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Table 5

RCCX Structures, CYP21A and CYP21B Genes in Patients with Classical CAH

Patients (n = 44)Normal subjects (n = 300)
RCCXnPercentnPercentP
Mono-L 11 25.0 18 6.0 <0.001 
Mono-S 33 11.0 <0.001 
LL 16 36.4 138 46.0  
LS 13 29.5 70 23.3 0.23 
LLL 4.5 21 7.0 0.368 
LSS 4.5 19 6.33  
CYP21A in mono-L 20.5 0.67 <0.001 
CYP21A-CYP21A 11 22.7 1.33 <0.001 
CYP21A-CYP21A-CYP21B 9.1 37 12.3  
CYP21A-CYP21B-CYP21B 1.67  
Patients (n = 44)Normal subjects (n = 300)
RCCXnPercentnPercentP
Mono-L 11 25.0 18 6.0 <0.001 
Mono-S 33 11.0 <0.001 
LL 16 36.4 138 46.0  
LS 13 29.5 70 23.3 0.23 
LLL 4.5 21 7.0 0.368 
LSS 4.5 19 6.33  
CYP21A in mono-L 20.5 0.67 <0.001 
CYP21A-CYP21A 11 22.7 1.33 <0.001 
CYP21A-CYP21A-CYP21B 9.1 37 12.3  
CYP21A-CYP21B-CYP21B 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%).

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