Hirsch H J, Shilo S, Spitz I M
Postgrad Med J. 1986 Jun;62(728):477-80. doi: 10.1136/pgmj.62.728.477.
We studied two sisters who developed large non-toxic goitres in adolescence. Deiodinase deficiency was diagnosed by a rapid thyroid uptake of radioactive iodine (RAI) at 2 hours associated with a marked fall in thyroidal 131I by 24 hours. Serial RAI scans in the second patient documented evolution of the iodine-deficient state. Conservation of intra-thyroidal iodine stores was maintained by avid iodine uptake and failure to release organified 131I. With progressive loss of inorganic iodine, hypothyroidism developed, associated with a rise in serum TSH which further exacerbated the loss of iodine. Treatment with L-thyroxine resulted in an improvement of thyroid function, but normalization was achieved only after small doses of Lugol's iodine were administered. These studies illustrate the variable nature and late onset of an inborn error of thyroid metabolism. This family supports an autosomal recessive mode of inheritance for deiodinase deficiency. We have documented progression from a euthyroid to hypothyroid state resulting from decompensation of iodine conservation mechanisms.
我们研究了两名在青春期出现巨大无毒甲状腺肿的姐妹。通过2小时甲状腺对放射性碘（RAI）的快速摄取以及24小时甲状腺131I的显著下降诊断出脱碘酶缺乏。对第二名患者进行的系列RAI扫描记录了碘缺乏状态的演变。甲状腺内碘储备通过对碘的强烈摄取得以维持，且未能释放有机化的131I。随着无机碘的逐渐流失，甲状腺功能减退症出现，同时血清促甲状腺激素（TSH）升高，这进一步加剧了碘的流失。左甲状腺素治疗使甲状腺功能得到改善，但仅在给予小剂量卢戈氏碘后才实现正常化。这些研究说明了甲状腺代谢先天性缺陷的多变性质和迟发性。这个家族支持脱碘酶缺乏的常染色体隐性遗传模式。我们记录了由于碘保存机制失代偿导致从甲状腺功能正常状态发展到甲状腺功能减退状态的过程。
