家族性甲状腺素结合球蛋白缺乏症。
Familial thyroxine-binding globulin deficiency.
作者信息
Torkington P, Harrison R J, Maclagan N F, Burston D
出版信息
Br Med J. 1970 Jul 4;3(5713):27-9. doi: 10.1136/bmj.3.5713.27.
Abstract
Genetically determined thyroxine-binding globulin deficiency is described in two families in the United Kingdom. All subjects in both pedigrees were euthyroid. Transmission was by sex-linkage; males showed low serum protein bound iodine and high thyroxine (T4) resin uptake due to complete absence of serum thryroxine-binding globulin; females were less severely affected. The distinctive biochemical results disclosed the diagnosis and emphasize that serum protein bound iodine levels should be interpreted carefully and tests, such as triiodothyroinine (T3) or T4 resin uptake, used to prevent erroneous diagnoses of hypothyroidism.
摘要
在英国的两个家族中发现了遗传性甲状腺素结合球蛋白缺乏症。两个家系中的所有受试者甲状腺功能均正常。该病通过性连锁遗传；男性由于完全缺乏血清甲状腺素结合球蛋白，血清蛋白结合碘水平低，甲状腺素（T4）树脂摄取率高；女性受影响程度较轻。这些独特的生化结果揭示了该诊断，并强调应谨慎解释血清蛋白结合碘水平，以及用于预防甲状腺功能减退症错误诊断的检测方法，如三碘甲状腺原氨酸（T3）或T4树脂摄取试验。
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J Clin Endocrinol Metab. 1964 Mar;24:294-8. doi: 10.1210/jcem-24-3-294.
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A euthyroid man without thyroxine-binding globulin.一名无甲状腺素结合球蛋白的甲状腺功能正常男性。
J Clin Endocrinol Metab. 1959 Apr;19(4):485-7. doi: 10.1210/jcem-19-4-485.
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Evidence for the existence of two thyroxine-binding globulin moieties: correlation between paper and starch-gel electrophoretic patterns utilizing thyroxine-binding globulin-deficient sera.存在两种甲状腺素结合球蛋白部分的证据：利用甲状腺素结合球蛋白缺乏血清的纸上电泳和淀粉凝胶电泳图谱之间的相关性。
J Clin Endocrinol Metab. 1966 Feb;26(2):181-8. doi: 10.1210/jcem-26-2-181.
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