181636例新生儿先天性甲状腺功能减低症筛查与随访分析

Screening and follow-up analysis of 181 636 cases of neonatal congenital hypothyroidism

目的总结分析淄博市新生儿先天性甲状腺功能减低症（congenital hypothyroidism，cH）的筛查及阳性病例的治疗与随访。方法对2011年1月～2014年12月出生的181636例新生儿进行促甲状腺激素（TSH）筛查．采用时间分辨免疫荧光法筛查，化学发光法进行诊断，结合甲状腺B超制定治疗方案。阳性随访患者分为甲减组50例、高TSH服药组56例、高TSH不服药观察组24例，随访10个月～4年10个月，定期进行体检智力测试。结果甲减组停药16例，高TSH服药组停药17例，高TSH观察组1例服药，23例3个月内恢复正常。体格发育与智能发育均正常。治疗1年时，B超下甲状腺组织形态CH组治疗前后差异无统计学意义（P〉0．05），高TSH服药组治疗前后差异有统计学意义（尸〈0．05）。结论新生儿疾病筛查是早期诊断先天性甲状腺功能减低症的必要手段，对于高TSH血症不需服药的小儿随访时限最短为3个月，高TSH血症短期内甲状腺形态恢复正常较甲减组明显，甲状腺B超能为尝试性停药提供依据。

Objective To analyze and summarize the screening of congenital hypothyroidism in Zibo City and treatment and follow-up of positive cases. Methods A total of 181 636 cases of newborns from January 2011 to December 2014, received thyroid stimulating hormone（TSH） screening, and time-resolved immunofluorescence assay was used for screening, and chemiluminescence was used for diagnosis, with thyroid B ultrasound for treatment plan. Positive hy- pothyroid follow-up patients were divided into the hypothyroidism group（with 50 patients）, the high TSH medication group （with 56 cases）, and the high TSH observation group without taking medicine （with 24 cases）. Periodic medical examinations and intelligence test were conducted during follow-up for 10 months to 4 years and 10 months. Results There were 16 cases of medication withdrawal in the hypothyroidism group, 17 cases of medication withdrawal in the high TSH withdrawal medication group, and one case of medication in the high TSH observation group, and 23 cases returned to normal within three months. Physical growth and mental development were normal. After 1 year of treat- ment, there was no statistically significant difference in comparing thyroid tissue by B ultrasound in CH group before and after therapy （P〉0.05）, and there was statistically significant difference in comparing thyroid tissue by B ultrasound in high TSH medication group before and after therapy （P〈0.05）. Conclusion Neonatal disease screening is a neces- sary means of early congenital hypothyroidism diagnosis, and follow-up time for TSH hyperlipidemia children without taking medicine is more than three months. Compared with normal hypothyroidism group, thyroid morphological restora- tion of high TSH group in short period is significant. Thyroid B ultrasound can provide the basis for a tentative with- drawal.