Detection of 3 beta-hydroxysteroid-dehydrogenase deficiency by urinary steroid profiling: solvolysis of urinary samples should be a necessary prerequisite.
A urinary steroid profile from a patient with suspected 3 beta-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 3 beta-HSD deficiency by urinary steroid profiling.
Wolthers
B G
BG
Volmer
M
M
van Seters
A P
AP
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000652:urine; D000328:Adult; D002849:Chromatography, Gas; D003687:Dehydroepiandrosterone / Q000652:urine; D006801:Humans; D008297:Male; D008722:Methods; D011283:Pregnenes / Q000652:urine; D013256:Steroids / Q000652:urine*
D011283:Pregnenes; D013256:Steroids; D003687:Dehydroepiandrosterone; C026087:5-pregnene-3 beta,17 alpha,20 alpha-triol; D015096:3-Hydroxysteroid Dehydrogenases