Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC-MS and GC-MS/MS, of androstanes and androstenes

► Androstane(ene)s were examined in urine from neonates with 21-hydroxylase deficiency. ► The major 3β-hydroxy-5-enes in disease are identical to those in unaffected neonates. ► GC-MS and GC-MS/MS characterization of androstanes andandrostenediones is presented. ► New metabolites contain 6,11,16-oxo and 2α/β,6α,11β,16 and 18-hydroxy groups. ► Multiple metabolites of androstenedione indicate dominance of the classical pathway.