CMO II deficiency

A rare autosomal recessive condition, due to deficiency of 11-beta-hydoxylase EC 1.14.14.4, 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.
Lab
Decreased aldosterone and its metabolites, increased plasma renin, increased 18-hydroxycorticosterone; hyponatremia, hyperkalemia, early onset metabolic acidosis.
Molecular genetics
Defect on chromsome 8q21.
Management
Dexamethasone

单词	cmo ii deficiency
释义	CMO II deficiency CMO II deficiency A rare autosomal recessive condition, due to deficiency of 11-beta-hydoxylase EC 1.14.14.4, 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. Lab Decreased aldosterone and its metabolites, increased plasma renin, increased 18-hydroxycorticosterone; hyponatremia, hyperkalemia, early onset metabolic acidosis. Molecular genetics Defect on chromsome 8q21. Management Dexamethasone
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