hormone deficiency |
1593 (38.5%) |
97 (6.1%) |
8.42 (4.42-11.33) |
418 (26.2%) |
637 (40%) |
435 (27.3%) |
6 (0.4%) |
| Ectopic posterior pituitary syndrome |
364 (38.7%) |
0 |
3.42 (0.50-7.50) |
230 (63.2%) |
90 (24.7%) |
41 (11.3%) |
3 (0.8%) |
| Isolated congenital hypogonadotropic hypogonadism |
761 (39.3%) |
48 (6.3%) |
17.42 (14.00-25.00) |
105 (13.8%) |
21 (2.8%) |
237 (31.1%) |
350 (46%) |
| Turner syndrome* |
1478 (100%) |
38 (2.6%) |
9.00** (0.67-13.69) |
478 (32.3%) |
397 (26.9%) |
393 (26.6%) |
172 (11.6%) |
| McCune-Albright Syndrome |
38 (94.7%) |
1 (2.6%) |
4.67 (2.50-6.58) |
23 (60.5%) |
12 (31.6%) |
2 (5.3%) |
ND |
| Complete androgen insensitivity syndrome |
77 (100%) |
7 (9.1%) |
9.25 (0.21-16.00) |
33 (42.8%) |
3 (3.9%) |
17 (22.1%) |
17 (22.1%) |
| Gonadal dysgenesis 46,XY/45,X |
68 (27.9%) |
3 (4.4%) |
0.00 (0.00-9.25) |
45 (66.2%) |
6 (8.8%) |
8 (11.8%) |
6 (8.8%) |
Values are expressed as median ± quartiles, or number (%)
*Antenatal diagnosis in Turner syndrome: n = 160 (10.8%)
**Median age of patients with Turner syndrome diagnosed postnatally: 10.83 (7.00–15.00) years