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. 2000 Jun 19;191(12):2183–2196. doi: 10.1084/jem.191.12.2183

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%).