PT Journal AU Janzen, N Riepe, FG Peter, M Sander, S Steuerwald, U Korsch, E Krull, F Müller, HL Heger, S Brack, C Sander, J TI Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing SO Hormone research in paediatrics : from developmental endocrinology to clinical research PY 2012 BP 195 EP 199 VL 77 IS 3 PU S. Karger AG DI 10.1159/000337974 WP https://macau.uni-kiel.de/receive/macau_mods_00000324 LA en DE Humans; Adrenal Hyperplasia, Congenital; Androstenedione; Cortodoxone; Hydrocortisone; 17-alpha-Hydroxyprogesterone; Steroid 11-beta-Hydroxylase; False Positive Reactions; Neonatal Screening; Infant; Infant, Newborn; Female; Male SN 1663-2818 AB 21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing.Over a period of 5 years, screening for CAH was done in a total of 986,098 newborns by time-resolved immunoassay (DELFIA®) for 17α-hydroxyprogesterone (17-OHP). Positive samples were subsequently analyzed in an LC-MS/MS second-tier test including 17-OHP, cortisol, 11-deoxycortisol, 4-androstenedione and 21-deoxycortisol.In addition to 78 cases of 21-OHD, 5 patients with 11-OHD were identified. Diagnostic parameters were a markedly elevated concentration of 11-deoxycortisol in the presence of a low level of cortisol. Androstenedione was also increased. In contrast to 21-OHD, concentrations of 21-deoxycortisol were normal.Steroid profiling in newborn blood samples showing positive results in immunoassays for 17-OHP allows for differentiating 21-OHD from 11-OHD. This procedure may not detect all cases of 11-OHD in the newborn population because there may be samples of affected newborns with negative results for 17-OHP in the immunoassay. PI Basel ER