Screening for congenital hypothyroidism: The significance of threshold limit in false-negative results

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 9, 2010, Pages 4283-4290

  Mengreli, Chryssanthi ^a   Kanaka Gantenbein, Christina ^b   Girginoudis, Panagiotis ^a   Magiakou, Maria Alexandra ^b   Christakopoulou, Ioulia ^c   Giannoulia Karantana, Aglaia ^a   Chrousos, George P ^b   Dacou Voutetakis, Catherine ^b  

^a AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c SOTIRIA GENERAL HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE 123; THYROTROPIN;

ANATOMICAL VARIATION; ARTICLE; CHILD; CLINICAL EVALUATION; CONGENITAL HYPOTHYROIDISM; ECHOGRAPHY; FALSE NEGATIVE RESULT; FOLLOW UP; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEWBORN SCREENING; PREDICTOR VARIABLE; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; THYROID SCINTISCANNING; THYROTROPIN BLOOD LEVEL; BLOOD; ENDOCRINE SYSTEM EXAMINATION; EVALUATION STUDY; LABORATORY DIAGNOSIS; LIMIT OF DETECTION; NEWBORN; PROCEDURES; REFERENCE VALUE; STANDARDS;

CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; DIAGNOSTIC TECHNIQUES, ENDOCRINE; FALSE NEGATIVE REACTIONS; HUMANS; INFANT; INFANT, NEWBORN; INFANT, PREMATURE; LIMIT OF DETECTION; NEONATAL SCREENING; REFERENCE VALUES; THYROTROPIN;

EID: 77956583136     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-0057     Document Type: Article

References (35)

1. Burrow GN, Dussault JH, eds. 1980 Neonatal thyroid screening. New York: Raven Press
2. Leutwyler K 1995 The price of prevention. Sci Am 272:124-129
3. Loeber JG 2007 Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis 30:430-438
4. de Zegher F, Vanderschueren-Lodeweyckx M, Heinrichs C, Van Vliet G, Malvaux P 1992 Thyroid dyshormonogenesis: severe hypothyroidism after normal neonatal thyroid stimulating hormone screening. Acta Paediatr 81:274-276
5. Vincent MA, Rodd C, Dussault JH, Van Vliet G 2002 Very low birth weight newborns do no need repeat screening for congenital hypothyroidism. J Pediatr 140:311-314
6. Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ 2008 Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med 358:1811-1818
7. Gillis D, Brnjac L, Perlman K, Sochett EB, Daneman D 1998 Frequency and characteristics of lingual thyroid not detected by screening. J Pediatr Endocrinol Metab 11:229-233
8. Mengreli C, Kassiou K, Tsagaraki S, Pantelakis S 1981 Neonatal screening for hypothyroidism in Greece. Eur J Pediatr 137:185-187
9. 1999 Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Horm Res 52:49-52
10. Panoutsopoulos G, Mengreli C, Ilias I, Batsakis C, Christakopoulou I 2001 Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program. Eur J Nucl Med 28:529-533
11. Delange F 1997 Neonatal screening for congenital hypothyroidism. Results and perspectives. Horm Res 48:51-56
12. LaFranchi S 1999 Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid 9:735-740
13. Pino S, Fang SL, Braverman LE 1996 Ammonium persulfate: a safe alternative oxidizing reagent for measuring urinary iodine. Clin Chem 42:239-243
14. World Health Organization, United Nations Children's Fund, International Council for the Control of Iodine Deficiency Disorders (WHO/UNICEF/ICCIDD) 2007 Assessment of the iodine deficiency disorders and monitoring their elimination. A guide for programme managers. 3rd ed. Geneva: World Health Organization
15. Williams FL, Simpson J, Delahunty C, Ogston SA, Bongers-Schokking JJ, Murphy N, van Toor H, Wu SY, Visser TJ, Hume R; Collaboration from the Scottish Preterm Thyroid Group 2004 Developmental trends in cord and postpartum serum thyroid hormones in preterm infants. J Clin Endocrinol Metab 89:5314-5320
16. Mengreli C, Magiakou AM, Girginoudis P, Kanaka-Gantenbein C, Dacou-Voutetakis C 2007 Congenital hypothyroidism (CH): a significant number of false negative results when a cutoff point of 20 mU/L is applied. Horm Res 68(Suppl 1):218
17. Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G, Persani L 2009 A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism. Clin Endocrinol (Oxf) 71:739-745
18. Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 87:2549-2555
19. Moreno JC, de Vijlder JJ, Vulsma T, Ris-Stalpers C 2003 Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research. Trends Endocrinol Metab 14:318-326
20. Park SM, Chatterjee VK 2005 Genetics of congenital hypothyroidism. J Med Genet 42:379-389
21. Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G 2008 Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 93:605-610
22. Maiorana R, Carta A, Floriddia G, Leonardi D, Buscema M, Sava L, Calaciura F, Vigneri R 2003 Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function: J Clin Endocrinol Metab 88:1534-1536
23. Kuehnen P, Grueters A, Krude H 2009 Two puzzling cases of thyroid dysgenesis. Horm Res 71(Suppl 1):93-97
24. Mitchell ML, Walraven C, Rojas DA, McIntosh KF, Hermos RJ 1994 Screening very low birth weight infants for congenital hypothyroidism. Lancet 343:60-61
25. Hunter MK, Mandel SH, Sesser DE, Miyabira RS, Rien L, Skeels MR, LaFranchi SH 1998 Follow-up of newborns with low thyroxine and nonelevated thyroid-stimulating hormone-screening concentrations: results of the 20-year experience in the Northwest Regional Newborn Screening Program. J Pediatr 132:70-74
26. Mandel SJ, Hermos RJ, Larson CA, Prigozhin AB, Rojas DA, Mitchell ML 2000 Atypical hypothyroidism and the very low birth weight infant. Thyroid 10:693-695
27. Korada M, Pearce MS, Ward Platt MP, Avis E, Turner S, Wastell H, Cheetham T 2008 Repeat testing for congenital hypothyroidism in preterm infants is unnecessary with an appropriate thyroid stimulating hormone threshold. Arch Dis Child Fetal Neonatal Ed 93:F286-F288
28. Alm J, Hagenfeldt L, Larsson A, Lundberg K 1984 Incidence of congenital hypothyroidism: retrospective study of neonatal laboratory screening versus clinical symptoms as indicators leading to diagnosis. Br Med J 289:1171-1175
29. Kempers MJ, Lanting CI, van Heijst AF, van Trotsenburg AS, Wiedijk BM, de Vijlder JJ, Vulsma T 2006 Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. J Clin Endocrinol Metab 91:3370-3376
30. Olivieri A, Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, Cascino I, Cordeddu V, Sorcini M, Stazi MA; Study Group for Congenital Hypothyroidism 2007 High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab 92:3141-3147
31. Sakka SD, Malamitsi-Puchner A, Loutradis D, Chrousos GP, Kanaka-Gantenbein C 2009 Euthyroid hyperthyrotropinemia in children born after in vitro fertilization. J Clin Endocrinol Metab 94:1338-1341
32. Harris KB, Pass KA 2007 Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab 91:268-277
33. Pryce RA, Gregory JW, Warner JT, John R, Bradley D, Evans C 2007 Is the current threshold level for screening for congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales. Arch Dis child 92:1048
34. Korada SM, Pearce M, Ward Platt MP, Avis E, Turner S, Wastell H, Cheetham T 2010 Difficulties in selecting an appropriate neonatal TSH screening threshold. Arch Dis Child 95:169-173
35. Rapaport R 2000 Congenital hypothyroidism: expanding the spectrum. J Pediatr 136:10-12