Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

Archives of Disease in Childhood

Volumn 97, Issue 2, 2012, Pages 101-106

  Khalid, Javaria Mona ^a   Oerton, Juliet M ^a   Dezateux, Carol ^a   Hindmarsh, Peter C ^b   Kelnar, Christopher J ^c   Knowles, Rachel L ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ADOLESCENT; ARTICLE; CHILD; CONFIDENCE INTERVAL; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENITAL SYSTEM; HEALTH SURVEY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; SALT WASTING; SCHOOL CHILD; UNITED KINGDOM;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; AGE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; EPIDEMIOLOGIC METHODS; FEMALE; GREAT BRITAIN; HUMANS; INFANT; INFANT, NEWBORN; MALE; SEX DISTRIBUTION; STEROID 21-HYDROXYLASE; VIRILISM;

EID: 84856107011     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2011-300234     Document Type: Article

References (40)

1. Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res 2007;67:284-91. (Pubitemid 46701493)
2. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003;349:776-88.
3. New M. Description and defense of prenatal diagnosis and treatment with low-dose dexamethasone for congenital adrenal hyperplasia. Am J Bioeth 2010;10:48-51.
4. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-91. (Pubitemid 32275589)
5. Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133-60.
6. Pollitt RJ, Green A, McCabe CJ, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess 1997;1:i-iv, 1-202.
7. Seymour CA, Thomason MJ, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1997;1:i-iv, 1-95.
8. UK National Screening Committee. UK NSC Policy database: Congenital Adrenal Hyperplasia (policy currently under review), http://www.screening.nhs. uk/congenitaladrenalhyperplasia (accessed 10 Dec 2011).
9. Rudd BT. Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study. J Inherit Metab Dis 1986;9 Suppl 1:155-6. (Pubitemid 17189786)
10. Wallace AM. Review of CAH screening programmes and the Scottish experience. J Inherit Metab Dis 1986;9 Suppl 1:135-41. (Pubitemid 17189782)
11. McKiernan J. Congenital adrenal hyperplasia in the Republic of Ireland, 1966-1982. Ir Med J 1985;78:6-7.
12. Wooding K, Gregory JW. Congenital adrenal hyperplasia. Research report of the Welsh Paediatric Surveillance Unit, 2000. http://wwww.welsh-paediatrics. org.uk/congenital-adrenal-hyperplasia (accessed 10 Dec 2011).
13. Knowles RL, Friend H, Lynn R, et al. Surveillance of rare diseases: a public health evaluation of the British Paediatric Surveillance Unit. J Public Health 2011;(In Press) doi: 10.1093/pubmed/fdr058.
14. Prader A. (Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms). Helv Paediatr Acta 1954;9:231-48.
15. Office of National Statistics. Census 2001 - Ethnicity and religion figures and rankings for local authority districtrs in England and Wales. http://www.ons. gov.uk/ons/publications/re-reference-tables.html?edition= tcm%3A77-225846 (accessed 10 Dec 2011).
16. Rahi JS, Dezateux C. Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci 2001;42:1444-8. (Pubitemid 32520733)
17. Breslow NE, Day NE. Statistical methods in cancer research. Volume II-The design and analysis of cohort studies. IARC Sci Publ 1987;82:1-406.
18. NHS Newborn Screening Programme Centre. Consultation on the standards on offer, uptake and coverage of newborn blood spot screening, 2011. http://newbornbloodspot.screening.nhs.uk/standardsconsultation (accessed 10 Dec 2011).
19. Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958;53:457-81.
20. Gleeson HK, Wiley V, Wilcken B, et al. Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. J Paediatr Child Health 2008;44:554-9.
21. Brosnan PG, Brosnan CA, Kemp SF, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med 1999;153:1272-8.
22. Moser K, Stanfield KM., Leon DA. Birthweight and gestational age by ethnic group, England and Wales 2005: introducing new data on births. Health Stat Q 2008;22-31:4-55.
23. Murtaza L, Sibert JR, Hughes I, et al. Congenital adrenal hyperplasia - a clinical and genetic survey. Are we detecting male salt-losers? Arch Dis Child 1980;55:622-5. (Pubitemid 10059448)
24. Nordenström A, Ahmed S, Jones J, et al. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res 2005;63:22-8.
25. Virdi NK, Rayner PH, Rudd BT, et al. Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Arch Dis Child 1987;62:659-62. (Pubitemid 17096151)
26. Knowles RL, Smith A, Lynn R, et al. Using multiple sources to improve and measure case ascertainment in surveillance studies: 20 years of the British Paediatric Surveillance Unit. J Public Health (Oxf) 2006;28:157-65. (Pubitemid 43966737)
27. Swerdlow AJ, Higgins CD, Brook CG, et al. Mortality in patients with congenital adrenal hyperplasia: a cohort study. J Pediatr 1998;133:516-20. (Pubitemid 28465378)
28. Yoo BK, Grosse SD. The cost effectiveness of screening newborns for congenital adrenal hyperplasia. Public Health Genomics 2009;12:67-72.
29. Van der Kamp HJ, Noordam K, Elvers B, et al. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001;108:1320-4. (Pubitemid 33121474)
30. Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-74.
31. Therrell BL Jr, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998;101:583-90. (Pubitemid 28180138)
32. Schwarz E, Liu A, Randall H, et al. Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res 2009;66:230-5.
33. Sólyom J, Hughes IA. Value of selective screening for congenital adrenal hyperplasia in Hungary. Arch Dis Child 1989;64:338-42. (Pubitemid 19083426)
34. van der Kamp HJ, Oudshoorn CG, Elvers BH, et al. Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. J Clin Endocrinol Metab 2005;90:3904-7. (Pubitemid 41058149)
35. Kwon C, Farrell PM. The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med 2000;154:714-18. (Pubitemid 30437554)
36. De Jesús VR, Simms DA, Schiffer J, et al. Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening. Clin Chim Acta 2010;411:1684-7.
37. Matern D, Tortorelli S, Oglesbee D, et al. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007;30:585-92. (Pubitemid 47377054)
38. Lacey JM, Minutti CZ, Magera MJ, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004;50:621-5. (Pubitemid 38297314)
39. Janzen N, Sander S, Terhardt M, et al. Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography-tandem mass spectrometry. Steroids 2011;76:1437-42.
40. Knowles RL, Khalid JM, Oerton J, et al. Clinical presentation of older children with congenital adrenal hyperplasia: an important outcome for newborn screening policy (abstract). Arch Dis Child 2010;95:A6-A7.