Volume 6 Supplement 2

4th Congress of the Polish Thyroid Association 2013: abstracts of invited lectures and oral presentations

Open Access

Non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations - 2012 European Thyroid Association Guidelines

  • R Paschke1,
  • M Niedziela2,
  • B Vaidya3,
  • L Persani4,
  • B Rapoport5 and
  • J Leclere6
Thyroid Research20136(Suppl 2):A45

https://doi.org/10.1186/1756-6614-6-S2-A45

Published: 5 April 2013

All cases of familial thyrotoxicosis with absence of evidence of autoimmunity and all children with persistent isolated neonatal hyperthyroidism should be evaluated for familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) or persistent sporadic non-autoimmune hyperthyroidism (PSNAH). First, all index patients should be analysed for the presence/absence of a thyroid-stimulating hormone (TSH) receptor (TSHR) germline mutation, and if they display a TSHR germline mutation, all other family members including asymptomatic and euthyroid family members should also be analysed. A functional characterization of all new TSHR mutations is necessary. Appropriate ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences, especially in children. Therefore, in children the diagnosis of FNAH or PSNAH needs to be established as early as possible in the presence of the clinical hallmarks of the disease.

Authors’ Affiliations

(1)
Department of Endocrinology and Nephrology, Leipzig University
(2)
Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences
(3)
Department of Endocrinology, Royal Devon and Exeter Hospital, Peninsula Medical School
(4)
Department of Clinical Sciences, and Community Health, University of Milan, and Istituto Auxologico Italiano
(5)
Autoimmune Disease Unit, Cedars-Sinai Research Institute and School of Medicine, University of California
(6)
Centre Hospitalier Universitaire de Nancy

References

  1. Paschke R, Niedziela M, Vaidya B, Persani L, Rapoport B, Leclere J: 2012 European Thyroid Association Guidelines for the Management of Familial and Persistent Sporadic Non-Autoimmune Hyperthyroidism Caused by Thyroid-Stimulating Hormone Receptor Germline Mutations. In Eur Thyroid J. Volume 1. S. Karger AG, Basel; 2012:142–147. (DOI:10.1159/000342982) Copyright © 2012 European Thyroid Association 10.1159/000342982Google Scholar

Copyright

© Paschke et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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