Evaluation of neonatal screening for congenital adrenal hyperplasia

Hormone Research

Volumn 55, Issue 4, 2001, Pages 206-211

  Honour, John W ^a,c   Torresani, Toni ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Universitats Kinderklinik   (Switzerland)

^c UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

21 Hydroxylase deficiency; Congenital adrenal hyperplasia; Screening procedures

Indexed keywords

CORTICOTROPIN; HYDROXYPROGESTERONE; TETRACOSACTIDE;

ARTICLE; BLOOD SAMPLING; CONGENITAL ADRENAL HYPERPLASIA; COST BENEFIT ANALYSIS; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; EUROPE; GENETIC ANALYSIS; HEALTH CARE; HUMAN; HYPOTHYROIDISM; NEWBORN SCREENING; PRIORITY JOURNAL; STANDARDIZATION;

EID: 0035743113     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000049997     Document Type: Article

References (38)

1. Congenital adrenal hyperplasia - A continuum of disorders
2. Newborn screening: Principles and practice
3. Effect of newborn screening for congenital adrenal hyperplasia
4. Congenital adrenal hyperplasia in Britain: A retrospective analysis (1958-1985
5. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
6. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
7. Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17α-hydroxyprogesterone to gestational age
8. Newborn screening for congenital adrenal hyperplasia in New Zealand
9. Congenital adrenal hyperplasia: Neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy 1980-1995
10. Neonatal screening in New Zealand
11. Dépistage de l'hyperplasie surrénale congénitale par deficit en 21-hydroxylase. Expérience de l'association française pour le dépistage et la prévention des handicaps de l'enfant
12. 21-Hydroxylase deficiency: Screening and incidence in Israel
13. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
14. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden
15. Study of a kindred with classic congenital adrenal hyperplasia: Diagnostic challenge due to phenotypic variance
16. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
17. Distribution of deletions and seven point mutations on CYP21 genes in the three clinical forms of steroid 21-hydroxylase deficiency
18. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
19. Microfilter paper methods for 17-hydroxyprogesterone radioimmunoassay: Its application for rapid screening of congenital adrenal hyperplasia
20. Identification of the steroids in neonatal plasma that interfere with 17-hydroxyprogesterone radioimmunoassays
21. Cortisol in dried blood screening specimens with raised 17-hydroxyprogesterone and congenital adrenal hyperplasia
22. Congenital adrenal hyperplasia (CAH) - The place for prenatal treatment and neonatal screening
23. Survey of scope of neonatal screening in the United Kingdom
24. Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism
25. Adrenal status during the first month of life in term and immature infants
26. Screening for congenital adrenal hyperplasia: The Delfia screening test overestimates serum 17-hydroxyprogesterone in preterm infants
27. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels
28. Delayed diagnosis of infants with abnormal neonatal screens
29. Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency
30. Clinical indications for urinary steroid profile analysis in neonates and children
31. Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype
32. Genotyping is a valuable complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
33. Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis
34. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
35. A comparative cost analysis of newborn screening for classic congenital adrenal hyperplasia in Texas
36. Simultaneous quadruple-label fluorometric immunoassay of thyroid-stimulating hormone, 17́-hydroxyprogesterone, immunoreactive trypsin and creatinine kinase MM isoenzyme in dried blood spots
37. Mortality in patients with congenital adrenal hyperplasia: A cohort study
38. A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism