Steroids 2012 Nov 3;77(13):1487-501. Epub 2012 Sep 3.
Department of Clinical Biochemistry, King's College Hospital, Denmark Hill, London SE5 9RS, UK.
Urine from neonates with 21-hydroxylase deficiency contains a large range of androstane(ene)s, many of which have not been previously described. We present their characterization as the third part of a comprehensive study of urinary steroids, aiming to enhance the diagnosis of this disorder and to further elucidate steroid metabolism in neonates. Steroids were analyzed, after extraction and enzymatic conjugate hydrolysis, as methyloxime-trimethylsilyl ether derivatives on gas-chromatographs coupled to quadrupole and ion-trap mass-spectrometers. Read More