Endocrine Abstracts

Nonautoimmune hyperthyroidism (NAH) due to activating mutation of the TSH receptor (TSHR) gene is extremely rare. We report 4 unrelated families with NAH experienced for the last two years in Kumamoto Prefecture, Kyushu, Japan. TSHR gene mutation site of these four families are all the same: p.Asn406Ser (heterozygous). Thyroid functions observed in these families were subclinical hyperthyroidism or overt hyperthyroidism except for one case with euthyroidism. Thyroid autoantibo...

Introduction: Hyperthyroidism with diffuse goiter and negative TBII includes Graves’ disease in the early stage or near remission and nonautoimmune hyperthyroidism (NAH) caused by constitutively activating germline mutations of TSH receptor. To verify the NAH in this situation, we examined TSH receptor mutation and followed-up the clinical course.Patients and methods: From 2003 through 2011, 84 patients had hyperthyroidism with negative TBII and dif...