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.
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Abbreviations
- ACTH:
-
adrenocorticotropic hormone
- Aldo-18-Glu:
-
aldosterone-18-glucuronide
- CMO II:
-
corticosterone methyl oxidase II
- DOC:
-
11-desoxycorticosterone
- FF:
-
9α-fluorcortisol
- HHB:
-
hexahydrocorticosterone
- HS:
-
high sodium (intake)
- LS:
-
low sodium (intake)
- 18-OH-B:
-
18-hydroxycorticosterone
- 18-OH-DOC:
-
18-hydroxy-11-deoxycorticosterone
- 17-OHP:
-
17-hydroxyprogesterone
- 18-OH-THA:
-
18-hydroxytetrahydro-11-dehydrocorticosterone
- 18-OH-THB:
-
18-hydroxytetrahydrocorticosterone
- PRA:
-
plasma renin activity
- 86Rb:
-
rubidium chloride Rb 86
- THA:
-
tetrahydro-11-dehydrocorticosterone
- THAldo:
-
tetrahydroaldosterone
- THB:
-
tetrahydrocorticosterone
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Dedicated to Professor Dr. Walter Teller, on the occasion of his 60th birthday
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Hauffa, B.P., Sólyom, J., Gláz, E. et al. Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. Eur J Pediatr 150, 149–153 (1991). https://doi.org/10.1007/BF01963554
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DOI: https://doi.org/10.1007/BF01963554