关键词: 甲状腺激素抵抗综合征, 误诊, 基因, 代谢

Abstract: As a rare endocrine disease,  syndrome of thyroid hormone resistance (RTH) is characterized by significant heterogeneity in clinical manifestations and is very prone to improper treatment due to misdiagnosis.This paper systematically states  the diagnosis and treatment process of one RTH patient  who was misdiagnosed as Graves' disease in other hospitals,  then  analyzes the key points of identifying the disease and the importance of whole exon gene sequencing to the definite diagnosis.It also  points out the significance of avoidance of antihyperthyroidism drugs,  and emphasizes  the comprehensive management of glucose and lipid metabolism in RTH patients.

Key words: thyroid hormone resistance syndrome, misdiagnosis, gene, metabolism