Abstract: Objective　To investigate the treatment and clinical outcomes of children with congenital hypothyroidism（CH） complicated by thyroid enlargement，diagnosed through neonatal screening in Beijing，and to provide a scientific basis for standardizing clinical management. Methods　A retrospective study was conducted on children with CH and thyroid enlargement who were born in Beijing between January 2015 and December 2024，screened and diagnosed by the Beijing Newborn Screening Center，and received treatment.Their clinical characteristics，treatment regimens，and clinical outcomes were analyzed. Results　From January 2015 to December 2024，a total of 1 837 776 newborns were screened in Beijing；1 445 were diagnosed with CH，among whom 610 cases had thyroid enlargement. After excluding the ineligible cases，338 children with CH and thyroid enlargement were included，comprising 246 in the transient CH（TCH） group and 92 in the permanent CH（PCH） group. Significant differences were observed between the two groups in gestational age at birth，type of thyroid morphological changes，TSH levels at initial screening，FT4 levels at diagnosis，and L-T4 dosage at 12 and 24 months of age（P<0 .05）. ROC curve analysis showed that the combination of L-T4 dosage at 12 months of age and the change in dosage from age 1 to 2 had good predictive performance for TCH. Conclusion　The incidence of CH in Beijing is 78.6 per 100，000，and the incidence of CH with thyroid enlargement is 33.2 per 100，000，in which TCH accounts for a relatively high proportion.Gestational age at birth，L-T4 dosage at 24 months of age，and the change in L-T4 dosage from age 1 to 2 are independent influencing factors for TCH.

Key words: congenital hypothyroidism, neonatal screening, transient congenital hypothyroidism, permanent congenital hypothyroidism

摘要： 目的 探讨北京市新生儿筛查途径确诊的先天性甲状腺功能减退症（CH）伴有甲状腺肿大患儿的治疗及临床转归特征，为规范临床管理提供科学依据。方法 选择2015 年1 月至2024 年12 月间于北京市出生且经北京市新生儿疾病筛查中心筛查确诊并接受治疗的CH 伴甲状腺肿大患儿进行回顾性研究，分析其病例特点、治疗方案及临床转归情况。结果2015 年1 月至2024 年12 月北京市共筛查新生儿1 837 776 人，确诊CH 患儿1445 例，其中CH 伴甲状腺肿大患儿610 例，剔除不合格病例后共纳入338 例CH 合并甲状腺肿大患儿，其中暂时性CH（TCH）组246 例，永久性CH（PCH）组92 例。两组CH 患儿在出生孕周、甲状腺形态变化类型、初筛促甲状腺激素值、确诊时游离甲状腺素水平、12 月龄及24 月龄左甲状腺素（L-T4）用药量方面均存在差异，差异具有统计学意义（P<0 .05）。ROC 曲线分析结果显示24 月龄L-T4 用药量联合12~24 月龄L-T4 用药量变化量对TCH有较好的预测效能。结论 北京市CH 发病率为78 .6/10 万，伴甲状腺肿大的CH 发病率为33 .2/10 万，其中TCH比例较高，出生孕周、24 月龄L-T4 用药量、12~24 月龄L-T4 用药量变化量为TCH 的独立影响因素。

关键词: 先天性甲状腺功能减退症, 新生儿筛查, 暂时性甲状腺功能减退症, 永久性甲状腺功能减退症