Abstract: Objective To study the cut-off value of screening congenital hypothyroidism (CH),and to analyze the different clinical features prognosis and influencing factors of permanent congenital hypothyroidism (PCH),and transient congenital hypothyroidism (TCH). Method A total of 2 789 cases of CH were enrolled in this research.Clinical data of newborn CH,diagnosed and followed-up in the neonatal screening center from August 1999 to April 2013,were collected retrospectively.The incidence,screening TSH values and complications of CH were assessed.According to whether the cases stop L-Thyroxine at 2 or 3 years old,participants were assigned into two groups:PCH group (n=682) and TCH group (n=621).The clinical features,prognosis,prognosis relevant factors were studied comparatively to PCH and TCH.And the clinical features of preterm CH and low-birth-weight newborn CH were also described. Result The neonatal screening incidence of CH was 1/1 886 in this study,the screening TSH level≥10 mU/L accounted for 97.5% cases.The 682 cases of PCH and 621 cases of TCH were diagnosed.The radio of male/female,mean screening TSH value and inital dosage of PCH group were higher than those of TCH group (4.44∶1 vs 1.14∶1 and 96.4±82.3 mU/L vs 46.8±46.0 mU/L,respectively,P<0.01).While the infant's age of serum FT4 values recovered,and the normal percentage of stature,bone age,DQ or IQ assessment of PCH group were lower than those of TCH group [(57.8±16.4) d vs (68.2±75.7) d,87.9% vs 99.0%,92.9% vs 96.7% and 95.1% vs 98.4%,respectively,P<0.01].117 (PCH 22.2%) cases of preterm CH and 111 cases (PCH34.2%) of low-birth weight newborn CH were found.56 cases (8.2%) in PCH group reused L-Thyroxine during followed-up.The complicated incidence in 2 789 cases of CH was 2.1%. Conclusion The recommended cut-off value in screening CH is >9 mU/L.The outcome of TCH was better than that of PCH.The high level of TSH level implies PCH.Preterm CH and low-birth-weight newborn CH need to be treatedstandard.CH cases need long-term following-up and systemic examination.

Key words: congenital hypothyroidism, newborn creening, incidence, treatment, prognosis

摘要： 目的 探讨先天性甲状腺功能低下症(CH)筛查切值、不同分类临床特征、预后及其相关因素。方法 收集1999年8月-2013年4月在本院新生儿疾病筛查中心确诊并随访的CH患儿临床资料,分析CH发病率;初筛促甲状腺激素(TSH)水平;早产儿、低体重儿CH临床特征;并发症;根据随访结果区分持续性甲状腺功能低下症(PCH)与暂时性甲状腺功能低下症(TCH),比较两组的临床特征,分析预后及相关因素。结果 共确诊CH 2 789例,发病率为1/1 886;确诊CH中初筛TSH值在9~10 mU/L者69例,占2.47%(69/2 789);TCH∶PCH为0.92∶1。两组间男∶女比、游离甲状腺激素(FT4)恢复正常日龄、初筛TSH值、初始用药剂量及身高、骨龄、智力发育结果差异有统计学意义(P均<0.01);PCH组中有56例(8.2%)停药观察后复用;早产儿CH117例,其中PCH占22.2%;低体重儿CH111例,PCH 34.2%;CH合并症发生率2.1%。结论 较理想的TSH筛查切值为>9 mU/L;TCH预后优于PCH;初筛高TSH值者PCH可能性大;早产儿、低体重儿CH多为TCH ;CH需重视长期随访和全身体检。

关键词: 先天性甲状腺功能减低症, 新生儿疾病筛查, 发病率, 治疗, 预后