Table 1.
The main characteristics of the cohort (n = 100).
| Slovakia (Western region) | Slovenia | p-value | |
|---|---|---|---|
| Probands in total (n) | 40 (25 girls, 15 boys) | 60 (32 girls, 28 boys) | 0.414 |
| Mean current age (years) | 11.5 | 19.5 | 0.000001 |
| SW-CAH in total (n) | 29 (18 girls, 11 boys) | 34 (14 girls, 20 boys) | 0.134 |
| SW-CAH - median age at dg. | 6 days (3 to 30 days) | 28.5 days (0 to 120 days) | 0.011 |
| SW-CAH diagnosed by screening (n) | 24 (14 girls, 10 boys) | NA | NA |
| SW-CAH screened - median age at dg. | 5 days | NA | NA |
| SW-CAH average 17-OHP at dg. + SD (ng/ml) | 563.9 ± 1001.2(dry blood) | 671.7± 1041.5 (venous blood) | 0.356 |
| SV-CAH in total | 5 (1 girl, 4 boys) | 11 (6 girls, 5 boys) | 0.58 |
| SV-CAH - median age at dg. | 0.74 years (4 days -10.5 years) | 1.65 years (2.79 – 7 years) | 0.498 |
| SV-CAH diagnosed by screening | 2 (1 girl, 1 boy) | NA | NA |
| SV-CAH screened - median age at dg. | 6.5 days | NA | NA |
| SV-CAH average 17-OHP at dg. + SD (ng/ml) | 51.8 ± 14 (dry blood) | 1388.8 ± 1959.7 (venous blood) | 0.057 |
| NC-CAH | 6 (6 girls) | 15 (12 girls, 3 boys) | 0.318 |
| NC-CAH - median age at dg. | 7.19 years | 7.2 years | 0.445 |
| NC-CAH average 17-OHP at dg. + SD (ng/ml) | 38 ± 22.7(venous blood) | 116 ± 117.8 (venous blood) | 0.012 |
| TARTS in male patients (%)* | 33.3% (2 out of 6) | 27.8% (5 out of 18) | 1 |
| SW-CAH in patients with TARTs* |
2 (100%) | 5 (100%) | 1 |
| Median age at dg. of CAH in patients with TARTs* |
16.5 days | 15 days | 0,44 |
| Median age at dg. of TARTs* | 13 years | ||
| Avare 17-OHP at dg. of TARTs* | 217.88 nmol/l | ||
* information on scrotal ultrasound available from 24 male probands.
CAH, congenital adrenal hyperplasia; SW-CAH, salt-wasting form; SV-CAH, simple virilizing form; NC-CAH, non-classic form; dg, diagnosis; 17-OHP, 17-hydroxyprogesterone; SD, standard deviation; TART, testicular adrenal rest tumour; NA, not applicable.