Significance of Early Diagnostic Data in Congenital Hypothyroidism: Report of the Subcommittee on Neonatal Hypothyroidism of the European Thyroid Association

  • F. Delange
  • J. De Vijlder
  • G. Morreale de Escobar
  • P. Rochiccioli
  • S. Varrone
Part of the NATO ASI Series book series (NSSA, volume 161)


The objective of this work has been to evaluate the natural history of thyroid dysgenesis during early life in order to explain why infants with congenital hypothyroidism and with similarly low serum T4 at diagnosis frequently have markedly different clinical signs of hypothyroidism. Standardized data were collected in an international collaborative study from 181 infants (132 females and 49 males) with congenital hypothyroidism detected by neonatal screening and in whom thyroid scanning performed before therapy allowed a precise etiological diagnosis i.e. thyroid agenesis, ectopic thyroid or dyshormonogenesis. In thyroid agenesis, serum thyroxine (T4) at screening was low but not necessarily undetectable and rapidly decreased thereafter. In ectopic thyroids, serum T4 decreased by 40% between screening and diagnosis in approximately one third of the infants. Serum thyroglobulin (Tg) was not necessarily undetectable in thyroid agenesis nor detectable in ectopic thyroids. There was only a poor relationship between serum T4 and bone maturation at diagnosis in congenital hypothyroidism. The data suggest that loss of functional capacity of the dysgenesic thyroid tissue occurs during early life in some infants with congenital hypothyroidism and that serum Tg cannot replace thyroid scintigraphy in the evaluation of infants with congenital hypothyroidism.


Thyroid Tissue Congenital Hypothyroidism Neonatal Screening Serum Thyroglobulin Ectopic Thyroid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    J. Letarte, and S. La Franchi, Clinical features of congenital hypothyroidism, in: “Congenital hypothyroidism” J.H. Dussault and P. Walker eds., M. Dekker Publ., New York (1983): 351 - 383.Google Scholar
  2. 2.
    G. Morreale de Escobar, R. Pastor, M.J. Obregon and F. Escobar del Rey, Effect of maternal hypothyroidism on the weight and thyroid hormone content of rat embryonic tissues, before and after onset of fetal thyroid function. Endocrinology 117: 1890 - 1900 (1985).CrossRefGoogle Scholar
  3. 3.
    R.J. Wood, A.K. Sinha and R. Ekins, Uptake and metabolism of thyroid hormones by the rat fetus in early pregnancy. Clin. Sci. 67: 359363 (1984).Google Scholar
  4. 4.
    R. Ekins, Roles of serum thyroxine-binding proteins and maternal thyroid hormones in fetal development. Lancet i: 1129 - 1132 (1985).Google Scholar
  5. 5.
    J. Vereist, F. Delange, P. Bourdoux, Q. Vu and A.M. Ermans, Circulating thyroid hormones in thyroid dysgenesis, in: “Neonatal screening” H. Naruse and M. Trie eds., Excerpta Medica publ., Amsterdam (1983): 138 - 139.Google Scholar
  6. 6.
    A.J. Van Herle, R.P. Uller, N.L. Matthews and J. Brown, Radioimmunoassay for measurement of thyroglobulin in human serum. J. Clin. Invest. 52: 1320 - 1327 (1983).CrossRefGoogle Scholar
  7. 7.
    J. Senecal, M.C. Grosse, A. Vincent, J. Simon and J.N. Lefrèche, Maturation osseuse du foetus et du nouveau-né. Arch. Franc. Ped. 34: 424 - 438 (1977).Google Scholar
  8. 8.
    N. Neimann, M. Pierson and J. Martin, Hypothyroidies par troubles du développement et lésions inflammatoires du corps thyroide, in: “Les hypothyroidies.”Rapport 18ème Congrès de l’association des pédiatres de langue française. Genève 1961. S. Karger publ., Bâle (1961); 1: 89 - 157.Google Scholar
  9. 9.
    J.C. Job, P. Canlorbe and M. Tubiana, Decreasing radioiodine uptake during the course of congenital hypothyroidism, in: “Current topics in thyroid research” C. Cassano and A. Andreoli eds. Academic Press New York (1965): 828 - 831.Google Scholar
  10. 10.
    G. Dutau and P. Rochiccioli, Les dysgénésies thyroídiennes. A propos de 63 observations. Ann. Pediat. 22: 315 - 325 (1975).Google Scholar
  11. 11.
    M. Kaplan, R. Kauli, E. Lubin, M. Grunebaum and Z. Laron, Ectopic thyroid gland. A clinical study of 30 children and review. J. Pediatr. 92: 205 - 209 (1978).PubMedCrossRefGoogle Scholar
  12. 12.
    J. Glorieux and F.A. Lavecchio, Psychological and neurological development in congenital hypothyroidism, in: “Congenital hypothyroidism” J.H. Dussault and P. Walker eds. M. Dekker publ. New York (1983): 411 - 430.Google Scholar
  13. 13.
    J. Rovet, R. Ehrlich and D. Sorbara, Intellectual outcome in children with fetal hypothyroidism. J. Pediatr. 110: 700 - 704 (1987).PubMedCrossRefGoogle Scholar
  14. 14.
    R.D. Van der Gaag, H.A. Drexhage and J.H. Dussault, Role of maternal immunoglobulins blocking TSH-induced thyroid growth in sporadic forms of congenital hypothyroidism. Lancet i: 246 - 250 (1980).Google Scholar
  15. 15.
    J.H. Dussault and D. Bernier, 1251 uptake by FRTL5 cells: a screening test to detect pregnant women at risk of giving birth to hypothyroid infants. Lancet ii: 1029 - 1031 (1985).Google Scholar
  16. 16.
    J.L. Ket, J.J.M. De Vijlder, H. Bikker, M.H. Gons and W.H.H. Tegelaers, Serum thyroglobulin levels: the physiological decrease in infancy and the absence in athyroidism. J. Clin. Endocrinol. Metab. 58: 1301 - 1303 (1981).CrossRefGoogle Scholar
  17. 17.
    E.G. Black, S.J. Bodden, J.A. Hulse and R. Hoffenberg, Serum thyroglobulin in normal and hypothyroid neonates. Clin. Endocrinol. 16: 267 - 274 (1982).CrossRefGoogle Scholar
  18. 18.
    P. Czernichow, M. Schlumberger, R. Pomarede and P. Fragu, Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism. J. Clin. Endocrinol. Metab. 56: 242245 (1983).Google Scholar
  19. 19.
    M.H. Gons, J.H. Kok, W.H.H. Tegelaers and J.J.M. De Vijlder, Concentration of plasma thyroglobulin and urinary excretion of iodinated material in the diagnosis of thyroid disorders in congenital hypothyroidism. Acta Endocrinol. 104: 27 - 34 (1983).PubMedGoogle Scholar
  20. 20.
    F. Pacini, R. Lari, P. La Ricca, L. Grasso, F. Di Bartolo, G.F. Fenzi, M. Ciampi, S.G. Gragnani, L. Baschieri and A. Pinchera, Serum thyroglobulin determinations in the differential diagnosis of congenital hypothyroidism. J. Endocrinol. Invest. 7: 29 - 33 (1984).PubMedGoogle Scholar
  21. 21.
    F. Dammaco, A. Dammaco, T. Cavallo, S. Sansonna, N. Bafundi, C. Torelli, E. Frezza, F. Vitale and D. Griseta, Serum thyroglobulin and thyroid ultrasound studies in infants with congenital hypothyroidism. J. Pediatr. 106: 451 - 453 (1985).CrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • F. Delange
    • 1
  • J. De Vijlder
    • 2
  • G. Morreale de Escobar
    • 3
  • P. Rochiccioli
    • 4
  • S. Varrone
    • 5
  1. 1.BrusselsBelgium
  2. 2.AmsterdamNetherlands
  3. 3.MadridSpain
  4. 4.ToulouseFrance
  5. 5.NaplesItaly

Personalised recommendations