Evidence against significant 19-nor-deoxycorticosterone production in patients with 17 alpha-hydroxylase deficiency.
Tetrahydro-19-nor-deoxycorticosterone (3 alpha, 21-dihydroxy-19-nor-5 beta-pregnan-20-one, a presumed metabolite of 19-nor-DOC was sought in the conjugated steroid fractions of urine from patients with 17 alpha-hydroxylase deficiency syndrome. The reference material was prepared by microbial reduction (Clostridium paraputrificum) of 19-nor-DOC. Urinary steroid fractions of appropriate polarity were examined by high resolution gas chromatography and gas chromatography/mass spectrometry (GC/MS) but no tetrahydro-19-nor-DOC was found. The high selectivity of the GC/MS technique ensured that the excretion of this compound could not exceed about 1% of the excretion of tetrahydroDOC. Assuming that tetrahydro-19-nor-DOC is a major metabolite of 19-nor-DOC, it can be stated that 19-nor-DOC production is not a significant feature of 17 alpha-hydroxylase deficiency. This assumption may not be valid if 19-nor-DOC is formed from DOC in the kidney and is excreted unmetabolized soon after synthesis.
D000312:Adrenal Hyperplasia, Congenital; D002849:Chromatography, Gas; D003900:Desoxycorticosterone / Q000031:analogs & derivatives* / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013256:Steroids / Q000652:urine
D013256:Steroids; D003900:Desoxycorticosterone; C019026:19-nordeoxycorticosterone; D013250:Steroid Hydroxylases