Neonatal endocrinopathies: Should we change the screening methods?

Italian Journal of Pediatrics

Volumn 31, Issue 4, 2005, Pages 209-212

  Van Vliet, G ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

17 hydroxyprogesterone; Congenital adrenal hyperplasia; Congenital hypothyroidism; Neonatal screening; Thyrotropin

Indexed keywords

GLUCURONIDE; HYDROCORTISONE; HYDROXYPROGESTERONE; THYROTROPIN; THYROXINE;

ADULTHOOD; BIRTH; BLOOD SAMPLING; BRAIN; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; DEATH; ENDOCRINE DISEASE; FETUS BLOOD; GAS CHROMATOGRAPHY; HEALTH CARE PERSONNEL; HUMAN; HYPERKALEMIA; HYPONATREMIA; INTELLIGENCE QUOTIENT; LABORATORY DIAGNOSIS; MASS SCREENING; MASS SPECTROMETRY; MEASUREMENT; MENTAL DEFICIENCY; NEWBORN SCREENING; PHENYLKETONURIA; PREMATURITY; RADIOIMMUNOASSAY; REVIEW; SCREENING; SCREENING TEST; SEX RATIO; STEROID 21 MONOOXYGENASE DEFICIENCY; UMBILICAL CORD;

EID: 30944451370     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: None     Document Type: Review

References (35)

1. Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm Res 1997;48:51-61.
2. Van Vliet G, Czernichow P. Screening for neonatal endocrinopathies: rationale, methods and results. Semin Neonatol 2004;9:75-85.
3. Van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2004;151(Suppl 3):U71-U75.
4. Van Vliet G. Hypothyroidism in infants and children. In: Braverman LE, Utiger RD, eds. The Thyroid: A Fundamental and Clinical Text. New York: Lippincott Williams & Wilkins 2005, pp. 1029-47.
5. Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. Geneva: World Health Organization 1968.
6. Dussault JH, Laberge C. Thyroxine (T4) determination by radioimmunological method in dried blood eluate: new diagnostic method of neonatal hypothyroidism? Union Med Can 1973;102:2062-4.
7. Delange F, Camus M, Winkler M, Dodion J, Ermans AM. Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism. Arch Dis Child 1977;52:89-96.
8. New England Congenital Hypothyroidism Collaborative. Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestations. Lancet 1981;2:1095-8.
9. Derksen-Lubsen G, Verkerk PH. Neuropsychologic development in early treated congenital hypothyroidism: analysis of literature data. Pediatr Res 1996;39:561-6.
10. Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. BMJ 1994;309:440-5.
11. Rovet JF. Children with congenital hypothyroidism and their siblings: do they really differ? Pediatrics 2005;115:e52-e57.
12. Oerbeck B, Sundet K, Kase BF, Heyerdahl S. Congenital hypothyroidism: no adverse effects of high dose thyroxine treatment on adult memory, attention, and behaviour. Arch Dis Child 2005;90:132-7.
13. Selva KA, Mandel SH, Rien L, Sesser D, Miyahira R, Skeels M, et al. Initial treatment dose of L-thyroxine in congenital hypothyroidism. J Pediatr 2002;141:786-92.
14. Rovet JF, Ehrlich RM, Sorbara DL. Effect of thyroid hormone level on temperament in infants with congenital hypothyroidism detected by screening of neonates. J Pediatr 1989;114:63-8.
15. Dubuis JM, Glorieux J, Richer F, Deal CL, Dussault JH, Van Vliet G. Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment. J Clin Endocrinol Metab 1996;81:222-7.
16. Bongers-Schokking JJ, Koot HM, Wiersma D, Verkerk PH, de Muinck Keizer-Schrama SM. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr 2000;136:292-7.
17. Simoneau-Roy J, Marti S, Deal C, Huot C, Robaey P, Van Vliet G. Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. J Pediatr 2004;144:797-52.
18. Vulsma T, Gons MH, de Vijlder JJ. Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect of thyroid agenesis. N Engl J Med 1989;321:13-6.
19. Bianco AC, Salvatore D, Gereben B, Berry MJ, Larsen PR. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocr Rev 2002;23:38-89.
20. Fisher DA. The importance of early management in optimizing IQ in infants with congenital hypothyroidism. J Pediatr 2000;136:273-4.
21. Dussault JH, Grenier A, Morissette J, Mitchell M. Preliminary report on filter paper TSH levels in the first 24h of life and the following days in a program screening for congenital hypothyroidism. In: Pass KA, Levy HL, eds. Early hospital discharge: impact on newborn screening. Atlanta: Council of Regional Networks for Genetics Services, Emory University School of Medicine 1995, pp. 267-269.
22. Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, et al. Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 2002;87:4072-7.
23. Vincent MA, Rodd C, Dussault JH, Van Vliet G. Very low birth weight newborns do not need repeat screening for congenital hypothyroidism. J Pediatr 2002;140:311-4.
24. Migeon CJ, Donohoue PA. Adrenal disorders. In: Kappy MS, Blizzard RM, Migeon CJ, eds. The diagnosis and treatment of endocrine disorders in childhood and adolescence. Springfield, Illinois, USA: Charles C. Thomas 1994, pp. 717-856.
25. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977;45:1003-8.
26. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 2002;87:4048-53.
27. Catellier P, Pacaud D, Van Vliet G. Acute stress markedly increases plasma 17-OH progesterone (17-OHP) in infants born at term and aged 0.5 to 7.6 months: a pitfall in the diagnosis of congenital adrenal hyperplasia (CAH). Pediatr Res 1994;35:96A.
28. Kwon C, Farrell PM. The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med 2000;154:714-8.
29. Nordenstrom A, Ahmed S, Jones J, Coleman M, Price DA, Clayton PE, et al. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res 2005;63:22-8.
30. Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001;108:1320-4.
31. Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C. Primary Adrenal Insufficiency in Children: 20 Years Experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab 2005;90:3243-50.
32. Brosnan PG, Brosnan CA, Kemp SF, Domek DB, Jelley DH, Blackett PR, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med 1999;153:1272-8.
33. Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T. High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. J Clin Endocrinol Metab 2002;87:4106-10.
34. Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004;89:3687-93.
35. Speiser PW. Improving neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004;89:3685-6.