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酶缺陷所致甲状腺功能减退症。

Hypothyroidism due to enzyme defects.

作者信息

McGirr E M, Thomson J A

出版信息

Postgrad Med J. 1968 May;44(511):398-403. doi: 10.1136/pgmj.44.511.398.

Abstract

Defects in thyroid hormone production, transport and utilization are classified. Particular attention is given to inherited intrathyroidal defects in hormone synthesis which impair thyroid function and lead to goitre formation and hypothyroidism. Anomalies in biosynthesis may also result from disease or drugs. Reference is made to the derangement of iodine metabolism that results from iodine deficiency and from insufficient TSH. Illustrative clinical problems with regard to transport and utilization are quoted, and it is inferred that they lie in rather neglected areas. Throughout an attempt has been made to show how the clinical problems that are encountered in practice may, by the techniques of investigation available to us, be related to the theoretical list of defects that are included in the classification.

摘要

甲状腺激素产生、运输和利用方面的缺陷进行了分类。特别关注了遗传性甲状腺内激素合成缺陷,这些缺陷会损害甲状腺功能,导致甲状腺肿形成和甲状腺功能减退。生物合成异常也可能由疾病或药物引起。提到了碘缺乏和促甲状腺激素不足导致的碘代谢紊乱。引用了有关运输和利用方面的典型临床问题,并推断这些问题存在于相当被忽视的领域。在整个过程中,一直试图表明,通过我们可用的调查技术,实践中遇到的临床问题如何与分类中所包含的理论缺陷列表相关联。

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