目的　探讨甲状腺激素抵抗综合征（RTH）的临床特点及甲状腺激素受体β（ TRβ）基因突变情况。方法　回 顾分析1例甲状腺激素抵抗综合征患儿的临床资料，以及采用目标外显子捕获结合高通量测序技术所进行的相关基因筛查 和对可疑位点进行Sanger测序的检测结果。结果　先证者，男，12岁。临床表现为生长发育迟缓、偶有心悸，甲状腺无肿大。 实验室检查示游离三碘甲状腺原酸、游离甲状腺素升高，促甲状腺激素正常。基因检测发现先证者及其父亲THRB第835位 点碱基鸟嘌呤突变为腺嘌呤，为新型杂合突变；其母亲该位点正常。该突变导致第279位氨基酸由丙氨酸变为苏氨酸，根据 ACMG指南为致病性变异。结论　基因检测有助RTHβ明确诊断。

Objective　To explore the clinical features and mutations of thyroid hormone receptor beta gene of resistance to thyroid hormone syndrome. Method　The clinical data of a child with resistance to thyroid hormone syndrome was retrospectively analyzed, blood samples were analyzed for related genes using targeted exome capture with high throughput sequencing. Detected variants were confirmed by Sanger sequencing. Results　The proband was a 12-year-old boy, clinically manifested with growth retardation, occasional palpitation, no enlargement of thyroid gland. Laboratory tests showed increased free triiodothyronic acid and free thyroxine levels and normal thyroid stimulating hormone level. Targeted sequencing identified a novel heterozygous pathogenic variant in THRB in proband and his father that resulted in the 835 base changed from guanine to adenine, thus causing the substitution of alanine to threonine at position 279 of the protein. His mother had two normal alleles at this locus. Conclusion　Gene detection is helpful for the diagnosis of RTH beta.