先天性甲状腺功能减退症(congenital hypothyroidism,CH)是新生儿常见的内分泌疾病,主要是由于母孕期饮食中缺碘或患儿甲状腺先天性缺陷所致。其发病率约为1/2 050[1],临床主要表现为特殊面容、智力发育迟缓、生长发育落后等体格和智为发育障碍。该病作为可预防、可治疗的疾病,但由于先天性甲低患儿在新生儿期可无特异性临床症状或者症状轻微,从而给临床诊断带来了困难。目前,对新生儿进行群体筛 Congenital hypothyroidism (CH) is a common endocrine disease in neonates, mainly due to lack of iodine in the first trimester of pregnancy or congenital defects in children with thyroid. The incidence of about 1/2 050 [1], the main clinical manifestations of special facial, mental retardation, growth and development of physical and mental retardation, such as developmental disorders. The disease as a preventable, treatable disease, but due to congenital hypothyroidism in neonatal period can be no specific clinical symptoms or mild symptoms, which brings clinical diagnosis difficulties. Currently, group screening of newborns