Congenital adrenal hyperplasia: Neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995

Pediatrics

Volumn 98, Issue 3, 1996, Pages 362-367

  Balsamo, Antonio ^a   Cacciari, Emanuele ^a,b   Piazzi, Sandro ^b   Cassio, Alessandra ^a   Bozza, Daniela ^b   Pirazzoli, Piero ^a   Zappulla, Franco ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

21 hydroxylase deficiency; case survey; Congenital adrenal hyperplasia; neonatal screening

Indexed keywords

STEROID 21 MONOOXYGENASE;

ACCURACY; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; HUMAN; ITALY; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SODIUM DEPLETION; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; FALSE NEGATIVE REACTIONS; FEMALE; HUMANS; HYDROXYPROGESTERONES; INCIDENCE; INFANT, NEWBORN; ITALY; MALE; MASS SCREENING; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; SEX DISTRIBUTION;

EID: 0029839693     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45:1003-1008
2. Pang S, Murphey W, Levine LS, et al. A pilot newborn screening program for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab. 1982;55:413-420
3. Cacciari E, Balsamo A, Cassio A, et al. Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22 233 cases. Horm Res. 1982;16:4-9
4. Naruse H, Suzuki E, Irie M, et al. Neonatal screening for congenital adrenal hyperplasia in Japan. Ann NY Acad Sci. 1985;458:103-110
5. Hofman LF, Kleniecki JE, Smith EK. Direct solid-phase radioimmunoassay for screening 17α-hydroxyprogesterone in whole-blood samples from newborns. Clin Chem. 1985;31:1127-1130
6. Wallace AM, Beastall GH, Cook B, et al. Neonatal screening for congenital adrenal hyperplasia: a programme based on a novel direct radioimmunoassay for 17α-hydroxyprogesterone in blood spot. J Endocrinol. 1986;108:299-308
7. Ahola T, Blomberg K. A time-resolved fluoroimmunoassay for direct measurement of 17α-hydroxyprogesterone in blood spot (Abstract). Prog Pharmacia Wallac Research Symposium on Neonatal Screening, June 18-20 1989, Turku, Finland, page 18
8. Pang S, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81:866-874
9. Cicognani A. The experience of neonatal screening for congenital adrenal hyperplasia. Horm Rrs. 1992;37(suppl 3):34-38
10. Pang S, Clark A. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening. 1993;2:105-139
11. Suwa S. Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan. Screening. 1994;3:141-151
12. Cutfield WS, Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. J Pediatr. 1995;126:118-121
13. Larsson A, Thilen A, Hagenfeldt L, von Dobeln U, Guthenberg C. Screening of half a million Swedish newborn infants for congenital adrenal hyperplasia. Screening. 1992;1:159-166
14. Piazzi S, Capelli M, Paolini M, et al. Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17α-hydroxyprogesterone assay. J Endocrinol Invest. 1982;5:87-90
15. Cacciari E, Balsamo A, Cassio A, et al. Neonatal screening for congenital adrenal hyperplasia. Arch Dis Child. 1983;58:803-806
16. Cacciari E, Balsamo A, Cassio A, et al. Neonatal screening program for congenital adrenal hyperplasia in a homogeneous Caucasian population. Ann NY Acad Sci. 1985;458:85-89
17. New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab. 1983;57:320-327
18. Diem K, Lentner C. Scientific Tables. 7th ed. Basel, Switzerland: Ciba Geigy Limited; 1972:188
19. Fristom JW, Spieth PT. Principles of Genetics. New York, NY: Chiron Press; 1980:533
20. Toyoura T, Sekino T, Saisho S, et al. Neonatal mass screening for congenital adrenal hyperplasia in Tokyo. Screening. 1992;1:115-122
21. Virdi NK, Rayner PHW, Rudd BT, et al. Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Arch Dis Child. 1987;62: 659-662
22. Thilen A, Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand. 1990;79:168-175
23. Wong T, Shackleton CHL, Covey TR, Ellis G. Identification of the steroids in neonatal plasma that interfere with 17α-hydroxyprogesterone radioimmunoassay. Clin Chem. 1992;38:1830-1832
24. Torresani T, Gruters A, Scherz R, Burckhardt JJ, Harras A, Zachmann M. Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17α-hydroxyprogesterone to gestational age. Screening. 1994;3:77-84