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Activating mutations in the TSHR gene were found in patients suffering from nonautoimmune hyperthyroidism. In the past, it was assumed that thyroid hyperplasia is due to constitutive activation of the Gs/adenylyl cyclase signaling pathway; however, the physiological role of the Gq/11 pathway in this context remains unclear.

A New Phenotype of Nongoitrous and Nonautoimmune Hyperthyroidism Caused by a Heterozygous Thyrotropin Receptor Mutation in Transmembrane Helix 6