Searchable abstracts of presentations at key conferences in endocrinology

ea0051p005 | Thyroid | BSPED2017

Follicular thyroid carcinoma due to a heterozygous gain of function mutation in thyrotropin receptor (TSHR)

Blackburn James , Giri Dinesh , Seniappan Senthil , Didi Mohammed , Ciolka Barbara , Jones Matthew , Kokai George , Waghorn Alison , Gossan Nicole

Introduction: Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of non-autoimmune hyperthyroidism (familial or sporadic) and thyroid adenomas. We describe, for the first time, a mutation in TSHR contributing to follicular thyroid carcinoma (FTC) in an adolescent girl.Case: A 12-year-old girl presented with a right-sided neck swelling, increasing in size over the previous four weeks. Clinic...