目的 了解先天性甲状腺功能减低症（CH）的筛查及替代治疗结果。方法 回顾性分析2003年7月—2015 年7月采用时间分辨荧光免疫法测定新生儿促甲状腺激素（TSH）水平筛查CH的资料；阳性召回的可疑患儿采用化学免 疫发光法测定血清甲状腺功能，确诊者予左旋甲状腺素钠替代治疗并定期随访。结果 12年来共筛查新生儿1 228 289例， 确诊950例，CH发病率1/1 293。接受正规治疗、随访满2年及以上的635例CH患儿中，488例（76.85%）为永久性CH， 147例（23.15%）为暂时性CH。CH患儿随访至1岁和3岁时，体格生长和发育商（DQ）无异常。结论 新生儿筛查可早期 诊断CH，早期实施替代治疗。

Objective  To explore neonatal screening and therapeutic effects of congenital hypothyroidism (CH)  in Xuzhou. Methods Data of  neonatal heel blood thyroid stimulating hormone (TSH) tested with time-resolved  fluoroimmunoassay from July 2003 to July 2015 were retrospectively analyzed; The cases with positive screening tests were  called back for further examination of the serum thyroid function (TSH，FT3，FT4) by chemiluminescence immunoassay method.  The CH patients were given levothyroxine replacement. A total of 686 patients with CH treated routinely for 1 years later (CH  group) and 650 matched healthy children (control group) were included in the study. The physical development was monitored  regularly. The neurodevelopment was tested at 1 and 3 years old. Results In Xuzhou 1228289 neonates were screened during  12 years，of them 950 cases were diagnosed with CH and the incidence was 1/1293. Among 635 CH patients who received  treatment and follow-up regularly for 2 years,?488 cases (76.85%) were evaluated to have permanent hypothyroidism and 147  cases (23.15%) have transient hypothyroidism. There were no significant differences in developmental quotient between the CH  group and the control group at 1 and 3 years old (P?>?0.05). Conclusions Neonatal disease screening is an effective measure  for early diagnosis of CH; the physical and mental development are normal in CH patients after early replacement therapy.