CAJ | 학술논문

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TT_3、FT_3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凶突变相关性疾病,基因诊断是确诊本病的根本手段.
대2례갑상선격소저항종합정환자적림상표현、실험실검사급치료효과진행분석.2례균표현출생장발육지완,혈청TT_3、FT_3승고,흡전솔강저.기중1례환자존재선천성조검기형화신경성이롱,혈청TSH승고.초생리제량외원성갑상선소가억제기촉갑상선소적합성여석방,2례환자균대갑상선소치료유효.갑상선격소저항종합정시갑상선격소수체기흉돌변상관성질병,기인진단시학진본병적근본수단.
The clinical features,laboratory data,and therapeutic efficacy of two patients with thyroid hormone resistance syndrome(THRS)were reported.Two cases manifested growth retardation,raised serum TT_3,FT_3levels,and decreased~(131)I uptake.One patient presented with bird face deformity,nerve deafness,and raised TSH level.The superphysiological 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.