新生儿甲状腺功能亢进症的临床特点与诊治转归  

Clinical characteristics, diagnosis, treatment and prognosis of neonatal hyperthyroidism

作　　者：利虹宜 黄新疆 毛晓健 Li Hongyi;Huang Xinjiang;Mao Xiaojian(Department of Genetics and Endocrinology,Guangzhou Women and Children′s Medical Center,Guangzhou Medical University,Guangzhou 510623,China)

机构地区：[1]广州医科大学附属妇女儿童医疗中心遗传与内分泌科,广州510623

出　　处：《中华实用儿科临床杂志》2025年第2期97-100,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：广州市科学技术局基础研究计划(202201020609)。

摘　　要：目的分析总结27例新生儿甲状腺功能亢进症(NH)的临床特点、诊治情况、预后转归。方法病例总结。收集2018年1月至2023年12月广州医科大学附属妇女儿童医疗中心诊治的NH患儿临床资料, 并进行回顾性分析。结果共纳入NH患儿27例, 其中仅1例患儿母亲甲状腺功能正常, 其余26例母亲均有孕前或孕期甲状腺功能亢进病史;诊断时间中位数为出生12 d(4~42 d), 临床表现以心率增快(20例)、兴奋(6例)多见。16例患儿(59.26%)家属自觉无症状, 因新生儿筛查阳性召回或孕母甲状腺功能异常病史完善相关检查发现甲状腺功能亢进, 其中9例就诊时发现心率增快, 7例未发现临床症状及查体异常。20例患儿予甲巯咪唑(MMI)治疗, MMI使用时间中位数53 d(6~264 d), 甲状腺功能恢复正常时间中位数76.5 d(44.0~209.0 d)。12例患儿甲状腺功能恢复后继续随访, 其中1例体格发育欠佳, 4例发育指标延迟, 1例前囟早闭。结论孕母的甲状腺病史对NH的诊断十分重要, 对有甲状腺疾病家族史的新生儿应积极随访, 动态监测孕母和新生儿的促甲状腺素受体抗体, 以便预测及尽早诊治NH, 防止发生不良结局。Objective To analyze and summarize the clinical characteristics,diagnosis,treatment,and prognosis of 27 cases of neonatal hyperthyroidism(NH).Methods A case summary was made.The clinical data of children who were diagnosed with NH and treated at Guangzhou Women and Children′s Medical Center,Guangzhou Medical University from January 2018 to December 2023 were collected and retrospectively analyzed.ResultsA total of 27 NH children were included.Only 1 child′s mother had normal thyroid function,and the mothers of the remaining 26 children had a history of hyperthyroidism before or during pregnancy.The median diagnosis time was 12 days after birth(4-42 days).The main clinical manifestations were tachycardia(20 cases)and excitement(6 cases).However,the family members of 16 children(59.26%)felt asymptomatic.These children were recalled due to positive results of neonatal screening or abnormal thyroid function detected in their mothers during pregnancy.Then they perfected a thyroid function test and were diagnosed with NH.Tachycardia was detected in 9 of the 16 children at presentation,and nothing abnormal was found in the remaining 7 children.Twenty children were treated with Methimazole(MMI).The median MMI use time was 53 days(6-264 days),and the time for thyroid function to return to normal was 76.5 days(44.0-209.0 days).Twelve children were followed up after recovery of thyroid function,and 1 case of them was diagnosed with physical stunting,4 cases were diagnosed with development delay,and 1 case had premature fusion of bregma.Conclusions The history of thyroid disease in pregnant mothers is very important for NH diagnosis,and neonates with family history of thyroid disease should be followed up.Moreover,the thyroid stimulating hormone receptor antibody should be dynamically monitored in pregnant mothers and neonates.It will contribute to the prediction and early treatment of NH,thereby preventing adverse outcomes.

关 键 词：婴儿 新生 甲状腺功能亢进症 抗甲状腺药物 促甲状腺素受体抗体 

分 类 号：R722.1[医药卫生—儿科]