A somatic mutation in the thyrotropin receptor gene in a patient with an autonomous nodule within a multinodular goiter

Gerasimos P. Sykiotis, Argyro Sgourou, Adamantia Papachatzopoulou, Kostas B. Markou, Venetsana Kyriazopoulou, Athanasios G. Papavassiliou, Apostolos G. Vagenakis, Neoklis A. Georgopoulos

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Thyrotropin (TSH) is the prime regulator of thyroid cell growth and function and acts through the thyrotropin receptor (TSHR) located on the surface membrane of thyrocytes. Somatic heterozygous mutations that cause TSHR activation in the absence of TSH have been found in toxic adenomas and in hot nodules of multinodular goiters…