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      • Record: found
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      Long-Term Carbimazole Treatment of Neonatal Nonautoimmune Hyperthyroidism due to a New Activating TSH Receptor Gene Mutation (Ala428Val)

      case-report

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          Abstract

          Background: Hereditary nonautoimmune hyperthyroidism is caused by activating germline mutations in the thyrotropin receptor gene. Antithyroid treatment failed to control hyperthyroidism in most cases, so that primary thyroid ablation or <sup>131</sup>I therapy is advocated as the preferred treatment of choice. Patient/Methods: We describe a case of neonatal nonautoimmune hyperthyroidism treated with carbimazole. Molecular analysis revealed a new heterozygous point mutation (A428V) in the TSH receptor (TSHR) gene. Result: Antithyroid treatment was successful in controlling hyperthyroidism for the first 5.9 years of age. Conclusion: We conclude that carbimazole therapy is effective in treating nonautoimmune hyperthyroidism. It may be an alternative to thyroidectomy or radioiodine treatment.

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          Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.

          S Refetoff, Y Hayashi, M. Gottschalk … (1995)
          Article 0 comments Cited 30 times – based on 0 reviews     Review now
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            Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

            J Orgiazzi, M Delisle, J Parma … (1994)
            The thyrotropin receptor (TSHR), a member of the large family of G protein-coupled receptors, controls both the function and growth of thyroid cells via stimulation of adenylyl cyclase. We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments. When expressed by transfection in COS-7 cells, the mutated receptors display a higher constitutive activation of adenylyl cyclase than wild type. This new disease entity is the germline counterpart of hyperfunctioning thyroid adenomas, in which different somatic mutations with similar functional characteristics have been demonstrated.
            Article 0 comments Cited 29 times – based on 0 reviews     Review now
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              Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.

              G Vassart, Lisa Jameson, J Parma … (1995)
              Article 0 comments Cited 26 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (publisher-id): HRE
                Journal ID (nlm-ta): Horm Res Paediatr
                Journal ID (doi): 10.1159/issn.1663-2818
                Title: Hormone Research in Paediatrics
                Publisher: S. Karger AG
                ISSN (Print): 1663-2818
                ISSN (Electronic): 1663-2826
                Publication date Subscription-year: 2005
                Publication date (Print): November 2005
                Publication date (Electronic): 21 November 2005
                Volume: 64
                Issue: 4
                Pages: 203-208
                Affiliations
                aUniversity Children´s Hospital Münster, Münster, and bChildren’s Hospital of the Johannes Gutenberg-University of Mainz, Mainz, Germany
                Article
                Publisher ID: 89348 Other ID: Horm Res 2005;64:203–208
                DOI: 10.1159/000089348
                PubMed ID: 16260895
                SO-VID: d18535db-cbeb-421c-812e-7d4e15c08878
                Copyright © © 2005 S. Karger AG, Basel
                License:

                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.

                History
                Date received : 16 December 2004
                Date accepted : 04 July 2005
                Page count
                Figures: 4, Tables: 1, References: 25, Pages: 6
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Endocrinology & Diabetes,Neurology,Nutrition & Dietetics,Sexual medicine,Internal medicine,Pharmacology & Pharmaceutical medicine
                Keywords: TSH receptor gene mutation,Carbimazole therapy,Congenital hyperthyroidism
                Data availability:
                ScienceOpen disciplines: Endocrinology & Diabetes, Neurology, Nutrition & Dietetics, Sexual medicine, Internal medicine, Pharmacology & Pharmaceutical medicine
                Keywords: TSH receptor gene mutation, Carbimazole therapy, Congenital hyperthyroidism

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