Constitutively activating germline mutations in the thyrotropin receptor (TSHR) gene result in non-autoimmune hyperthyroidism and can be transmitted as a dominant trait or occur sporadically. These mutations are mostly located in the serpentine part of this G-protein coupled receptor.
Institute of Experimental Paediatric Endocrinology, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. heike.biebermann@charite.de.
