Hereditary Goiter with Thyroglobulin Deficiency

  • Gilbert Vassart


Among the various causes responsible for the development of neonatal hypothyroidism, congenital goiters secondary to a genetic defect in the mechanisms of thyroid hormone synthesis represent a minority of the cases. Only a relatively small subset of these involves anomaly (either quantitative or qualitative) in thyroglobulin gene expression. Despite their scarcity, Tg gene defects represent particularly interesting situations to study, as the identification of their mutations is expected to tell us a lot on the normal structure-function relationship at the Tg locus. It is outside the scope of this presentation to review and analyze the studies of all cases found in the literature. Excellent and comprehensive reviews have been published recently on the subject (1,2). During the last few years, considerable progress has been made in our knowledge of Tg, both as a protein and as a genetic locus (for a review see 3 and ref. therein). This was mainly accomplished by the application to Tg study of the methods derived from the recombinant DNA technology. In this paper, the problem of defective expression of the Tg gene will be analyzed in the light of recent data on Tg gene structure. Emphasis will be put on the methods and probes presently available which will permit future analysis of human cases in molecular terms.


Human Case Thyroid Hormone Synthesis Neonatal Hypothyroidism Congenital Goiter Method Southern Blotting 
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Copyright information

© Springer Science+Business Media New York 1986

Authors and Affiliations

  • Gilbert Vassart
    • 1
  1. 1.Institut de Recherche Interdisciplinaire and Service de Chimie CliniqueUniversite Libre de Bruxelles BrusselsBelgium

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