+1 Recommend
1 collections
      • Record: found
      • Abstract: found
      • Article: found

      Long-Term Follow-Up of an Infant with Thyrotoxicosis due to Germline Mutation of the TSH Receptor Gene (Met453Thr)

      Read this article at

          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.


          A 18-year clinical follow-up period in a male patient with a germline TSH-R gene mutation (Met453Thr) is described. Nonautoimmune thyrotoxicosis was diagnosed at the age of 7 months. The patient had exophthalmus, failure to thrive, advanced bone age and no goiter. Long-term antithyroid drug treatment (ATD) was necessary during childhood. At the age of 7 years he developed a goiter. Subtotal thyroidectomy was performed at the age of 9 years, followed by repeated ablative radiotherapy at the age of 9.5–13 years due to a toxic multinodular goiter. After 13 years ATD could be discontinued and the patient was euthyroid until 16 years of age, where L-thyroxine substitution had to be started. The exophthalmus diminished, and had disappeared at the age of 18 years, when CT scan of the orbit was performed. Conclusion: TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. A very agressive treatment strategy is necessary.

          Related collections

          Most cited references 1

          • Record: found
          • Abstract: not found
          • Article: not found

          Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.


            Author and article information

            Horm Res Paediatr
            Hormone Research in Paediatrics
            S. Karger AG
            January 1999
            31 March 1999
            : 51
            : 1
            : 43-46
            aDepartment of Pediatrics, Amager Hospital; bDepartment of Growth and Reproduction, Rigshospitalet; cDepartment of Pediatrics, Odense University Hospital; dDepartment of Internal Medicine I, Bispebjerg Hospital; eDepartment of Endocrinology, Rigshospitalet, Copenhagen, Denmark; fInstitut de Recherche Interdisciplinaire, Free University of Brussels, Belgium
            23312 Horm Res 1999;51:43–46
            © 1999 S. Karger AG, Basel

            Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

            Page count
            Figures: 2, References: 24, Pages: 4
            Case Report


            Comment on this article