Analysis of glucocorticoid metabolites in the neonatal period: Catabolism of cortisone acetate by an infant with 21-hydroxylase deficiency

The urinary excretion of 27 individual 17-hydroxycorticosteroids by a female infant with 21-hydroxylase deficiency was studied using gas chromatography on an open-tubular column and combined gas chromatography-mass spectrometry. Samples were analysed from days 1, 3 and 4 of life, before cortisone acetate treatment commenced on day 6, and on days 9 and 192, during treatment. The pattern of metabolites before and after treatment showed similarities with extensive reductions at positions 3 and 20 of the steroid nucleus and hydroxylations at positions 1 and 6. The following new glucocorticoid metabolites were identified: 1β,3α,17α,21-tetrahydroxy-5α(andβ)-pregnane-11,20-dione; 3α,6ξ,17α,21-tetrahydroxy-5ξ-pregnane-11,20-dione (2 epimers); 1β,3α,17α,20α(and β),21-pentahydroxy-5β-pregnan-11-one, and 3α,6ξ,17α,20α (and β),21-pentahydroxy-5β-pregnan-11-one. These steroids comprised 50% of the total metabolites on day 9, but only 20% on day 192. They have also been detected in the urine of normal neonates.