Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary

European Journal of Pediatrics

Volumn 162, Issue 12, 2003, Pages 844-849

  Török, Dóra ^a   Eckhardt, Gudrun ^a   Sólyom, János ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

21 Hydroxylase deficiency; Blood spot 17 hydroxyprogesterone; Congenital adrenal hyperplasia

Indexed keywords

HYDROXYPROGESTERONE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; HUMAN; HUNGARY; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; NEWBORN SCREENING; PRIORITY JOURNAL; RADIOIMMUNOASSAY; RETROSPECTIVE STUDY; SALT LOSING NEPHRITIS; SENSITIVITY AND SPECIFICITY;

17-ALPHA-HYDROXYPROGESTERONE; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; COST-BENEFIT ANALYSIS; FEMALE; HUMANS; HUNGARY; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; RADIOIMMUNOASSAY; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 0347589343     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1311-y     Document Type: Article

References (25)

1. Balsamo A, Cacciari E, Piazzi S, Cassio A, Bozza D, Pirazzoli P, Zappulla F (1996) Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. Pediatrics 98: 362-367
2. Brosnan CA, Brosnan P, Therrell BL, Slater CH, Swint JM, Annegers JF, Riley WJ (1998) A comparative cost analysis of newborn screening for classical congenital adrenal hyperplasia in Texas. Public Health Reports 113: 170-178
3. Brosnan PG, Brosnan CA, Kemp SF, Domek DB, Jelley DH, Blackett PR, Riley WJ (1999) Effect of newborn screening for congenital adrenal hyperplasia. Arch Dis Pediatr Adolesc Med 153: 1272-1278
4. Donaldson MD, Thomas PH, Love JG, Murray GD, McNich AW, Savage DC (1994) Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency. Arch Dis Child 70: 214-218
5. Ferenczi A, Garami M, Kiss E, Pék M, Sasvári- Székely M, Barta C, Staub M, Sólyom J, Fekete G (1999) Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 84: 2369-2372
6. Hargitai G, Sólyom J, Battelino T, Lebl J, Pribilincová Z, Hauspie R, Kovács J, Waldhauser F, Frisch H and the MEWPE-CAH study group (2001) Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Horm Res 55: 161-171
7. Homoki J, Sólyom J, Teller WM (1988) Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents. Eur J Pediatr 147: 257-262
8. Homoki J, Sólyom J, Wachter U, Teller WM (1992) Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Eur J Pediatr 151: 24-28
9. Honour JW, Torresani T (2001) Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 55: 206-211
10. Joint ESPE/LWPES CAH working group (2002) Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 58: 188-195
11. 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
12. Kwon C, Farrell PM (2000) The magnitude of false-positive newborn screening test results. Arch Pediatr Adolesc Med 154: 714-718
13. Pang S, Shook MK (1997) Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr 9: 419-423
14. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI (1977) Microfilter paper method for 17-hydroxyprogesterone radio-immunoassay, its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 45: 1003-1008
15. Sólyom J (1981) Blood-spot 17α-hydroxyprogesterone radio-immunoassay in the follow-up of congenital adrenal hyperplasia. Clin Endocrinol 14: 547-553
16. Sólyom J, Hughes IA (1989) Value of selective screening for congenital adrenal hyperplasia in Hungary. Arch Dis Child 64: 338-342
17. Sólyom J, Hammond GL, Vihko R (1979) A method for identification and follow-up of patients with a steroid-21-hydroxylase deficiency. Clin Chim Acta 92: 117-124
18. Sólyom J, Rácz K, Péter F, Homoki J, Sippel WG, Peter M (2001) Clinical, hormonal and molecular genetic characterization of Hungarian patients with 11β-hydroxylase deficiency. J Endocrine Genet 2: 37-44
19. Therrell BL (2001) Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30: 15-30
20. 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
21. Thilén A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthenberg C, Larsson A (1998) Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 101: 694
22. Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH (2001) Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 108: 1320-1324
23. Virdi NK, Rayner PHW, Rudd BT, Green A (1987) Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Arch Dis Child 62: 659-662
24. Votava F, Török D, Kovács J, Möslinger D, Sólyom J, Pribilincova Z, Battelino T, Lebl J, Frisch H, Waldhauser F for the MEWPE-CAH (2002) Estimation of the false negative rate in the newborn screening of congenital adrenal hyperplasia. Horm Res 58[Suppl 2]: 98
25. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21: 245-291