Determination of steroid profiles in healthy and diseased states: identification and quantitation of a block of 17 alpha-hydroxylase.
The steroid metabolic profile on a patient with a suspected block in steroid biosynthesis was analyzed by gas chromatography and gas chromatography-mass spectrometry. The results of this work led to an interpretation of a block at the 17 alpha-hydroxylase step. Although the steroid metabolic profile was complex, we could not detect any steroids with a hydroxy moiety at position C-17. The use of gas chromatography-mass spectrometry, in this case, was the method of choice for a final diagnosis because of the confusion that resulted from other, more classical, forms of analysis. Data from our patient's sample are reported and compared to normals and to other cases where a block in 17 alpha-hydroxylase have been reported.
D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000728:Androgens / Q000097:blood / Q000652:urine; D006063:Chorionic Gonadotropin; D003345:Corticosterone / Q000097:blood; D003900:Desoxycorticosterone / Q000097:blood; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000652:urine; D011374:Progesterone / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*
D000728:Androgens; D006063:Chorionic Gonadotropin; D003900:Desoxycorticosterone; D011374:Progesterone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D003345:Corticosterone; D006854:Hydrocortisone