Open AccessSevere thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
Author(s) -
OliverPetit Isabelle,
Savagner Frédérique,
Grunenwald Solange,
Vialon Magaly,
Edouard Thomas,
Caron Philippe
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1178
Subject(s) - medicine , germline , thyrotropin receptor , anticipation (artificial intelligence) , germline mutation , endocrinology , exon , genotype , mutation , thyroid , iodine deficiency , gene , genetics , graves' disease , biology , artificial intelligence , computer science
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.