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

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.

SUBMITTER: Oliver-Petit I 

PROVIDER: S-EPMC5715599 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature