Jacobsen B B, Hansted L C, Brandt N J, Haahr J, Hummer L, Munkner T, Sørensen S S
Acta Paediatr Scand. 1981 Mar;70(2):155-9. doi: 10.1111/j.1651-2227.1981.tb05534.x.
Serial determinations of serum thyroxine (T4), triiodothyronine (T3), thyrotropin (TSH), thyroid hormone-binding globulin (TBG), prealbumin (TBPA) and albumin were performed in a euthyroid girl with TBG deficiency and in her mother for a period of 22 months after delivery. At 8 days old the child had a serum TBG concentration around 50% of normal level which remained essentially unchanged during infancy. Total serum T4 and T3 concentrations were low, the free serum T4, free serum T3 and serum TSH concentrations were normal. The mother had received thyroid hormone from the age of 15 years. Her serum TBG level at 6 weeks post partum was similar to that of non-pregnant adults but decreased to about 50% of normal level, indicating a TBG deficiency. She remained euthyroid after withdrawal of T4 therapy. Serum TBPA and albumin concentration were normal in mother and child. An X-linked inheritance of the TBG deficiency was suggested from a study of the family.
对一名患有甲状腺激素结合球蛋白(TBG)缺乏症的甲状腺功能正常女孩及其母亲在分娩后的22个月内进行了血清甲状腺素(T4)、三碘甲状腺原氨酸(T3)、促甲状腺激素(TSH)、甲状腺激素结合球蛋白(TBG)、前白蛋白(TBPA)和白蛋白的系列测定。该患儿在8日龄时血清TBG浓度约为正常水平的50%,在婴儿期基本保持不变。血清总T4和T3浓度较低,血清游离T4、游离T3和TSH浓度正常。患儿母亲自15岁起接受甲状腺激素治疗。她产后6周时的血清TBG水平与非孕期成年人相似,但降至正常水平的约50%,表明存在TBG缺乏。停用T4治疗后她仍保持甲状腺功能正常。患儿及其母亲的血清TBPA和白蛋白浓度正常。通过对该家族的研究提示TBG缺乏症为X连锁遗传。