Abstract
The urinary steroid metabolites of 2 male siblings with congenital adrenal hyperplasia of a suspected 11β-hydroxylase deficiency have been studied in our laboratory by gas chromatography (GC) and gas chromatographymass spectrometry (GC-MS). Preliminary identification of steroids is based on the direct comparison of GC retention indices (RI) with those of reference compounds. The use of at least two oxime-trimethyl-silyl derivatives not only enhances the reliability of the method when RI values are used for the sole criteria of identification but can afford some structural characterization of unknowns. Mass spectrometry is used for absolute confirmation. The profile pattern of this syndrome is distinguished from that of normal subjects by greatly elevated secretion rates of atypical neutral steroids. The tentative identification of a pregnantetrol present in both these extracts has also been achieved.
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