中国先天性甲状腺功能减退症的遗传学研究进展
[Advances in genetic research of congenital hypothyroidism in China].
作者信息
Chen Xiao-Yu, Qin Xiao-Song
机构信息
Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Mar;20(3):243-250. doi: 10.7499/j.issn.1008-8830.2018.03.015.
Abstract
Congenital hypothyroidism (CH), which results from insufficient thyroid hormone biosynthesis, is one of the most common neonatal endocrine disorders. Thyroid dysgenesis and thyroid dyshormonogenesis are the two causes of CH and either one will lead to deficiencies of enzymes during thyroid hormone biosynthesis and insufficient thyroid hormone biosynthesis. Recently, researchers have performed extensive studies on genetics of CH. This paper reviews genes reported to be associated with CH in China.
摘要
先天性甲状腺功能减退症（CH）是由于甲状腺激素生物合成不足所致，是最常见的新生儿内分泌疾病之一。甲状腺发育不全和甲状腺激素合成障碍是CH的两个病因，任何一种都会导致甲状腺激素生物合成过程中酶的缺乏以及甲状腺激素生物合成不足。近年来，研究人员对CH的遗传学进行了广泛研究。本文综述了在中国报道的与CH相关的基因。
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Yonsei Med J. 2017 Jul;58(4):888-890. doi: 10.3349/ymj.2017.58.4.888.
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