Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

We describe severe thyrotoxicosis in young members of a family with nonautoimmune hyperthyroidism caused by a C672W germline mutation in exon 10 of TSHR gene. In this family, lack of genotype‐phenotype correlation and anticipation across generations could be linked to an increased iodine intake as r...

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Detalles Bibliográficos
Autores principales: Oliver‐Petit, Isabelle, Savagner, Frédérique, Grunenwald, Solange, Vialon, Magaly, Edouard, Thomas, Caron, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715599/
https://www.ncbi.nlm.nih.gov/pubmed/29225840
http://dx.doi.org/10.1002/ccr3.1178
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author Oliver‐Petit, Isabelle
Savagner, Frédérique
Grunenwald, Solange
Vialon, Magaly
Edouard, Thomas
Caron, Philippe
author_facet Oliver‐Petit, Isabelle
Savagner, Frédérique
Grunenwald, Solange
Vialon, Magaly
Edouard, Thomas
Caron, Philippe
author_sort Oliver‐Petit, Isabelle
collection PubMed
description We describe severe thyrotoxicosis in young members of a family with nonautoimmune hyperthyroidism caused by a C672W germline mutation in exon 10 of TSHR gene. In this family, lack of genotype‐phenotype correlation and anticipation across generations could be linked to an increased iodine intake as recently observed in France.
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spelling pubmed-57155992017-12-08 Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation Oliver‐Petit, Isabelle Savagner, Frédérique Grunenwald, Solange Vialon, Magaly Edouard, Thomas Caron, Philippe Clin Case Rep Case Reports We describe severe thyrotoxicosis in young members of a family with nonautoimmune hyperthyroidism caused by a C672W germline mutation in exon 10 of TSHR gene. In this family, lack of genotype‐phenotype correlation and anticipation across generations could be linked to an increased iodine intake as recently observed in France. John Wiley and Sons Inc. 2017-10-25 /pmc/articles/PMC5715599/ /pubmed/29225840 http://dx.doi.org/10.1002/ccr3.1178 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Oliver‐Petit, Isabelle
Savagner, Frédérique
Grunenwald, Solange
Vialon, Magaly
Edouard, Thomas
Caron, Philippe
Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
title Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
title_full Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
title_fullStr Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
title_full_unstemmed Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
title_short Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
title_sort severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (c672w) stimulating thyrotropin receptor germline mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715599/
https://www.ncbi.nlm.nih.gov/pubmed/29225840
http://dx.doi.org/10.1002/ccr3.1178
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