Table 4.
Concordance of 0, A, B, C genotypes with assigned phenotypes compared to other studies.
Genotype/predicted phenotype | Our cohort (n=98) | USA (3) (n=1507) | Germany (2) (n=538) | Argentina (4) (n=454) | Netherlands (5) (n=198) | Poland (8) (n=44) |
---|---|---|---|---|---|---|
0/SW-CAH % | 94.74 | ≤100 | 97 | 100 | 97 | 100 |
A/SW-CAH% | 97.3 | 79 | 91 | 84 | 96 | 90.5 |
B/SV-CAH % | 50 | 76 | 46 | 87 | 53 | 66.70% |
C/NC-CAH % | 70.83 | >90 | 58 | 100 | 100 | NA |
CAH, congenital adrenal hyperplasia; SW-CAH, salt-wasting form; SV-CAH, simple virilizing form; NC-CAH, non-classic form.