Steroid Excretion by an Infant with an Unusual Salt-Losing Syndrome: A Gas Chromatographic–Mass Spectrometric Study

The excretion of steroids by an infant with pseudohypoaldosteronism is reported. The patient presented with symptoms of hyperkalaemia and hyponatraemia, and was maintained for a period on a high salt intake and mineralocorticoids. However, he collapsed on the 48th day of life and could not be resuscitated. The urinary steroids were identified by combined gas chromatography–mass spectrometry and quantitation was achieved by gas chromatography. The following steroids were identified: tetrahydroaldosterone, tetrahydrocortisone, α- and β-cortolone, 1 β-hydroxytetrahydrocortisone, 1 β-hydroxycortolone, tetrahydrocorticosterone (THB), tetrahydro-11-dehydrocorticosterone (THA), 3α, 20α, 21-trihydroxy-5β-pregnan-ll-one, 5-pregnene-3β, 16α, 20α, 21-tetrol, and 5-androstene-3β, 16αa, 17β-tiiol. The patient evidently secreted an excess of aldosterone so the disorder was probably due to a form of renal-tubule unresponsiveness to this hormone. Some of the urinary steroids normally excreted in large amounts during infancy (16α-hydroxy DHA, 16-oxo-androstenediol, and 16α-hydroxypregnenolone) were not detected in the urine samples, and it is suggested that the precursor of these steroids (pregnenolone) was being fully utilised in the synthesis of aldosterone and cortisol.