Abstract
Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127–132 mEq/l) and hyperkalaemia (serum K+ 5.3–5.9 mEq/l). The diagnosis was suggested by an elevated plasma renin activity (PRA): serum aldosterone ratio, and subsequently confirmed by an elevated serum 18-hydroxycorticosterone: aldosterone ratio. Treatment with 9α-fluorohydroxycortisone normalized growth parameters and PRA levels. CMO II deficiency should be considered in infants with recurrent dehydration and failure to thrive, even when serum sodium and potassium levels are not strikingly abnormal.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- B:
-
corticosterone
- CMO:
-
cortisone methyl oxidase
- DOC:
-
deoxycorticosterone
- 18-OH-B:
-
18-hydroxycorticosterone
References
Chua SC, Szabo P, Vitek A, Grzeschik KH, John M, White PC (1987) Cloning of cDNA encoding steroid 11β-hydroxylase (P-450c11). Proc Natl Acad Sci USA 84:7193–7197
Globerman H, Rosler A, Theodor R, New MI, White PC (1988) An inherited defect in aldosterone biosynthesis caused by mutation in or near the gene for 11 hydroxylase. N Engl J Med 319:1193–1197
Healy JK, Elliot AJ (1977) The effect of a natriuretic dose of angiotensin or a rabbit kidney composition. Clin Sci 38:727–739
Kater CE, Biglieri EG, Rost CR, Schambelan M, Hirai J, Chang BCF, Brust N (1985) The constant plasma hydroxycorticosterone to aldosterone ratio: an expression of the efficacy of corticosterone methyl oxidase type II activity in disorders with variable aldosterone production. J Clin Endocrinol Metab 60:225–228
Kater CE, Biglieri EG, Brust N, Chang B, Hirai J, Irony I (1989) Stimulation and suppression of the mineralcorticoid hormones in normal subjects and adrenocortical disorders. Endocr Rev 10:149–164
Mornet E, Dupont J, Vitek A, White PC (1985) Characterization of the two genes encoding human steroid 11β-hydroxylase (P450 11β) J Biol Chem 264:20961–20967
New MJ, Levine LS (1984) Congenital adrenal hyperplasia. Springer, Berlin Heidelberg New York
Rosler A (1984) The natural history of salt wasting disorders of adrenal and renal origin. J Clin Endocrinol Metab 59:689–700
Rosler A, Robinowitz D, Theodor R, Ramirez LC, Ulick S (1977) The nature of the defect in a salt wasting disorder in Jews of Iran. J Clin Endocrinol Metab 44:279–291
Royer P, Lestradet H, deMenibus CH, Vermeil G (1961) Hypoaldosteronisme familial chronique a debut neonatal. Ann Pediatr (Paris) 8:133–138
Ulick S (1976)Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 43:92–96
Veldhuis JD, Melby JC (1981)Isolated aldosterone deficiency in man: acquired and inborn errors in the biosynthesis or action of aldosterone. Endocrinol Rev 2:495–517
Zadik Z, Kahana L, Kaufman H, Benderly A, Hochberg Z (1984) Salt loss in hypertensive form of congenital adrenal hyperplasia (11-β-hydroxylase deficiency). J Clin Endocrinol Metab 58:384–387
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Picco, P., Garibaldi, L., Cotellessa, M. et al. Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy. Eur J Pediatr 151, 170–173 (1992). https://doi.org/10.1007/BF01954376
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01954376