CMO II deficiency

(redirected from adrenal hyperplasia type IV)

CMO II deficiency

A rare autosomal recessive condition, due to deficiency of 11-beta-hydoxylase EC, which occurs in Arabian Jews.

Clinical findings
Growth retardation, occasionally spontaneous amelioration with age, precocious puberty in males, pseudohermaphroditism, hypertension leading to fatal vascular accidents.

Decreased aldosterone and its metabolites, increased plasma renin, increased 18-hydroxycorticosterone; hyponatremia, hyperkalemia, early onset metabolic acidosis.

Molecular genetics
Defect on chromsome 8q21.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Full browser ?