Two cases of thyroid hormone resistance syndrome with review of literature / 中华内分泌代谢杂志

ABSTRACT

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.