Abstract: 　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.