先天性甲状腺功能减退症（CH）是指在某些病因的作用下，胚胎期下丘脑-垂体-甲状腺轴的发生、发育和功 能代谢出现异常，导致患儿血循环中甲状腺激素水平下降，如未得到及时诊断与治疗，患儿的生长发育会受到严重影响。 近年来，基因检测逐步应用于临床，致病基因的发现将有利于CH的早期诊断或症状前诊断，以及产前诊断。文章从导致 CH的综合征和非综合征两方面阐述相关基因突变的研究进展。

　Congenital hypothyroidism (CH) refers to abnormalities in the occurrence, development and functional metabolism of hypothalamus-pituitary-thyroid axis during embryonic period due to some causes, resulting in a decrease in thyroid hormone levels in the blood circulation of children. Without timely diagnosis and treatment, the growth and development of children will be seriously affected. In recent years, gene detection has been gradually applied to the clinic, and the discovery of disease-causing genes will be beneficial for early diagnosis or pre-symptomatic diagnosis of CH and prenatal diagnosis. The article describes the research progress in related gene mutations causing CH from both syndromic and nonsyndromic aspects.