Multicomponent gas chromatographic analysis of urinary steroids excreted by an infant with a defect in aldosterone biosynthesis.
The urinary steroids excreted by an infant with a salt-wasting syndrome due to a suspected defect in the 18-oxidation of corticosterone have been analysed by gas chromatography-mass spectrometry. The excretion of tetrahydroaldosterone was low (3.5 mug/24 h) whilst the excretion of 3alpha,11beta,21-trihydroxy-5alpha-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 3alpha,11beta,17alpha,21-tetrahydroxy-5alpha-pregnan-20-one (allo-tetrahydrocortisol) rather than tetrahydrocortisone, was the major component of the group. The excretion of an 18-hydroxycorticosterone metabolite 3alpha,18,21-trihydroxy-5beta-pregnane-11,20-dione (18-hydroxytetrahydroCompound A) was higher than normal for infants of this age (between 50 and 200 mug/24 h), suggesting that the defect was in 18-hydroxysteroid dehydrogenase rather than 1,-hydroxylase. In addition, 18-hydroxytetrahydrocorticosterone, another metabolite of 18-hydroxycorticosterone was tentatively identified and it was found that the rate of excretion of this compound was of similar magnitude to 18-hydroxytetrahydroCompound A. The salt balance of the infant has been sucessfully controlled by salt administration (77 mEq./24 h) and treatment with Fludrocortisone (0.5 mg/day).
D015069:18-Hydroxycorticosterone / Q000652:urine; D000450:Aldosterone / Q000031:analogs & derivatives / Q000096:biosynthesis* / Q000652:urine; D002849:Chromatography, Gas / Q000379:methods; D003345:Corticosterone / Q000652:urine*; D006801:Humans; D006854:Hydrocortisone / Q000652:urine*; D006913:Hydroxysteroid Dehydrogenases / Q000172:deficiency; D007223:Infant; D008297:Male; D008659:Metabolic Diseases / Q000097:blood / Q000188:drug therapy / Q000652:urine*; D011188:Potassium / Q000097:blood; D012964:Sodium / Q000097:blood; D012965:Sodium Chloride / Q000378:metabolism / Q000627:therapeutic use; D013760:Tetrahydrocortisol / Q000652:urine; D013761:Tetrahydrocortisone / Q000652:urine
D012965:Sodium Chloride; D000450:Aldosterone; D015069:18-Hydroxycorticosterone; D013761:Tetrahydrocortisone; D013760:Tetrahydrocortisol; D012964:Sodium; D006913:Hydroxysteroid Dehydrogenases; D011188:Potassium; D003345:Corticosterone; D006854:Hydrocortisone