This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped. Three infants out of 242 may have had unrecognized CAH due to CYP21 (steroid 21-hydroxylase) gene defect. Their newborn 17-OHP levels and CYP21 genotypes were 706 nmol/l and del/conv//del/conv, 53 nmol/l and I2//I2, and 811 nmol/l and I2//Gln318stop, respectively. CAH due to CYP21 defect can lead to sudden unexpected death without prior symptoms typical for the condition. Hence, newborn screening would have prevented these deaths had it been available. In addition, we have shown that the I2 point mutation that is expected to lead to simple virilizing form may lead to a fatal outcome.

Department of Pediatrics 3rd Faculty of Medicine Charles University CZ 100 81 Prague Czech Republic

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Clin Chem. 2002 Feb;48(2):370-2 PubMed

J Clin Endocrinol Metab. 1999 Mar;84(3):960-6 PubMed

J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1329-40 PubMed

J Clin Endocrinol Metab. 2003 Dec;88(12):5790-4 PubMed

Pediatrics. 1998 Apr;101(4 Pt 1):583-90 PubMed

Horm Res. 2001;55(4):206-11 PubMed

Pediatrics. 2004 Jul;114(1):234-8 PubMed

J Clin Endocrinol Metab. 2001 Jul;86(7):2958-64 PubMed

Endocr Rev. 2000 Jun;21(3):245-91 PubMed

Acta Anaesthesiol Scand. 2003 Jan;47(1):104-5 PubMed

Pediatrics. 1988 Jun;81(6):866-74 PubMed

Horm Res. 2001;55(6):271-7 PubMed

Braz J Med Biol Res. 2003 Oct;36(10 ):1311-8 PubMed

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance