Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ORPHA:90794· ICD-10 E25.0
Definition
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenemia.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal