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