Neonatal Screening for Thyroid Disease

  • Marvin L. Mitchell
Part of the Contemporary Endocrinology book series (COE, volume 2)


Mid-1970 will long be remembered for the final convulsions of the Vietnam war and the lasting effect it has had on society. Yet an equally important event of far reaching social consequence also dates to then. Few are aware that this period marked the turning point in the battle against an insidious crippler of children. The disorder, congenital hypothyroidism, was almost impossible to detect because of the absense of conspicuous clinical features at birth and in the perinatal period. Consequently, by the time the diagnosis was clinically apparent, brain damage had usually ensued leaving in its wake a mentally retarded child and a stricken family. Although treatment with levothyroxine at this juncture resulted in normal growth, intellectual development remained forever compromised.


Newborn Screening Congenital Hypothyroidism Neonatal Screening Primary Hypothyroidism Primary Marker 


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  1. 1.
    Morreale de Escobar, Escobar del Rey F. Brain damage and thyroid hormone. In: Burrow GN, Dussault JH, eds. Neonatal Thyroid Screening. Raven, New York, 1980, pp. 25–50.Google Scholar
  2. 2.
    Dussault JH, Laberge C. Dosage de la thyroxine (T,) par methode radio-immunologique dans 1 ‘eluate de sang seche: Nouvelle methode de depistage de 1 ‘hypothyroidie neonatale? Union Med Can 1973; 102: 2062–2064.PubMedGoogle Scholar
  3. 3.
    Irie M, Enomoto K, Naruse H. Measurement of thyroid-stimulating hormone in dried blood spot. Lancet 1975;ii:1233–1234.CrossRefGoogle Scholar
  4. 4.
    Larsen PR, Merker A, Parlow AF. Immunoassay of human TSH using dried blood samples. J Clin Endocrinol Metab 1976; 42: 987–990.PubMedCrossRefGoogle Scholar
  5. 5.
    New England Congenital Hypothyroidism Collaborative. Pitfalls in screening for neonatal hypothyroidism. Pediatrics 1982; 78: 16–20.Google Scholar
  6. 6.
    Mitchell ML, Potischman N, Larsen PR, Klein RZ. Atypical cases in a screening program for congenital hypothyroidism. In: Naruse H, Irie M, eds. Neonatal Screening. Excerpta Medica, New York, 1983, pp. 95–100.Google Scholar
  7. 7.
    Mitchell ML, Walraven C, Rojas DA, McIntosh KF, Hermos RJ. Screening very-low birth-weight infants for congenital hypothyroidism. Lancet 1994; 343: 60–61.PubMedCrossRefGoogle Scholar
  8. 8.
    Klein RZ, Potischman N, Phelan J, Haddow JE, Mitchell ML. The premature infant and neonatal hypothyroidism screening. In: Naruse H, Irie M, eds. Neonatal Screening. Excerpta Medica, New York, NY, 1983, pp. 9–4.Google Scholar
  9. 9.
    Van den Berghe G, de Zegher F, Lauwers. Dopamine suppress pituitary function in infants and children. Critical Care Med 1994; 22: 1747–1753.Google Scholar
  10. 10.
    Wilbur JF, Utiger RD. The effect of glucocorticoids on thyrotropin secretion. J Clin Invest 1969; 48: 2096–103.CrossRefGoogle Scholar
  11. 11.
    Rafetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967; 27: 279–294.CrossRefGoogle Scholar
  12. 12.
    Ilicki A, Larsson A, Karlsson FA. Circulating thyroid antibodies in congenital hypothyroidism. Acta Paediatr Scand 1991; 80: 805–811.PubMedCrossRefGoogle Scholar
  13. 13.
    Delange F, Bourdoux P, Ketelbant-Balasse P, Van Humskerken A, Glinoer D, Ermans AM. Transient primary hypothyroidism in the newborn. In: Dussault JH, Walker P, eds. Congenital Hypothyroidism. Marcel Dekker, New York, 1983, pp. 275–301.Google Scholar
  14. 14.
    Mitchell ML, Larsen PR. Screening for congenital hypothyroidism in New England using the T4-TSH strategy. In: Burrow GN, Dussault JH, eds. Neonatal Thyroid Screening. Raven, New York, 1980, pp. 95–105.Google Scholar
  15. 15.
    American Academy of Pediatrics. Newborn screening for congenital hypothyroidism: Recommended guidelines. Pediatrics 1993; 91: 1203–1209.Google Scholar
  16. 16.
    New England Congenital Hypothyroidism Collaborative. Correlation of cognitive test scores and adequacy of treatment in adolescents with congenital hypothyroidism. J Pediatr 1994; 124: 383–387.CrossRefGoogle Scholar
  17. 17.
    New England Congenital Hypothyroidism Collaborative. Elementary school performance of children with congenital hypothyroidism. J Pediatr 1990; 116: 27–32.CrossRefGoogle Scholar
  18. 18.
    Glorieux J, Dussault J, and Van Vliet G. Intellectual development at age 12 years of children with congenital hypothyroidism diagnosed by newborn screening. J Pediatr 1992; 121: 581–584.PubMedCrossRefGoogle Scholar
  19. 19.
    Rovet JF, Ehrlich RM, Sorbara DL. Neurodevelopment in infants and preschool children with congenital hypothyroidism. J Pediatr Psych 1992; 17: 187–213.CrossRefGoogle Scholar
  20. 20.
    The New England Congenital Hypothyroidism Collaborative. Effects of neonatal screening for hypothyroidism: Prevention of mental retardation by treatment before clinical manifestations. Lancet 1981; 2: 1095–1098.Google Scholar
  21. 21.
    Klein R. Screening for congenital hypothyroidism. Lancet 1986; 2: 403.PubMedCrossRefGoogle Scholar
  22. 22.
    Dubuis JM, Glorieux J, Richer F, Deal CL, Dussault JH, Van Vliet G. Outcome of severe congenital hypothyroidism. Closing the development gap with early high dose levothyroxine treatment. J Clin Endocrinol Metab 1996; 81: 222–227.PubMedCrossRefGoogle Scholar
  23. 23.
    Ilicki A, Larsson A. Psychomotor development of children with congenital hypothyroidism diagnosed by neonatal screening. Acta Paediatr Scand 1988; 77: 142–147.PubMedCrossRefGoogle Scholar
  24. 24.
    Toublanc JE, Rives S, Job JC. Factors relating to the intellectual development of children treated for congenital hypothyroidism. In: Delange F, Fisher DA, Glinoer D, eds. Research in Congenital Hypothyroidism. Plenum, New York, 1989, pp. 344.Google Scholar

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© Springer Science+Business Media New York 1997

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  • Marvin L. Mitchell

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