FAMILIAL SYNDROME COMBINING DEAF-MUTISM STIPPLED EPIPHYSES GOITER AND ABNORMALLY HIGH PBI - POSSIBLE TARGET ORGAN REFRACTORINESS TO THYROID HORMONE
FAMILIAL SYNDROME COMBINING DEAF-MUTISM STIPPLED EPIPHYSES GOITER AND ABNORMALLY HIGH PBI - POSSIBLE TARGET ORGAN REFRACTORINESS TO THYROID HORMONE
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DOI：
10.1210/jcem-27-2-279
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发表时间：
1967-01-01
影响因子：
5.8
通讯作者：
DEGROOT, LJ
中科院分区：
文献类型：
--
作者：
REFETOFF, S;DEWIND, LT;DEGROOT, LJ
发生一个奇怪的家族综合征相结合的聋哑，斑点骨骺，甲状腺肿和异常高的PBI在2 6个孩子的近亲婚姻的描述。平均PBI [蛋白结合碘]水平为14和21 [mu]g/100 ml; BEI [丁醇提取碘] 9和15 [mu]g/100 ml; T4-通过柱11和14 [mu]g/100 ml; 24小时I131摄取49和70%; 24小时PB 1131转化率40和41%;甲状腺结合指数0.81和0.93; TBG [甲状腺素结合球蛋白] 17和20 [mu]g/100 ml;抗甲状腺球蛋白滴度小于1：16。高氯酸钾放电试验正常。1例受试者的碘代谢研究显示甲状腺碘清除率为24 ml/min，肾脏清除率为26 ml/min。尿碘排泄量为294 [mu]g/天，PB I131超过T4的70%。在3种溶剂系统中，在纸层析上鉴定了T4。游离甲状腺素水平为4.9 [mu]g/100 ml。一个8周大的婴儿的平均PBI为19.3 [mu]g/100 ml，TBG为15.8 [mu]g/100 ml，推测也患有该综合征。另一个同胞的平均PBI为11 [mu]g/100 ml。两个兄弟姐妹和父母都正常。提出了一种假设，即在血液甲状腺素循环水平高和甲状腺素结合能力正常的情况下，受试者的代谢正常状态可能会抑制甲状腺激素转运到组织中，或导致终末器官对甲状腺激素的抵抗。
The occurrence of a bizarre familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI in 2 of 6 children of a consanguineous marriage is described. Mean PBI [protein bound iodine] levels were 14 and 21 [mu]g/100 ml; BEI [butanol extractable iodine] 9 and 15 [mu]g/100 ml; T4-by-column 11 and 14 [mu]g/100 ml; 24-hr I131 uptake 49 and 70%; 24-hr PB 1131 conversion ratios 40 and 41%; thyro-binding index 0.81 and 0.93; TBG [thyroxin binding globulin] 17 and 20 [mu]g/100 ml; antithyroglobulin titer less than 1:16. Potassium perchlorate discharge test was normal. Iodine metabolism studied in one subject revealed thyroid iodine clearance of 24 ml/min and renal clearance of 26 ml/min. Urinary iodide excretion was 294 [mu]g/day, and PB I131 was over 70% as T4. The T4 was identified on paper chromatography in 3 solvent systems. The free thyroxine level was 4.9 [mu]g/100 ml. An infant of 8 weeks had a mean PBI of 19.3 [mu]g/100 ml, TBG of 15.8 [mu]g/100 ml, and presumably also has the syndrome. Another sib had a mean PBI of 11 [mu]g/100 ml. Two sibs and the parents are normal. A hypothesis is advanced suggesting the possibility of inhibition of thyroid hormone transport into tissue, or end-organ resistance to the hormone in view of the eumetabolic state of the subjects in the presence of high circulating levels of blood thyroxine and normal thyroxine binding capacity.