Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation. Issue 12 (25th October 2017)

• Record Type: Journal Article
• Authors: Oliver‐Petit, Isabelle; Savagner, Frédérique; Grunenwald, Solange; Vialon, Magaly; Edouard, Thomas; Caron, Philippe
• Is Part Of: Clinical case reports. Volume 5:Issue 12(2017)
• Page Start: 1980
• Page End: 1987
• Publication Date: 2017-10-25
• Subjects: Familial nonautoimmune hyperthyroidism -- iodine intake -- mitral valve prolapse -- proptosis -- stimulating TSH receptor gene mutation; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1178
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. Abstract : 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.