Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency

Phillip Lee, B. D. Patterson, R. L. Hintz, R. G. Rosenfeld

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Corticosterone methyl oxidase deficiency type II (CMO type II deficiency) is an autosomal recessive disorder characterized by a defect in the terminal step of aldosterone biosynthesis. Previous reports emphasized the diagnostic utility of elevated urinary ratios of 18-hydroxytetrahydro-compound A to tetrahydro-aldostereone, which are primary metabolites of 18-hydroxycorticosterone (18-OHB) and aldosterone, respectively. Limited data suggest that plasma ratios of 18-OHB to aldosterone are also abnormal in affected individuals. We report serum steroid profiles in two siblings with CMO type II deficiency. Serum levels of aldosterone precursors were elevated in both patients before treatment. In particular, the serum ratios of 18-OHB to aldosterone were greatly elevated and declined to normal levels during mineralocorticoid replacement. The possibility of heterozygote detection using this ratio is suggested. We also confirm previous reports of a detrimental effect on linear growth rate after cessation of mineralocorticoid therapy despite maintenance of normal serum electrolytes. This effect is associated with biochemical evidence of chronic salt depletion. Based on our observations, we recommend that serum 18-OHB to aldosterone ratios be routinely measured for the diagnosis and management of patients with CMO type II deficiency.

Original languageEnglish (US)
Pages (from-to)225-229
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume62
Issue number1
StatePublished - 1986
Externally publishedYes

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Aldosterone
Serum
Mineralocorticoids
18-Hydroxycorticosterone
Heterozygote Detection
Patient treatment
Biosynthesis
Corticosterone
Metabolites
Electrolytes
corticosterone methyl oxidase II
Siblings
Oxidoreductases
Salts
Steroids
Maintenance
Plasmas
Defects
Therapeutics
Growth

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency. / Lee, Phillip; Patterson, B. D.; Hintz, R. L.; Rosenfeld, R. G.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 62, No. 1, 1986, p. 225-229.

Research output: Contribution to journalArticle

Lee, Phillip ; Patterson, B. D. ; Hintz, R. L. ; Rosenfeld, R. G. / Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency. In: Journal of Clinical Endocrinology and Metabolism. 1986 ; Vol. 62, No. 1. pp. 225-229.
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