Ismail-Beigi F, Rahimifar M
J Clin Endocrinol Metab. 1977 Mar;44(3):499-506. doi: 10.1210/jcem-44-3-499.
Three siblings (products of consanguineous marriage) affected with iodotyrosine-dehalogenase deficiency (presumed homozygotes) were found to have low thyroxine and large multinodular goiters, but none was mentally retarded. Iodide therapy corrected the serum T4 and thyroidal iodide uptake and discharge curve. The goiters shrank with iodide treatment. The subjects demonstrated significant ability to deiodinate intravenously injected L-mono-iodotyrosine (MIT) but not L-diiodotyrosine (DIT); 9.9% and 80.0% of an injected dose of 125I-MIT and 125I-DIT appeared unchanged in the urine 4 h, respectively. The data in presumed heterozygote subjects (both parents and two other siblings) were intermediate between controls and affected subjects. Thyroidal dehalogenase activity was measured in one of the affected subjects in vitro. The tissue showed greater ability to deiodinate MIT than DIT, but both activities were much lower than that of control tissue. The disease appears to be transmitted in an autosomal recessive fashion. The MIT-dehalogenase activity demonstrable in the affected individuals may explain the mild phenotype, in that MIT leaking from the goiter can be deiodinated to a significance degree and the liberated iodide reutilized.
发现三名患有碘酪氨酸脱卤酶缺乏症（推测为纯合子）的同胞（近亲结婚的后代）甲状腺素水平低且有巨大的多结节性甲状腺肿，但均无智力发育迟缓。碘治疗纠正了血清T4以及甲状腺碘摄取和释放曲线。甲状腺肿在碘治疗后缩小。这些受试者表现出显著的静脉注射L-单碘酪氨酸（MIT）脱碘能力，但对L-二碘酪氨酸（DIT）无脱碘能力；静脉注射剂量的125I-MIT和125I-DIT分别有9.9%和80.0%在4小时后尿中未发生变化。推测的杂合子受试者（父母和另外两名同胞）的数据介于对照组和患病受试者之间。对一名患病受试者的甲状腺脱卤酶活性进行了体外测定。该组织对MIT的脱碘能力强于DIT，但两种活性均远低于对照组织。该疾病似乎以常染色体隐性方式遗传。患病个体中可检测到的MIT脱卤酶活性可能解释了其轻度表型，因为从甲状腺肿中泄漏的MIT可被显著程度地脱碘，释放的碘可被再利用。
