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Horm Res Paediatr. 2012;77(3):195-9. doi: 10.1159/000337974. Epub 2012 Apr 13.

Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing.

Author information

1
Department of Neuropediatrics, Children's Hospital, Ruhr University of Bochum, Bochum, Germany. n.janzen@klinikum-bochum.de

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.

PMID:
22508345
DOI:
10.1159/000337974
[Indexed for MEDLINE]
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