Detection of 3β-hydroxysteroid-dehydrogenase deficiency by urinary steroid profiling: solvolysis of urinary samples should be a necessary prerequisite

Abstract

A urinary steroid profile from a patient with suspected 3β-HSD deficiency was prepared using capillary gas chromatography, employing only enzymatic deconjugation with Helix pomatia juice. In the chromatogram only very small peaks of dehydroepiandrosterone and 5-pregnenetriol were visible apart from other, for the diagnosis non-significant, peaks. However, after repeating the analysis including an additional solvolysis step, highly significant peaks of DHEA and 5-pregnenetriol became apparent, which suggests the necessity for a solvolysis step for a positive proof of 3β-HSD deficiency by urinary steroid profiling.