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

European Journal of Pediatrics

Volumn 166, Issue 1, 2007, Pages 1-4

  Strnadová, Kristina A ^a,b   Votava, Felix ^a   Lebl, Jan ^a   Mühl, Adolf ^b   Item, Chike ^b   Bodamer, Olaf A ^b   Torresani, Toni ^c   Bouška, Ivan ^a   Waldhauser, Franz ^b   Sperl, Wolfgang ^d  

^a CHARLES UNIVERSITY   (Czech Republic)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d Paracelsus Medical School   (Austria)

Author keywords

Congenital adrenal hyperplasia; Neonatal screening; Sudden infant death syndrome

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ARTICLE; AUSTRIA; CAUSE OF DEATH; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CYP21 GENE; CZECH REPUBLIC; FATALITY; FEMALE; FLUOROIMMUNOASSAY; GENE; GENE CONVERSION; GENE DELETION; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; NEWBORN; NEWBORN SCREENING; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME; SYMPTOM;

ADRENAL HYPERPLASIA, CONGENITAL; AUSTRIA; CZECH REPUBLIC; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PREVALENCE; SUDDEN INFANT DEATH;

EID: 33845435206     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0154-8     Document Type: Article

References (13)

1. Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, Speiser PW, Day DJ (1999) Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 84:960-966
2. Gruneiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergadá C (2001) Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res 55:271-277
3. Honour JW, Torresani T (2001) Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 55:206-211
4. Hughes I (2002) Congenital adrenal hyperplasia: phenotype and genotype. J Pediatr Endocrinol Metab 15:1329-1340
5. Kovács J, Votava F, Heinze G, Sólyom J, Lebl J, Pribilincová Z, Frisch H, Battelino T, Waldhauser F (2001) Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab 86:2958-2964
6. Krous HF, Beckwith JB, Byard RW, Rognum TO, Bajanowski T, Corey T, Cutz E, Hanlick R, Keens TG, Mitchell EA (2004) Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics 114:234-238
7. Olgemöller B, Roscher AA, Liebl B, Fingerhut R (2003) Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab 88:5790-5794
8. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon ICT, Dobbins RH, Kling S, Fujieda K, Suwa S (1988) Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866-874
9. Ruppen W, Hagenbuch N, Jöhr M, Christen P (2003) Cardiac arrest in an infant with congenital adrenal hyperplasia. Acta Anaesthesiol Scand 47:104-105
10. Therrell BL, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, Gonzalez J, Gunn S (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase deficient congenital adrenal hyperplasia. Pediatrics 101:583-590
11. Torres N, Mello MP, Germano CMR, Elias LLK, Moreira AC, Castro M (2003) Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. Braz J Med Biol Res 36:1311-1318
12. Török D, Mühl A, Votava F, Heinze G, Sólyom J, Crone J, Stöckler-Ipsiroglu S, Waldhauser F (2002) Stability of 17-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage. Clin Chem 48:370-372
13. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291