CMO II deficiency

(redirected from 11-Beta hydroxylase deficiency)

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.

References in periodicals archive ?
As aldosterone level was elevated, 21-hydroxylase deficiency was excluded and provisional diagnosis of 11-beta hydroxylase deficiency with cholestatic jaundice was made.
1 Five kinds of various enzyme deficiencies are recognized for CAH, we present one of the rarer forms; 11-beta hydroxylase deficiency.