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      Analysis of steroids in urine for differentiation of pseudohypoaldosteronism and aldosterone biosynthetic defect.

      The Journal of Clinical Endocrinology and Metabolism

      Aldosterone, analogs & derivatives, biosynthesis, urine, Child, Preschool, Chromatography, Gas, Corticosterone, Diagnosis, Differential, Female, Humans, Hydrocortisone, Infant, Infant, Newborn, Male, Metabolism, Inborn Errors, Renal Tubular Transport, Inborn Errors, Renin, blood, Sodium, Sodium Chloride, Syndrome

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          The salt-losing syndromes in the neonatal period and early infancy due to adrenal disease can be differentiated by the pattern of excretion of steroids in urine. The presence or absence of metabolites of cortisol, aldosterone, and corticosterone as well as certain precursors can be established in a single analysis of steroids in urine by using gas chromatography with open tubular capillary columns. The profiles of steroid excretion in the urine of 8 infants with renal tubular insensitivity to aldosterone were compared with those in 5 infants with isolated aldosterone biosynthetic defects. The excretion in urine of 18 hydroxytetrahydro-compound A was elevated in all 13 children, but relative to the excretion of tetrahydroaldosterone, a high ratio was found for the biosynthetic defect and clearly distinguished the 2 conditions. Age-related changes in steroid metabolism are described. The diagnosis in each case was supported by clinical investigation together with determinations of PRA and aldosterone concentrations.

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