SYNDROME OF CONGENITAL HYPOTHYROIDISM WITH DEFECTIVE DEHALOGENATION OF IODOTYROSINES - FURTHER OBSERVATIONS AND A DISCUSSION OF THE PATHOPHYSIOLOGY
SYNDROME OF CONGENITAL HYPOTHYROIDISM WITH DEFECTIVE DEHALOGENATION OF IODOTYROSINES - FURTHER OBSERVATIONS AND A DISCUSSION OF THE PATHOPHYSIOLOGY
复制标题
DOI：
10.1210/jcem-20-7-983
复制
发表时间：
1960-01-01
影响因子：
5.8
通讯作者：
QUERIDO, A
中科院分区：
文献类型：
--
作者：
CHOUFOER, JC;KASSENAAR, AAH;QUERIDO, A
观察3例先天性甲状腺功能减退症和碘酪氨酸脱卤缺陷。在一项研究中，甲状腺组织在体外不能使二碘酪氨酸脱碘。发现同一患者甲状腺碘含量极低。一个趋势，碘代谢朝着一个更正常的模式，观察到在一个病人治疗一段时间后，与干燥的甲状腺，但有缺陷的脱卤碘酪氨酸持续存在。这3例患者的结果与第4例患者的结果进行了对比，第4例患者似乎患有由甲状腺素合成中的特定缺陷引起的先天性甲状腺功能减退症。在该患者中，甲状腺组织和静脉给药后的二碘酪氨酸代谢正常。现有的证据有关先天性甲状腺功能减退症与缺陷脱卤，并在这种疾病中发现的主要异常的意义，进行了严格的分析。得出的结论是，这种类型的先天性甲状腺功能减退症的缺陷表现出足够的独特性，允许其作为一个单独的实体识别。
Observations are presented on 3 patients with congenital hypothyroidism and defective dehalogenation of iodotyrosines. In one, the inability of thyroid tissue to deiodinate diiodotyrosine was demonstrated in vitro. The same patient was found to have an extremely low thyroidal iodine content. A trend of iodine metabolism towards a more normal pattern was observed in one of the patients after a period of treatment with desiccated thyroid, but defective dehalogenation of iodotyrosines persisted. The findings in these 3 patients are contrasted with those in a fourth patient, who appeared to have congenital hypothyroidism caused by a specific defect in thyroxine synthesis. Metabolism of diiodotyrosine by thyroid tissue and after intravenous administration was found to be normal in this patient. The available evidence concerning congenital hypothyroidism with defective dehalogenation, and the significance of the principal abnormalities found in this disorder, are critically analyzed. The conclusion is reached that the defects demonstrated in this type of congenital hypothyroidism are sufficiently distinctive to permit its recognition as a separate entity.