甲状腺激素抵抗综合征(syndrome of resistance to thyroid hormone, RTH)是一种罕见的遗传性甲状腺疾病。RTH临床表现及实验室检查异质性大，易被误诊甚至误治。本文通过对本院1例反复诊治长达6年的垂体型RTH患者相关临床资料进行回顾并汇总该病最新进展，以提高临床医生对RTH的认识。“,”Syndrome of resistance to thyroid hormone(RTH)is a rare hereditary thyroid disease with various clinical manifestations and laboratory findings. RTH could be misdiagnosed and mistreated, resulting in aggravation of the disease. We reviewed the medical records of a patient with RTH over the past six years. In addition, we provided a summary of latest progress for RTH to help the clinicians to improve the understanding of the disease.