STEROID EXCRETION PATTERNS IN URINE FROM TWO BOYS IN THE NEONATAL PERIOD WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

Abstract

Gas chromatography-mass spectrometry was used in a study of the excretion of steroids in urine in two normal boys one month of age and in two boys of the same age with clinical signs of 21-hydroxylase deficiency. A similar pattern of 3β-hydroxy-Δ⁵-steroids – including 3β,21-dihydroxy-5-pregnen-20-one and 5-pregnene-3β,20α,21-triol – was unexpectedly found in the mono- and disulphate fractions of urine from both the normal subjects and the patients. However, only the patients excreted saturated steroids in the urine indicating the adrenal secretion of progesterone and 17α-hydroxyprogesterone. The results indicate the presence in the adrenal cortex of at least two separate 21-hydroxylase systems, one active on pregnenolone and one on 17α-hydroxyprogesterone. Furthermore, the excretion of large amounts of saturated steroids in the urine of the patients indicates a high activity of adrenal 3β-hydroxy-Δ⁵-steroid oxidoreductase.