先天性甲状腺机能低下(下称先甲低)是可治愈的常见代谢性疾病,发病率约为四千分之一。高出苯丙酮尿症三倍之多。先甲低可以发生很多代谢紊乱和生长障碍。用补偿疗法可以恢复,一旦有中枢神经系统损害则不能恢复。为了预防此不可恢复的损害,尽力寻找早期诊断和治疗,新生儿期的筛选是一大进展。 Congenital hypothyroidism (hereinafter referred to as first hypothyroidism) is a common metabolic disease that can be cured, the incidence of about one in four thousandths. 3 times higher than phenylketonuria. A low first generation can occur a lot of metabolic disorders and growth disorders. With compensatory therapy can recover, once the central nervous system damage can not be restored. In order to prevent this unrecoverable damage, trying to find an early diagnosis and treatment, screening for the newborn is a big step forward.