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- Title
Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing.
- Authors
Janzen, Nils; Riepe, Felix G.; Peter, Michael; Sander, Stefanie; Steuerwald, Ulrike; Korsch, Eckhard; Krull, Friedrich; Müller, Hermann L.; Heger, Sabine; Brack, Christoph; Sander, Johannes
- Abstract
Background: 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. Method: 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. Results: 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. Conclusion: 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. Copyright © 2012 S. Karger AG, Basel
- Subjects
ADRENOGENITAL syndrome; GENETIC testing; HYDROXYLASE genetics; STEROID drugs; DIAGNOSIS of neonatal diseases
- Publication
Hormone Research in Paediatrics, 2012, Vol 77, Issue 3, p195
- ISSN
1663-2818
- Publication type
Article
- DOI
10.1159/000337974