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目的考察甲状腺激素β受体(TRβ)基因突变致甲状腺激素抵抗综合征(THRS)对骨骼质量损害和体内钙磷水平的影响。方法追踪随访2008年5月至2014年9月确诊的THRS患者6例,选择健康体检志愿者10例为对照组。测清晨空腹血中血清Ca~(2+)和P,对全部病例进行测序。结果与对照组比,所有THRS患者血清T_3、T_4、FT_3、FT_4、TSH和甲状腺结合蛋白均异常增高(P<0.05),身高、体重、骨密度和骨硬度偏低(P<0.05),骨折风险指数较高(P<0.05),血清Ca~(2+)和P有增高趋势,但差异无统计学意义。结论 6例THRS患者均存在TRβ基因突变,且集中在第10外显子。
Objective To investigate the effect of thyroid hormone receptor β (TRβ) gene mutation on thyroid hormone resistance syndrome (THRS) on bone mass damage and calcium and phosphorus in vivo. Methods Six patients with THRS diagnosed from May 2008 to September 2014 were followed up, and 10 healthy volunteers were selected as the control group. Morning fasting blood serum Ca ~ (2+) and P, all cases were sequenced. Results Compared with the control group, the serum T_3, T_4, FT_3, FT_4, TSH and thyroid binding protein in all THRS patients were significantly increased (P <0.05), and the height, weight, bone mineral density and bone hardness were lower (P < The risk index was higher (P <0.05), serum Ca2 + and P were higher, but the difference was not statistically significant. CONCLUSION: TRβ gene mutation exists in 6 cases of THRS patients and is concentrated in exon 10.