000K utf8 1100 $c2012 1500 eng 2050 urn:nbn:de:gbv:8-mods-2020-00560-0 2051 10.1159/000337974 3000 Janzen, Nils 3010 Brack, Christoph 3010 Heger, Sabine 3010 Korsch, Eckhard 3010 Krull, Friedrich 3010 Müller, Hermann L 3010 Peter, Michael 3010 Riepe, Felix G 3010 Sander, Johannes 3010 Sander, Stefanie 3010 Steuerwald, Ulrike 4000 Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing [Janzen, Nils] 4209 21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing.Over a period of 5 years, screening for CAH was done in a total of 986,098 newborns by time-resolved immunoassay (DELFIA®) for 17α-hydroxyprogesterone (17-OHP). Positive samples were subsequently analyzed in an LC-MS/MS second-tier test including 17-OHP, cortisol, 11-deoxycortisol, 4-androstenedione and 21-deoxycortisol.In addition to 78 cases of 21-OHD, 5 patients with 11-OHD were identified. Diagnostic parameters were a markedly elevated concentration of 11-deoxycortisol in the presence of a low level of cortisol. Androstenedione was also increased. In contrast to 21-OHD, concentrations of 21-deoxycortisol were normal.Steroid profiling in newborn blood samples showing positive results in immunoassays for 17-OHP allows for differentiating 21-OHD from 11-OHD. This procedure may not detect all cases of 11-OHD in the newborn population because there may be samples of affected newborns with negative results for 17-OHP in the immunoassay. 4950 https://doi.org/10.1159/000337974$xR$3Volltext$534 4950 https://nbn-resolving.org/urn:nbn:de:gbv:8-mods-2020-00560-0$xR$3Volltext$534 4961 https://macau.uni-kiel.de/receive/macau_mods_00000324 5051 610 5550 17-alpha-Hydroxyprogesterone 5550 Adrenal Hyperplasia, Congenital 5550 Androstenedione 5550 Cortodoxone 5550 False Positive Reactions 5550 Female 5550 Humans 5550 Hydrocortisone 5550 Infant 5550 Infant, Newborn 5550 Male 5550 Neonatal Screening 5550 Steroid 11-beta-Hydroxylase