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.
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。