MULTICOMPONENT GAS CHROMATOGRAPHIC ANALYSIS OF URINARY STEROIDS EXCRETED BY AN INFANT WITH A DEFECT IN ALDOSTERONE BIOSYNTHESIS

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Abstract
Urinary steroids excreted by an infant with a salt-wasting syndrome due to a suspected defect in the 18-oxidation of corticosterone were analyzed by gas chromatography-mass spectrometry. The excretion of tetrahydroaldosterone was low (3.5 .mu.g/24 h), while the excretion of 3.alpha.,11.beta.,21-trihydroxy-5.alpha.-pregnan-20-one (allo-tetrahydrocorticosterone) and other corticosterone metabolites was high (total about 2 mg/24 h). The excretion of cortisol metabolites was apparently normal for age (total about 2 mg/24 h, but 3.alpha.,11.beta.,17.alpha.,21-tetrahydroxy-5.alpha.-pregnan-20-one (allo-tetrahydrocortisol) rather than tetrahydrocortisone, was the major component of the group. The excretion of an 18-hydroxycorticosterone metabolite 3.alpha.,18,21-trihydroxy-5.beta.-pregnane-11,20-dione (18-hydroxytetrahydroCompound A) was higher than normal for infants of this age (between 50 and 200 .mu.g/24 h), suggesting that the defect was in 18-hydroxysteroid dehydrogenase rather than 18-hydroxylase. 18-Hydroxytetrahydrocosterone, another metabolite of 18-hydroxycorticosterone, was tentatively identified; the rate of excretion of this compound was of similar magnitude to 18-hydroxytetrahydroCompound A. The salt balance of the infant was successfully controlled by salt administration (77 meq/24 h) and treatment with fludrocortisone (0.5 mg/day).

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