Clinical context of the thyroid gland development and its disorders in the fetus and newborn (part 2)
Authors:
D. Neumann 1; K. Krylová 1; E. Al Taji 2; Z. Límanová 3; P. Dejmek 2; J. Horáček 4
Authors‘ workplace:
Dětská klinika LF UK a Fakultní nemocnice, Hradec Králové
přednosta prof. MUDr. M. Bayer, CSc.
1; Klinika dětí dorostu UK 3. LF a Fakultní nemocnice Královské Vinohrady, Praha
přednosta doc. MUDr. F. Votava, CSc.
2; III. interní klinika UK 1. LF a Všeobecné fakultní nemocnice, Praha
přednosta prof. MUDr. Š. Svačina, DrSc.
3; IV. interní klinika LF UK a Fakultní nemocnice, Hradec Králové
přednosta doc. MUDr. P. Žák, Ph. D.
4
Published in:
Čes-slov Pediat 2013; 68 (5): 331-341.
Category:
Review
Overview
This survey article connects physiology of anatomical and functional development of thyroid gland (including genetic influence during thyroid morphogenesis and hormonogenesis) with newborn care. Disorders of thyroid development and function may lead to congenital hypothyroidism, which, unless treated in due time, causes irreversible impairment of child´s development, especially in the area of neurocognitive functions. A functioning newborn screening programme can prevent mental and other impairments by early diagnosing hormone levels and enabling a timely start of an appropriate term newborn treatment with L-thyroxine. Mild forms of thyroid dysgenesis and dyshormonogenesis which can be functionally asymptomatic at birth may not show during newborn screening. Later on, they develop into non-immune based hypothyroidism or they can occur in families with congenital hypothyroidism. In case of newborn hyperthyrotropinemia, management strategy should be based on TSH levels during week 2 after delivery. Therapy guidelines for transient hypothyroxinemia of prematurity are still being discussed. Triiodothyronine substitution is recommended in newborns with a prolonged course of a severe disease and if the sick euthyroid syndrome is proved. If the therapy is not indicated, children should be included in a long-term follow-up programme.
Key words:
newborn, thyroid hormones, congenital hypothyroidism, dysgenesis, dyshormonogenesis, genes, hypothyroxinemia of prematurity, newborn hyperthyreotropinemia
Sources
1. Krylová K, Neumann D, Al Taji E, et al. Vliv jodového stavu a mateřských tyreopatií na vývoj štítné žlázy a jeho poruchy u plodu a novorozence. Čes-slov Pediat 2013; 68 (4): 260–265.
2. Bursell JDH, Warner JT. Interpretation of thyroid function in chidren. Ped Child Health 2007; 17: 361–366.
3. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004; 25: 722–746.
4. Deladoëy J, Ruel J, Giguère Y, Van Vliet G. Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab 2011; 96: 2422–2429.
5. Brown RS, Shalhoub V, Coulter S, et al. Developmental regulation of thyrotropin receptor gene expression in the fetal and neonatal rat thyroid: relation to thyroid morphology and to thyroid-specific gene expression. Endocrinology 2000; 141: 340–345.
6. Ogilvy-Stuart A, Midgley P. Practical Neonatal Endocrinology. Cambridge: Cambridge University Press, 2006: 1–218. ISBN 978-0-521-83849-8.
7. Raine JE, Donaldson MDC, Gregory JW, et al. Practical Endocrinology and Diabetes in Children. John Wiley & Sons, 2006: 1–256. ISBN-13: 978-1-4051-2233-7. ISBN-10: 1-4051-2233-1.
8. Mutlu M, Karagüzel G, Aliyazicioglu Y, et al. Reference intervals for thyrotropin and thyroid hormones and ultrasonographic thyroid volume during neonatal period. J Mat Fet Neonat Med 2012; 25 (2): 120–124.
9. Freire C, Ramos R, Amaya E, et al. Newborn TSH concentration and its association with cognitive development in healthy boys. Eur J Endocrinol 2010; 163: 901–909.
10. Abduljabbar M, Al Shahri A, Afifi A. Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypotyhroidism? J Med Screen 2009; 16: 119–123.
11. Turan S, Bereket A, Angaji M, et al. The effect of the mode of delivery on neonatal thyroid function. J Matern-Fetal Neonatal Med 2007; 20: 473–476.
12. Djemli A, van Vliet G, Delvin EE. Congenital hypothyroidism: from Paracelsus to molecular diagnosis. Clin Biochem 2006; 36: 511–518.
13. Al Taji E, Biebermann H, Limanova Z, 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: 521–529.
14. Park SM, Chatterjee VKK. Genetics of congenital hypothyroidism. J Med Genet 2005; 42: 379–389.
15. Léger J, Marinovic D, Garel C, et al. Thyroid develop-mental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002; 87: 575–580.
16. Moreno JC, Klootwijk W, van Toor H, et al. Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med 2008; 358: 1811–1818.
17. Pohlenz J, Madeiros-Neto G, Gross JL, et al. Hypothyroidism in a brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Comm 1997; 240: 488–491.
18. Niu HM, Lin CY, Hwang B, et al. Contribution of genetic factors to neonatal transient hypothyroidism. Arch Dis Child Fetal Neonatal Ed 2005; 90: F69–F72.
19. Jeziorowska A, Pniewska-Siark B, Brzeziańska E, et al. A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. Thyroid 2006; 16: 1303–1309.
20. AAP, ATA. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006; 117: 2290–2303.
21. Gaudino R, Garel C, Czernichow P, Léger J. Proportions of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol 2005; 62: 444–448.
22. Reynolds BC, Simpson JH, Macara L, et al. Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: Implications for management. Acta Paediatrica 2006; 95: 1345–1348.
23. Banghova K, Al Taji E, Cinek O, et al. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. Eur J Pediatr 2008; 167: 777–783.
24. Nebesio TD, McKenna MP, Michael P, et al. Newborn screening results in children with central hypothyroidism. J Pediatr 2010; 156: 990–993.
25. McGovan S, Jones JH, Brown A, et al. Capillary TSH screening programme for Down’s syndrome in Scotland, 1997–2009. Arch Dis Child 2011; 96: 1113–1117.
26. O’Grady MJ, Cody D. Subclinical hypothyroidism in childhood. Arch Dis Child 2011; 96: 280–284.
27. Medeiros-Neto G, Gil-Da-Costa MJ, Santos CLS, et al. Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene. J Clin Endocrinol Metab 1998; 83: 4162–4166.
28. Wit JM, Ranke MB, Kelnar CJH (eds). ESPE classification of paediatric endocrine diagnosis. 7. Thyroid disorders. Horm Res 2007; 68 (Suppl 2): 44–47.
29. Zung A, Tenenbaum-Rakover Y, Barkan S, et al. Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy. Clin Endocrinol 2010; 72: 264–271.
30. Parks JS, Lin M, Grosse SD, et al. The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. Pediatrics 2010; 125: S54–S63.
31. Niwa F, Kawai M, Kanazawa H, et al. Hyperthyrotropinemia at 2 weeks of age indicates thyroid dysfunction and predicts the occurrence of delayed elevation of thyrotropin in very low birth weight infants. Clin Endocrinol 2012; 77: 255–261.
32. Bhatia V. Congenital hypothyroidism is not always permanent: caveats to newborn thyroid screen interpretation. Ind Pediatr 2010; 17: 753–754.
33. Li M, Eastman CJ. Neonatal TSH screening: is it a sensitive and reliable tool for monitoring iodine status in populations? Best Pract Res Clin Endocrinol Metab 2010; 24: 63–75.
34. Kempers MJE, Lanting CI, van Heijst AFJ, et al. Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. J Clin Endocrinol Metab 2006; 91: 3370–3376.
35. Sperling MA. Pediatric Endocrinology. 2nd ed. Saunders, 2002: 1–816. ISBN 0-7216-9539-6.
36. Metodický návod k zajištění celoplošného novorozeneckého laboratorního screeningu a následné péče. Věstník Ministerstva zdravotnictví České republiky 2009; částka 6: 7–14.
37. Weber G, Vigone MC, Rapa A, et al. Neonatal transient hypothyroidism: aetiological study. Arch Dis Child Fetal Neonat Ed 1998; 79: F70–72.
38. Rovelli R, Vigone MC, Giovanettoni C, et al. Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the first months of life. Ital J Pediatr 2010; 36: 24–29.
39. Hnikova O, Kracmar P, Zelenka Z, et al. Screening of congenital hypothyroidism in newborns in Bohemia and Moravia. Endocrinol Exp 1989; 23: 117–123.
40. Votava F, Strnadová K. Novorozenecký screening v České republice a v Evropě. Čes-slov Pediat 2008; 63: 96–105.
41. Jones JJ, Attaie M, Maroo S, et al. Heterogeneous tissue in the thyroid fossa on ultrasound in infants with proven thyroid ectopia on isotope scan – a diagnostic trap. Pediatr Radiol 2010; 40: 725–731.
42. Ahuja AT, King AD, King W, Metreweli C. Thyroglossal duct cysts: sonographic appearances in adults. Am J Neuroradiol 1999; 20: 579–582.
43. Donaldson MCD, Jones JH, Brown A (SPEG group). Guideline for the management of congenital hypothyroidism in Scotland Review 05/10/2012, 16 s. http://www.clinicalguidelines.scot.nhs.uk.
44. Fisher DA. The importance of early management in optimizing IQ in infants with congenital hypothyroidism. J Pediatr 2000; 136: 273–274.
45. APEG Guidelines for Management of Congenital Hypothyroidism. 8 s. http://www.apeg.org.au.
46. Haymart MR, Repplinger DJ, Leverson GE, et al. Higher serum thyroid stimulating hormone level in thyroid nodule patients is associated with greater risk of differentiated thyroid cancer and advanced tumor stage. J Clin Endocrinol Metab 2008; 93: 809–814.
47. Hishinuma A, Fukata S, Kakudo K, et al. High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 2005; 15: 1079–1084.
48. Desphande AH, Bobhate SK. Cytological features of dyshormonogenetic goitre: case report and review of the literature. Diagn Cytopathol 2005; 33: 252–254.
49. Altay C, Erdogan N, Karasu S, et al. CT and MRI findings of developmental abnormalities and ectopia varieties of the thyroid gland. Diagn Interv Radiol 2012; 18: 335–343.
50. Biswas S, Buffery J, Enoch H, et al. A longitudinal assessment of thyroid hormone concentrations in preterm infants younger than 30 weeks gestation during the first two weeks of life. Pediatrics 2002; 109: 222–227.
51. Dilli D, Eras Z, Andiran N, et al. Neurodevelopmental evaluation of very low birth weight infants with transient hypothyroxinemia at corrected age of 18–24 months. Indian Pediatr 2012, pii: S097475591100706-1.
52. Delahunty C, Falconer S, Hume R, et al. Levels of neonatal thyroid hormone in preterm infants and neurodevelopmental outcome at 5 ½ years: millenium cohort study. J Clin Endocrinol Metab 2010; 95: 4898–4908.
53. Ares S, Quero J, Diez J, Morreale de Escobar G. Neurodevelopment of preterm infants born at 28 to 36 weeks of gestation age: the role of hypothyroxinemia and long-term outcome at 4 years. J Pediatr Endocrinol Metab 2011; 24: 897–902.
54. Suzumura H, Nitta A, Tsuboi Y, et al. Thyroxine for transient hypothyroxinemia and cerebral palsy in extremely preterm infants. Pediatr Int 2011; 53: 463–467.
55. La Gamma EF, Paneth N. Clinical importance of hypothyroxinemia in the preterm infant and a discussion of treatment concerns. Curr Opin Pediatr 2012; 24: 172–180.
56. Belfort MB, Pearce EN, Braveman LE, He X, Brown RS. Low iodine content in the diets of hospitalized preterm infants. J Clin Endocrinol Metab 2012; 97: 632–636.
57. Zimmermann MB. Iodine: it´s important in patients that require parenteral nutrition. Gastroenterology 2009; 137: 36–46.
58. Paul DA, Mackley A, Yencha EM. Thyroid function in term and late preterm infants with respiratory distress and relation to severity of illness. Thyroid 2010; 20: 189–194.
59. Goissen C, Fontaine C, Braun K, et al. Prospective study at 1 week of thyroid function in 97 consecutive preterm newborns under 32 weeks of gestation. Arch Pediatr 2011; 18: 253–260.
60. Chan S, Kilby MD. Thyroid hormone and central nervous system development. J Endocrinol 2000; 16: 1–8.
61. Golombek SG. Nonthyroidal illness syndrome and euthyroid sick syndrome in intensive care patiens. Semin Perinatol 2008; 32: 413–418.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2013 Issue 5
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