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A Novel Activating Mutation In Transmembrane Helix 6 Of The Thyrotropin Receptor As Cause Of Hereditary Nonautoimmune Hyperthyroidism, Benjamin U. Nwosu, Loukas Gourgiotis, Marvin C. Gershengorn, Susanne Neumann

Benjamin U. Nwosu

Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered the cause of hereditary nonautoimmune hyperthyroidism. We describe four affected individuals from a Caucasian family: a mother and her three children, and an unaffected father. The mother and her first two children presented in a similar manner: lifelong histories of heat intolerance, hyperactivity, fast heart rate, reduced energy, increased appetite, and scrawny build. They all developed goiter in childhood and showed a suppressed TSH and elevated thyroxine (T(4)). The last child, a 12-year-old female, presented with no clinical symptoms or palpable neck mass, but with …