Current situation of neonatal screening for congenital hypothyroidism: Criticisms and perspectives;Situação atual da triagem neonatal para hipotireoidismo congênito: Críticas e perspectivas

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 55, Issue 8, 2011, Pages 528-533

  Nascimento, Marilza Leal ^a  

^a FEDERAL UNIVERSITY OF SANTA CATARINA   (Brazil)

Author keywords

Congenital hypothyroidism; Neonatal screening

Indexed keywords

EID: 84855466283     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302011000800005     Document Type: Review

References (46)

1. Lafranch S. Treatment and prognosis of congenital hypothyroi-dism. Disponível em: http://www.uptodate.com/contents/treatment-and-prognosis-of-congenital-hypothyroidism. Acesso em: 9 maio 2011.
2. Bevenides AM, Lima CH, Rocha CA, Corrêa AR, El Husny AS, Fernandes-Caldato MC. Perfl epidemiológico de portadores de hipotireoidismo congênito. Rev Para Med. 2006;20(3):23-6.
3. Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab. 2001;86(5):2009-14.
4. Rovet J. Congenital hypothyroidism: treatment and outcome. Curr Opin Endocrinol Diabetes. 2005;12(1):42-52.
5. Nascimento ML, Pires MMS, Nassar SM, Ruhland L. Avaliação do programa de rastreamento neonatal para hipotireoidismo con-gênito da Secretaria de Estado da Saúde de Santa Catarina. Arq Bras Endocrinol Metab. 2003;47(1):75-81.
6. American Academy of Pediatrics, Rose SR; Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117:2290-303.
7. Hanukoglu A, Perlman K, Shamis I, Brnjac L, Rovet J, Daneman D. Relationship of etiology to treatment in congenital hypothyroi-dism. J Clin Endocrinol Metab. 2001;86(1):186-91.
8. Ramalho RJR, Valido D P, Oliveira MH. Avaliação do programa de triagem para o hipotireoidismo congênito no estado de Sergipe. Arq Bras Endocrinol Metab. 2000;44(2):157-61.
9. Kempers MJ, Lanting CI, van Heijst A F, van Trotsenburg AS, Wie-dijk BM, de Vijlder JJ, et al. Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine--binding globulin measurement: potentials and pitfalls. J Clin En-docrinol Metab. 2006;91(9):3370-6.
10. Kempers MJ, van der Sluijs-Veer L, van der Nijhuis-Sanden RW, Lanting CI, Kooistra L, Wiedijk BM, et al. Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age. J Clin Endocrinol Metab. 2007;92(3):919-24.
11. Grüters A, Krude H. Update on the management of congenital hypothyroidism. Horm Res. 2007;68(Suppl 5):107-11.
12. LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid. 1999;9(7):735-40.
13. Nascimento ML, Silva PC, Simoni G, Lobo GS, Souza CD. Congenital hypothyroidism screening program: preliminary results. J Pediatr (Rio J). 1997;73(3):176-9.
14. Song SI, Daneman D, Rovet J. The infuence of etiology and treatment factors on intellectual outcome in congenital hypothyroi-dism. J Dev Behav Pediatr. 2001;22(6):376-84.
15. Maciel LM. Hipotireoidismo congênito. In: Socidade Brasileira de Endocrinologia. Projeto Diretrizes 2005;4(18):1-10. Disponível em: Acesso em: 23 ago 2011.
16. Maciel LM, Castro AS, Kimura E T, et al. Hipotireoidismo congênito 2010;4(18):1-13. Disponível em: . Aces-so em: 23 ago 2011.
17. Olney RS, Grosse SD, Vogt RF. Prevalence of congenital hypo-thyroidism--current trends and future directions: workshop summary. Pediatrics. 2010;125(Suppl 2):S31-6.
18. Fisher DA, Klein AH. Thyroid development and disorders of thyroid function in the newborn. N Engl J Med. 1981;304:702-12.
19. Klein RZ, Mitchell ML. Hypothyroidism in infants and children. In: Braverman LE, Utiger RD, editors. Werner and Ingbar's the Thyroid. 7th ed. Philadelphia: Lippincott-Raven Publishers; 1996. p. 984-90.
20. Fisher DA. Disorders of the thyroid in the newborn and infant. In: Sperling MA. Pediatric Endocrinology. Philadelphia: W.B. Saun-ders; 1996. p. 51-70.
21. LaFranchi S. Congenital hypothyroidism: a newborn screening success story? The Endocrinologist. 1994;331:1072-8.
22. Fisher DA. Management of congenital hypothyroidism. J Clin En-docrinol Metab. 1991;72:523-9.
23. Brasil. Ministério da Saúde. Secretaria de Atenção à Saúde. De-partamento de Atenção Especializada do Programa Nacional de Triagem Neonatal: ofcinas regionais de qualifcação da gestão. Brasília: Editora do Ministério da Saúde; 2006.
24. Toublanc JE. Guidelines for neonatal screening programs for congenital hypothyroidism. Acta Paediatr. 1999;88(Suppl 432):13-4.
25. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Horm Research. 1999;52:49-52.
26. Nascimento ML. Hipotireoidismo congênito em Santa Catarina. In: Medeiros-Neto G, Knobel M, editors. Hipotireoidismo congê-nito no Brasil - Desafos à busca de soluções. São Paulo: Conect-farma Publicações Científcas Ltda.; 2008. p. 67-70.
27. Korada SM, Pearce M, Ward Platt M P, Avis E, Turner S, Wastell H, et al. Diffculties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold. [Internet]. Arch Dis Child. 2010;95(3):169-73. Disponível em: http://www.ncbi.nlm.nih. gov/pubmed/19679574. Acesso em: 6 set. 2010.
28. Maciel LMZ. Diagnóstico: novos valores de corte? In: Neto-Me-deiros G, Knobel M, editors. Hipotireoidismo congênito no Brasil - Desafos à busca de soluções. São Paulo: Conectfarma Publica-ções Científcas Ltda.; 2008. p. 81-5.
29. Lott JA, Sardovia-Iyer M, Speakman KS, Lee KK. Age-dependent cutoff values in screening newborns for hypothyroidism. Clin Biochem. 2004;37:791-7.
30. Gruñeiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergadá C. Usefulness of thyroxine and free thyroxine flter paper measurements in neonatal screening for congenital hypothyroi-dism of preterm babies. J Med Screen. 2000;7:78-81.
31. Hyman SJ, Greig F, Holzman I, Patel A, Wallach E, Rapaport R. Late rise of thyroid stimulating hormone in ill newborns. J Pediatr Endocrinol Metab. 2007;20:501-10.
32. Kaye CI; Committee on Genetics. Introduction to the newborn screening factsheets. Pediatrics. 2006;118:1304-12.
33. LaFranchi S. Congenital hypothyroidism: a newborn screening success story? The Endocrinologist. 1994;331:1072-8.
34. Brook CGD. The consequences of congenital hypothyroidism. Clin Endocrinol. 1995;42:431-2.
35. Simpson N, Randall R, Lenton S, Walker S. Audit of neonatal screening programme for phenylketonuria and congenital hypo-thyroidismo. Arch Dis Child Fetal Neonatal Ed. 1997;77:228-34.
36. 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.
37. Fisher DA. The importance of early management in optimizing IQ in infants with congenital hypothyroidism. J Peditr. 2000;136:273-4.
38. Bongers-Schokking JJ, Koot HM, Wiersma D, Verkerk PH, de Muinck Keizer-Schrama SM. Infuence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr. 2000; 136:292.
39. Bongers-Schokking JJ, Muinck Keizer-Schrama SM. Infuence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. J Pediatr. 2005;147:768.
40. Salerno M, Di Maio S, Militerni R, Argenziano A, Valerio G, Tenore A. Prognostic factors in intelectual development at 7 years of age in children with congenital hypothyroidism. J Endocrinol Invest. 1995;18:774-9.
41. Rovet J F, Ehrlich R. Long-term effects of L-thyroxine therapy for congenital hypothyroidism. J Pediatr. 1995;126:380-6.
42. Hrytsiuk I, Gilbert R, Logan S, Pindoria S, Brook CG. Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review. Arch Pediatr Adolesc Med. 2002;156:485-91.
43. Gruters A, Jenner A, Krude H. Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract Res Clin Endocrinol Metab. 2002;16(2):369-82.
44. Fisher DA. Effectiveness of newborn screening programs for congenital hypothyroidism. Prevalence of missed cases. Pediatr Clin North Am. 1987;34:881-90.
45. Borrajo GJ. Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis. 2007;30(4):466-81.
46. BRASIL. Ministério da Saúde. Coordenação Geral de Média e Alta Complexidade. Indicadores do PNTN 2009: Relatórios anu-ais enviados pelas Secretarias de Saúde dos Estados e Distrito Federal. Disponível em: