@Article{macau_mods_00000324, author = {Janzen, Nils and Riepe, Felix G. and Peter, Michael and Sander, Stefanie and Steuerwald, Ulrike and Korsch, Eckhard and Krull, Friedrich and M{\"u}ller, Hermann L. and Heger, Sabine and Brack, Christoph and Sander, Johannes}, title = {Neonatal screening: identification of children with 11$\beta$-hydroxylase deficiency by second-tier testing}, journal = {Hormone research in paediatrics : from developmental endocrinology to clinical research}, year = {2012}, publisher = {S. Karger AG}, address = {Basel}, volume = {77}, number = {3}, pages = {195--199}, keywords = {Humans; Adrenal Hyperplasia, Congenital; Androstenedione; Cortodoxone; Hydrocortisone; 17-alpha-Hydroxyprogesterone; Steroid 11-beta-Hydroxylase; False Positive Reactions; Neonatal Screening; Infant; Infant, Newborn; Female; Male}, abstract = {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 11$\beta$-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 17$\alpha$-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.}, issn = {1663-2818}, doi = {10.1159/000337974}, url = {https://macau.uni-kiel.de/receive/macau_mods_00000324}, url = {https://doi.org/10.1159/000337974}, url = {http://www.ncbi.nlm.nih.gov/pubmed/22508345}, file = {:https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00001307/337974.pdf:PDF}, language = {en} }