Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.

@article{Nishihara2010SubclinicalNH,
  title={Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.},
  author={Eijun Nishihara and C R Chen and Takuya Higashiyama and Yumiko Mizutori-Sasai and M. Ito and Sumihisa Kubota and Nobuyuki Amino and Akira Miyauchi and Basil Rapoport},
  journal={Thyroid : official journal of the American Thyroid Association},
  year={2010},
  volume={20 11},
  pages={1307-14}
}
BACKGROUND Subclinical hyperthyroidism is usually associated with Graves' disease or toxic nodular goiter. Here we report a family with hereditary subclinical hyperthyroidism caused by a constitutively activating germline mutation of the thyrotropin receptor (TSHR) gene. METHODS The proband was a 64-year-old Japanese woman who presented with a thyroid nodule and was found to be euthyroid with a suppressed serum TSH. The nodule was not hot. Although antibodies to thyroid peroxidase and… CONTINUE READING