Schober E, Frisch H, Weissel M
Klin Padiatr. 1983 Mar;195(2):121-3. doi: 10.1055/s-2008-1034054.
Elevation of Thyroxine-binding globulin (TBG) in serum may lead to abnormally high total-thyroxine (T4) concentration. Causally hyper-TBG-aemia can either be acquired (estrogentherapy; hepatitis etc.) or familial. In a family-study with 3 generations 6 persons were found with this rare anomaly. Analysis of the pedigree is in accordance with an X-chromosomal transmission. Five of the affected family members were clinically euthyroid and had normal T4/TBG and effective thyroxine ratios (ETR). In one patient hypothyroidism was detected by these indirect parameters despite a normal T4-concentration. Changes in serum levels of thyroxine binding proteins make it difficult to diagnose a disturbance in thyroid function. However indirect parameters for free T4 (ETR, T4/TBG) as well as the TRH-Test allow a clear diagnosis in such patients.
血清中甲状腺素结合球蛋白(TBG)升高可能导致总甲状腺素(T4)浓度异常升高。导致高TBG血症的原因可能是后天获得性的(雌激素治疗;肝炎等)或家族性的。在一项三代人的家族研究中,发现6人患有这种罕见异常。系谱分析符合X染色体遗传。5名受影响的家庭成员临床甲状腺功能正常,T4/TBG和有效甲状腺素比率(ETR)正常。在一名患者中,尽管T4浓度正常,但通过这些间接参数检测到甲状腺功能减退。甲状腺素结合蛋白血清水平的变化使得难以诊断甲状腺功能紊乱。然而,游离T4的间接参数(ETR、T4/TBG)以及促甲状腺激素释放激素(TRH)试验可对此类患者做出明确诊断。