中国儿童先天性甲状腺功能减退症的基因学研究进展

先天性甲状腺功能减退症（先天性甲减）是新生儿最常见的一种内分泌障碍性疾病,是由于甲状腺激素的合成不足而不能满足机体的需求。其发病机制主要分为两种,即甲状腺发育不全和甲状腺内分泌障碍,均可引起甲状腺激素合成过程中相关酶的缺陷而导致甲状腺激素合成不足。近年许多研究者在先天性甲减的基因学方面开展了广泛研究,本文就已发现的与中国人先天性甲减相关的基因学研究进行综述。...

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Bibliographic Details
Published in	Zhongguo dang dai er ke za zhi Vol. 20; no. 3; pp. 243 - 250
Main Author	陈晓宇;秦晓松
Format	Journal Article
Language	Chinese English
Published	中国长沙中国当代儿科杂志编辑部 25.03.2018
Subjects	Review 先天性甲状腺功能减退症;基因型;表现型;儿童综述
Online Access	Get full text
ISSN	1008-8830
DOI	10.7499/j.issn.1008-8830.2018.03.015

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Summary:	先天性甲状腺功能减退症（先天性甲减）是新生儿最常见的一种内分泌障碍性疾病,是由于甲状腺激素的合成不足而不能满足机体的需求。其发病机制主要分为两种,即甲状腺发育不全和甲状腺内分泌障碍,均可引起甲状腺激素合成过程中相关酶的缺陷而导致甲状腺激素合成不足。近年许多研究者在先天性甲减的基因学方面开展了广泛研究,本文就已发现的与中国人先天性甲减相关的基因学研究进行综述。
Bibliography:	43-1301/R Congenital hypothyroidism; Genotype; Phenotype; Child 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. CHEN Xiao-Yu, QIN Xiao-Song. （Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China）
ISSN:	1008-8830
DOI:	10.7499/j.issn.1008-8830.2018.03.015