A new marker for early diagnosis of 21-hydroxylase deficiency: 3beta,16alpha,17alpha-trihydroxy-5alpha-pregnane-7,20-dione.
Christakoudi
Sofia
S
Department of Clinical Biochemistry, King's College Hospital, Denmark Hill, London SE5 9RS, UK. hristakudi@doctor.bg
Cowan
David A
DA
Taylor
Norman F
NF
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D015415:Biomarkers / Q000652:urine*; D016022:Case-Control Studies; D042241:Early Diagnosis; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D011277:Pregnanediones / Q000652:urine; D053719:Tandem Mass Spectrometry
C551851:3beta,16alpha,17alpha-trihydroxy-5alpha-pregnane-7,20-dione; D015415:Biomarkers; D011277:Pregnanediones