Congenital Hypothyroidism: New Insight Regarding Etiology

  • Jean H. Dussault
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 299)


The etiology of congenital hypothyroidism is unknown in most cases although there is a greater incidence of thyroid disease in families of infants with sporadic cretinism (1). The occurrence of thyroid dysgenesis in more than one member of a family has not helped to resolve the genetic factors involved. In Japan an association with HLA type AW24 has been reported whereas in North America and Europe such an association has not been confirmed (2,3). On the other hand, Shepard reported an increased incidence of non-tasters of phenylthiocarbamide in families of a member with sporadic hypothyroidism (4). Since the ability to taste Phenylthiocarbamide is a recessive inherited trait and since there is a lower incidence of non-tasters among blacks, a lower incidence of the disease was expected in the black population, a fact that was confirmed in North America (5).


Congenital Hypothyroidism Autoimmune Thyroiditis Thyroid Antibody Normal Pregnant Woman Antithyroid Antibody 
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Copyright information

© Plenum Press, New York 1991

Authors and Affiliations

  • Jean H. Dussault
    • 1
    • 2
  1. 1.Screening Program for Congenital HypothyroidismThe Quebec Network for Genetic MedicineCanada
  2. 2.Ontogenesis and Molecular Genetic UnitCHUL Laval UniversityCanada

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