@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}
}