CMO II deficiency
CMO II deficiencyA rare autosomal recessive condition, due to deficiency of 11-beta-hydoxylase EC 220.127.116.11, which occurs in Arabian Jews.
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.
Defect on chromsome 8q21.