CAH is a group of autosomal recessive disorders affecting cortisol biosynthesis in the adrenal cortex * Most common: 21-hydroxylase deficiency (→ ~90% of cases) * Gene: CYP21A2 HormoneLevelCortisol↓ACTH ↑ due to lack of negative feedbackAldosterone↓Salt wastingAndrogens↑Virilization Clinical Presentation Presents in neonatal period * Girls: * Ambiguous genitalia (clitoromegaly, labioscrotal fusion) * Boys: * Normal genitalia