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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

ORPHA:90795· ICD-10 E25.0

Definition

A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal