- Classic – Females have external genitalia that do not look clearly male or female, but internal reproductive organs develop normally. Males and females have early development of secondary sexual characteristics, including an early growth spurt that can lead to short stature in adulthood. Approximately two-thirds of patients have hypertension, which typically develops within the first year of life.
- Nonclassic – Females have normal female genitalia but may develop excessive body hair growth and irregular menstruation. Males typically do not have any signs or symptoms except short stature. Hypertension is not a feature.
E25.0 – Congenital adrenogenital disorders associated with enzyme deficiency
124214007 – 11-beta-hydroxylase deficiency
Basal and cosyntropin-stimulated serum 11-deoxycortisol concentrations are elevated in 11-beta-hydroxylase deficiency and can be used to differentiate.