Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies

B. P. Hauffa, J. Sólyom, E. Gláz, C. H.L. Shackleton, G. Wambach, P. Vecsei, H. Stolecke, J. Homoki

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Infection-triggered, life-threatening salt-loss and hyperkalaemia developed in two male infants with wasting, inappropriately low plasma aldosterone concentrations and elevated plasma renin activity. The presumptive diagnosis of a defective terminal step in aldosterone biosynthesis was made by the presence of large amounts of 11-dehydrotetrahydrocorticosterone and its 18-hydroxylated metabolite (18-OH-THA), free 18-hydroxycorticosterone (18-OH-B) and 18-hydroxytetra-hydrocorticosterone in the urine of both patients. The diagnosis of corticosterone methyl oxidase type II (CMO II) deficiency was confirmed by an elevated urinary 18-OH-THA to tetrahydroaldosterone ratio in one boy and by an elevated plasma 18-OH-B to aldosterone ratio in the other boy. Unknown steroids responsible for the salt-loss were not identified. Sodium supplementation but not short-term high dose oral 9α-fluorcortisol (FF) normalized the hyponatraemia in one patient, in whom sodium (Na+)/potassium (K+) co-transport was decreased. Both patients eventually received long-term FF treatment to prevent impairment of longitudinal growth caused by chronic salt-loss. The diagnosis of CMO II deficiency should always be confirmed by elevated precursor-product ratios in urine or plasma, using radioimmunoassays with prior chromatographic separation. Metabolic studies as the short-term response of serum Na+ to high dose FF may not be helpful in differentiating aldosterone biosynthetic defects from endorgan resistance to mineralocorticoids.

Original languageEnglish
Pages (from-to)149-153
Number of pages5
JournalEuropean Journal of Pediatrics
Volume150
Issue number3
DOIs
Publication statusPublished - Jan 1 1991

Keywords

  • Adrenal cortex diseases
  • Adrenal gland diseases
  • Hypoaldosteronism
  • Mineralocorticoids
  • Steroid hydroxylases

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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