pediatrics
Congenital Adrenal Hyperplasia Caused by 21 Hydroxylase Deficiency
Introduction
21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe Hyponatremia and 21-Hydroxylase deficiency causes 90% of all cases of Overview of Congenital Adrenal Hyperplasia . Incidence ranges from 1/10,000 to 1/15,000 live births. Disease severity depends on the specific * Enzymes stimulated by adrenocorticotropic hormone (ACTH). 11β = 11β-hydroxylase (P-450c11); 17α = 17α-hydroxylase (P-450c17); 17,20 = 17,20 lyase (P-450c17); 18 = aldosterone synthase (P-450aldo); 21 = 21-hydroxylase (P-450c21); DHEA = dehydroepiandrosterone; DHEAS = DHEA sulfate; 3β-HSD = 3β-hydroxysteroid dehydrogenase (3β2-HSD); 17β-HSD = 17β-hydroxysteroid dehydrogenase (17β-HSD); SCC = side-chain cleavage (P-450scc); SL = sulfotransferase (SULT1A1, SULT1E1). 