European Journal of Pediatrics

, Volume 166, Issue 1, pp 1–4

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria

  • Kristina A. Strnadová
  • Felix Votava
  • Jan Lebl
  • Adolf Mühl
  • Chike Item
  • Olaf A. Bodamer
  • Toni Torresani
  • Ivan Bouška
  • Franz Waldhauser
  • Wolfgang Sperl
Original Paper

DOI: 10.1007/s00431-006-0154-8

Cite this article as:
Strnadová, K.A., Votava, F., Lebl, J. et al. Eur J Pediatr (2007) 166: 1. doi:10.1007/s00431-006-0154-8

Abstract

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.

Keywords

Sudden infant death syndromeNeonatal screeningCongenital adrenal hyperplasia

Abbreviations

17-OHP

17-hydroxyprogesterone

CAH

Congenital adrenal hyperplasia

CYP21

Gene encoding steroid 21-hydroxylase

Del/conv//del/conv

chimericCYP21/CYP21//chimericCYP21/CYP21

I2//I2

656A/C > G//656A/C > G

I2//Gln318stop

656A/C > G//Gln318stop

SIDS

Sudden infant death syndrome

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Kristina A. Strnadová
    • 1
    • 2
  • Felix Votava
    • 1
  • Jan Lebl
    • 1
  • Adolf Mühl
    • 2
  • Chike Item
    • 2
  • Olaf A. Bodamer
    • 2
  • Toni Torresani
    • 3
  • Ivan Bouška
    • 4
  • Franz Waldhauser
    • 2
  • Wolfgang Sperl
    • 5
  1. 1.Department of Pediatrics, 3rd Faculty of MedicineCharles UniversityPragueCzech Republic
  2. 2.Division of Biochemical and Paediatric Genetics, Department of General PaediatricsMedical University of ViennaViennaAustria
  3. 3.Department of EndocrinologyUniversity Children’s HospitalZurichSwitzerland
  4. 4.Department of Forensic Medicine, 2nd Faculty of MedicineCharles UniversityPragueCzech Republic
  5. 5.Department of General PediatricsParacelsus Medical School, LandeskrankenhausSalzburgAustria