Congenital hypothyroidism: Recommendations of the thyroid department of the Brazilian Society of Endocrinology and Metabolism;Hipotireoidismo congênito: Recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 57, Issue 3, 2013, Pages 184-192

  Zanini Maciel, Léa Maria ^a   Teruko Kimura, Edna ^a   Regina Nogueira, Célia ^b   Silva Mazeto, Glaucia Maria F ^b   Ribeiro Magalhães, Patrícia Künzle ^a   Leal Nascimento, Marilza ^c   Nesi França, Suzana ^d   Vieira, Sandra E ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^c FEDERAL UNIVERSITY OF SANTA CATARINA   (Brazil)

^d FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

Congenital hypothyroidism; Neonatal screening

Indexed keywords

THYROTROPIN; THYROXINE;

ARTICLE; BLOOD; BRAZIL; CHILD; CONGENITAL HYPOTHYROIDISM; CONSENSUS DEVELOPMENT; EVIDENCE BASED MEDICINE; HEALTH CARE QUALITY; HUMAN; NEWBORN; NEWBORN SCREENING; PRACTICE GUIDELINE; REFERENCE VALUE; STANDARD; THYROID DYSGENESIS; THYROID FUNCTION TEST;

BRAZIL; CHILD; CONGENITAL HYPOTHYROIDISM; EVIDENCE-BASED MEDICINE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; QUALITY ASSURANCE, HEALTH CARE; REFERENCE VALUES; THYROID DYSGENESIS; THYROID FUNCTION TESTS; THYROTROPIN; THYROXINE;

EID: 84878066701     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302013000300004     Document Type: Article

References (51)

1. Waller DK, Anderson JL, Lorey F, Cunningham GC. Risk factors for congenital hypothyroidism: an investigation of infant's birth weight, ethnicity, and gender in California, 1990-1998. Teratology. 2000;62(1):36-41.
2. Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, et al. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf). 2009;71(5):739-45.
3. Ramos HE, Nesi-França S, Maciel RM. New aspects of genetics and molecular mechanisms on thyroid morphogenesis for the understanding of thyroid dysgenesia. Arq Bras Endocrinol Metabol. 2008;52(9):1403-15.
4. Magalhães PK, Turcato M de F, Angulo Ide L, Maciel LM. Neonatal screening program at the university hospital of the Ribeirão Preto School of Medicine, São Paulo University, Brazil. Cad Saude Publica. 2009;25(2):445-54.
5. Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab. 2007;91(3):268-77.
6. Shapira SK, Lloyd-Puryear MA, Boyle C. Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States. Pediatrics. 2010;125 Suppl 2:S64-8.
7. Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, et al. The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. Pediatrics. 2010;125 Suppl 2:S54-63.
8. Olney RS, Grosse SD, Vogt RF Jr. Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary. Pediatrics. 2010;125 Suppl 2:S31-6.
9. Hertzberg V, Mei J, Therrell BL. Effect of laboratory practices on the incidence rate of congenital hypothyroidism. Pediatrics. 2010;125 Suppl 2:S48-53.
10. Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet. 1997;71(1):29-32.
11. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005;42(5):379-89.
12. Al Taji E, Biebermann H, Límanová Z, Hníková O, Zikmund J, Dame C, et al. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol. 2007;156(5):521-9.
13. Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, Boelaert K, et al. Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin Endocrinol (Oxf). 2012 Dec 13. doi: 10.1111/cen.12127. [Epub ahead of print].
14. Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004;364(9443):1435-7.
15. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993;14(3):348-99.
16. Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, et al. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab. 2002;87(6):2549-55.
17. Hanna CE, Krainz PL, Skeels MR, Miyahira RS, Sesser DE, LaFranchi SH. Detection of congenital hypopituitary hypothyroidism: tenyear experience in the Northwest Regional Screening Program. J Pediatr. 1986;109(6):959-64.
18. Persani L. Clinical review: central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. J Clin Endocrinol Metab. 2012;97(9):3068-78.
19. Korzeniewski SJ, Grigorescu V, Kleyn M, Young WI, Birbeck G, Todem D, et al. Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. J Pediatr. 2013;162(1):177-82.
20. Alm J, Hagenfeldt L, Larsson A, Lundberg K. Incidence of congenital hypothyroidism: retrospective study of neonatal laboratory screening versus clinical symptoms as indicators leading to diagnosis. Br Med J (Clin Res Ed). 1984;289(6453):1171-5.
21. Vulsma T, Gons MH, de Vijlder JJ. Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. N Engl J Med. 1989;321(1):13-6.
22. LaFranchi SH, Murphey WH, Foley TP Jr, Larsen PR, Buist NR. Neonatal hypothyroidism detected by the Northwest Regional Screening Program. Pediatrics. 1979;63(2):180-91.
23. Ramos JC, Lacerda Filho Ld, DeMartini Ade A, Silveira RB, Pereira RM, Sandrini Neto R, et al. Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil. Arq Bras Endocrinol Metabol. 2012;56(3):201-8.
24. Grant DB, Smith I, Fuggle PW, Tokar S, Chapple J. Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. Arch Dis Child. 1992;67(1):87-90.
25. Nascimento ML, Rabello FH, Ohira M, Simoni G, Cechinel E, Linhares RM, da Silva PC. [Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit]. Arq Bras Endocrinol Metabol. 2012;56(9):627-32.
26. Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al.; Study Group for Congenital Hypothyroidism. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab. 2002;87(2):557-62.
27. Kumar J, Gordillo R, Kaskel FJ, Druschel CM, Woroniecki RP. Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. J Pediatr. 2009;154(2):263-6.
28. Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002;11(17):2051-9.
29. Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004;145(2):190-3.
30. Pharoah PO, Buttfield IH, Hetzel BS. Neurological damage to the fetus resulting from severe iodine deficiency during pregnancy. Lancet. 1971;1(7694):308-10.
31. Léger J, Ecosse E, Roussey M, Lanoë JL, Larroque B; French Congenital Hypothyroidism Study Group. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. J Clin Endocrinol Metab. 2011;96(6):1771-82.
32. Azar-Kolakez A, Ecosse E, Dos Santos S, Léger J. All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. J Clin Endocrinol Metab. 2013;98(2):785-93.
33. 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(3):292-7.
34. Pharoah PO, Madden MP. Audit of screening for congenital hypothyroidism. Arch Dis Child. 1992;67(9):1073-6.
35. Kwon C, Farrell PM. The magnitude and challenge of falsepositive newborn screening test results. Arch Pediatr Adolesc Med. 2000;154(7):714-8.
36. 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, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117(6):2290-303.
37. Kaye CI; Committee on Genetics, Accurso F, La Franchi S, Lane PA, Northrup H, et al. Introduction to the newborn screening fact sheets. Pediatrics. 2006;118(3):1304-12.
38. Korzeniewski SJ, Grigorescu V, Kleyn M, Young W, Birbeck GL, Todem D, et al. Performance metrics after changes in screening protocol for congenital hypothyroidism. Pediatrics. 2012;130(5):e1252-60.
39. Tylek-Lemańska D, Kumorowicz-Kopiec M, Starzyk J. Screening for congenital hypothyroidism: the value of retesting after four weeks in neonates with low and very low birth weight. J Med Screen. 2005;12(4):166-9.
40. Dussault JH, Morissette J. Higher sensitivity of primary thyrotropin in screening for congenital hypothyroidism: a myth? J Clin Endocrinol Metab. 1983;56(4):849-52.
41. Zilka LJ, Lott JA, Baker LC, Linard SM. Finding blunders in thyroid testing: experience in newborns. J Clin Lab Anal. 2008;22(4):254-6.
42. Elmlinger MW, Kühnel W, Lambrecht HG, Ranke MB. Reference intervals from birth to adulthood for serum thyroxine (T4), triiodothyronine (T3), free T3, free T4, thyroxine binding globulin (TBG) and thyrotropin (TSH). Clin Chem Lab Med. 2001;39(10):973-9.
43. LaFranchi SH. Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab. 2011;96(10):2959-67.
44. Larson C, Hermos R, Delaney A, Daley D, Mitchell M. Risk factors associated with delayed thyrotropin elevations in congenital hypothyroidism. J Pediatr. 2003;143(5):587-91.
45. Ohnishi H, Sato H, Noda H, Inomata H, Sasaki N. Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. J Clin Endocrinol Metab. 2003;88(11):5145-9.
46. Karakoc-Aydiner E, Turan S, Akpinar I, Dede F, Isguven P, Adal E, et al. Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy. Eur J Endocrinol. 2012;166(1):43-8.
47. Supakul N, Delaney LR, Siddiqui AR, Jennings SG, Eugster EA, Karmazyn B. Ultrasound for primary imaging of congenital hypothyroidism. AJR Am J Roentgenol. 2012;199(3):W360-6.
48. LaFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism? J Pediatr Endocrinol Metab. 2007;20(5):559-78.
49. Huo K, Zhang Z, Zhao D, Li H, Wang J, Wang X, et al. Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment. Endocr J. 2011;58(5):355-61.
50. 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(6):786-92.
51. Rovet J, Alvarez M. Thyroid hormone and attention in congenital hypothyroidism. J Pediatr Endocrinol Metab. 1996;9(1):63-6.