Steroid excretion in a case of 17 alpha-hydroxylase deficiency investigated by computerized gas chromatography-mass spectrometry.
DOI:
https://doi.org/10.20344/amp.4390Abstract
The urinary steroids of a patient with congenital adrenal hyperplasia, hypertension and primary amenorrhea originated from a 17α-hydroxylase defect was investigated by on line-computerized gas chromatography-mass spectrometry using an open tubular capillary column. Steroids were detected, characterized or identified after methyloximetrimethylsilyl ether derivatization by a sequential analysis of mass spectra taken every 8 s and by computerized fragment ion current chrornatography. No 17 α-hydroxylated steroids were found among the 24 detected metabolites. The most important steroids for diagnostic purposes found in this urine are: 5β-pregnane-3α, 20α-diol, 5β-(and 5α-) pregnane-3α, 11β-20α-triols, 5β-(and 5α-) pregnane-3α, 11β, 20β, 21-tetrols, 11-keto-5β-pregnane-3α, 20α-diol, 3α, 11β, 21-trihydroxy-5β-pregnan-11-one (allo-THB), 3α, 11β, 21-trihydroxy-5α-pregnan-11-one (allo-THB) and 3β, 11β, 21-trihydroxy-5α-pregnan-11-one (allo-3β-THB). Two metabolites with unusual structures: 11-keto-1,3,21-trihydroxy-steroids have been also found in this urine. A screening method is described for a rapid analysis of C21-steroids in small amounts of urine which can be used for the diagnosis of inborn errors of corticosteroid biosynthesis.
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