Table 2.
Forms of CAH
| Gene Defect | High Steroids | Low Steroids |
|---|---|---|
| CYP21A2 | P4, 17OHP, 21dF, 19C | Aldo, DOC, B, S, F |
| CYP17A1 | P4, DOC, B | Aldoa, S, F, 19C |
| CYP11B1 | P4, DOC, S, 19C | Aldoa, F |
| HSD3B2 | Delta-5>>P4, 17OHP, AD | S, F, other Delta-4b |
| POR | P4>>DOC, B, 17OHP | F, 19C |
| StAR, CYP11A1 | None | All |
Abbreviations: 21dF, 21-deoxycortisol; 19C, 19-carbon steroids; Aldo, aldosterone; DOC, 11-deoxycorticosterone; B, corticosterone; S, 11-deoxycortisol; F, cortisol; Delta-5, 3-hydroxy-5-ene steroids; Delta-4, 3-keto-4-ene steroids.
a
Aldo low due to suppressed plasma renin activity, secondary to high DOC.
b
Complex patterns; for example, T is high in females and low in males.