先天性甲状腺功能低下的筛查和临床特点

CLINICAL FEATURES OF CONGENITAL HYPOTHYROIDISM AT DIAGNOSIS DETECTED BY NEONATAL SCREENING

本文总结新生儿筛查检出的 36例先天性甲状腺功能低下 (甲低 )确诊时的临床特点 ,结果显示在出生史中以足月儿、出生体重 >30 0 0克、剖腹产为多见。 2 9例 (81% )诊断时有临床表现 ,以黄疸延迟 ,便秘最多见。而根据临床表现确诊为先天性甲低者仅 2例 (6 % )。提醒新生儿科医师应认识先天性甲低临床表现。 36例 (10 0 % )初筛纸片血 TSH值均高于正常 ,提示血

Neonat Screening Center, Maternal and Neonatal Hospital of Guangzhou.\;Clinical features of 36 cases with Congenital Hypothyroidism (CH) detected by neonatal screening were summarized. The results showed that term infants, birth weight above 3000g and cesarean section were more common in birth history. 29 cases (81%) associated with clinical manifestations at diagnosis, in which prolonged jaundice and constipation were the most common. Only 2 cases (6%) with CH were confirmed on the basis of clinical manifestations. Neonatologist should be recognize clinical manifestations of CH. The initial screening TSH value in blood filter paper was increased in all 36 casce. This suggest that elevated TSH value be the most sensitive target for diagnosis of CH. (Original article on page 251)