Article
Can inactivation mutation in the thyroid stimulating hormone receptor gene and hyperthyroidism coexist?: A case report.
Medicine - 19 Jan 2024
Liu Yanfang, Li Jie, Gao Fei, Zhao Changjian, Yang Luyang, Liu Yunfeng
Abstract excerpt
INTRODUCTION: We found the G132R heterozygous mutation of thyroid stimulating hormone receptor (TSHR) gene in a patient with recurrent hypokalemia. Because the patient had a medical history of hyperthyroidism, the mutation was suspected to be related to hyperthyroidism at first. Subsequently, the expression and function studies in vitro were conducted. METHODS: Wide-type TSHR and mutant TSHR (mutTSHR) were...
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