[Non-autoimmune hyperthyroidism and hyperfunctioning thyroid adenomas caused by activating mutation of the thyrotropin receptor].
Constitutively activating mutations in the TSH receptor gene have been found in various disorders. Somatic mutations were identified in autonomously functioning thyroid nodules(AFTNs) and toxic multinodular goiters(TMNGs). Germline mutations were identified in autosomal dominantly inherited non-autoimmune hyperthyroidism and sporadic congenital hyperthyroidism. Most of activating TSH receptor mutations were identified in western countries. Only one Japanese family has been reported to have an activating TSH receptor mutation. Previous very poor and insensitive study identified no somatic TSH receptor activating mutations in 45 AFTNs and TMNGs developed in Japanese. Our recent study completely reversed their observation; about half of AFTNs in Japanese had activating mutations.
Kosugi
Shinji
S
Department of Clinical Genetics, Kyoto University Hospital.
D000236:Adenoma / Q000235:genetics*; D006801:Humans; D006980:Hyperthyroidism / Q000235:genetics*; D009154:Mutation; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
D011989:Receptors, Thyrotropin