Table 5.
RCCX Structures, CYP21A and CYP21B Genes in Patients with Classical CAH
| Patients (n = 44) | Normal subjects (n = 300) | ||||
|---|---|---|---|---|---|
| RCCX | n | Percent | n | Percent | P |
| Mono-L | 11 | 25.0 | 18 | 6.0 | <0.001 |
| Mono-S | 0 | 0 | 33 | 11.0 | <0.001 |
| LL | 16 | 36.4 | 138 | 46.0 | |
| LS | 13 | 29.5 | 70 | 23.3 | 0.23 |
| LLL | 2 | 4.5 | 21 | 7.0 | 0.368 |
| LSS | 2 | 4.5 | 19 | 6.33 | |
| CYP21A in mono-L | 9 | 20.5 | 2 | 0.67 | <0.001 |
| CYP21A-CYP21A | 11 | 22.7 | 4 | 1.33 | <0.001 |
| CYP21A-CYP21A-CYP21B | 4 | 9.1 | 37 | 12.3 | |
| CYP21A-CYP21B-CYP21B | 0 | 0 | 5 | 1.67 | |
Number of CAH patients studied: 22 (number of chromosome 6: 44); total number of C4 genes detectable: 81; frequency of long C4 genes: 79.0% (normal 76.2%); frequency of short C4 genes: 21% (normal 23.7%).