甲状腺激素抵抗综合征两例报道并文献回顾  

Two cases of thyroid hormone resistance syndrome with review of literature

作　　者：陈慧[1] 陈雪红[1] 刘玉梅[1] 倪安民[1] 

机构地区：[1]兰州大学第二医院内分泌科,730030

出　　处：《中华内分泌代谢杂志》2010年第1期41-42,共2页Chinese Journal of Endocrinology and Metabolism

摘　　要：对2例甲状腺激素抵抗综合征患者的临床表现、实验室检查及治疗效果进行分析。2例均表现出生长发育迟缓，血清TT3、FT3升高，吸碘率降低。其中1例患者存在先天性鸟脸畸形和神经性耳聋，血清TSH升高。超生理剂量外源性甲状腺素可抑制其促甲状腺素的合成与释放，2例患者均对甲状腺素治疗有效。甲状腺激素抵抗综合征是甲状腺激素受体基因突变相关性疾病，基因诊断是确诊本病的根本手段。The clinical features, laboratory data, and therapeutic efficacy of two patients with thyroid hormone resistance syndrome （TlqRS）were reported. Two cases manifested growth retardation, raised serum TT3 , FT3 levels,and decreased ^131I uptake. One patient presented with bird face deformity, nerve deafness, and raised TSH level. The superphysiologieal dosage of exogenous thyroxin inhibited the synthesis and release of thyrotropin. Thyroxin treatment proved to be effective for the patients. THRS is a disease related to thyroid hormone receptor gene mutation. The final diagnosis of this disease depends on gene analysis.

关 键 词：甲状腺激素抵抗综合征 检查 实验室 诊断 

分 类 号：R581[医药卫生—内分泌]