目的 探讨影响先天性甲状腺功能减低症患儿不同转归的早期因素。 方法 选取2013年12月—2017年3月期间在本中心筛查并确诊的先天性甲状腺功能减低症患儿共80例,经左旋甲状腺激素钠治疗2~3年后停药评估再随访1年以上者,根据疾病转归将患儿分为持续性甲低组(29例)与暂时性甲低组(51例)。对2组患儿的临床情况进行回顾性分析,寻求影响结局的早期因素。结果 持续性甲低与暂时性甲低患儿初筛促甲状腺激素值[ 63.89 (43.89, 114.25) vs 38.54 (27.27, 60.00) mIU/L]、促甲状腺激素恢复正常所需剂量[(4.29±1.46) vs (3.38±1.34) μg/(kg·d)]、早期甲状腺超声正常比例[58.6%(17/29)vs 90.2%(46/51)]差异有统计学意义(P<0.05)。其中初筛促甲状腺激素值(最佳临界值:37.825 mIU/L,AUC=0.745,灵敏度0.897,特异度0.490)和出生后第8个月左旋甲状腺激素钠给药剂量[最佳临界值3.38 μg/(kg·d),AUC=0.759,灵敏度 0.586,特异度 0.843]可早期区别持续性甲低与暂时性甲低患儿。结论 初筛促甲状腺激素值和出生后左旋甲状腺激素钠给药剂量对先天性甲状腺功能减低症患儿临床转归有早期预测作用。

Objective To investigate the early factors affecting different outcomes of children with congenital hypothyroidism (CH). Methods A total of 80 children with CH screened and diagnosed at Meizhou Maternal and Child Health Care and Family Planning Service Center between December 2013 and March 2017, who were treated with levothyroxine sodium for 2~3 years and then discontinued for assessment and followed up for over 1 year, were selected and divided into the permanent CH group (29 cases) and transient CH group (51 cases) according to disease outcomes. The clinical conditions of the children were retrospectively analysed to seek early factors affecting outcome. Results The initial screening thyroid hormone values [ 63.89 (43.89, 114.25) vs 38.54 (27.27, 60.00) mIU/L ], the required dose to restore normal thyroid hormone in permanent and transient CH group [(4.29±1.46) vs (3.38±1.34) μg/(kg·d)], and the proportion of early normal thyroid ultrasound [58.6% (17/29) vs 90.2% (46/51)] had significant differences(P<0.05). The initial screening thyroid hormone value (optimal threshold: 37.825 mIU/L, AUC=0.745, sensitivity 0.897 and specificity 0.490) and the levothyroxine sodium dosage at eighth month of age [optimal threshold 3.38 μg/(kg·d), AUC=0.759, sensitivity 0.586 and specificity 0.843] could early distinguish permanent and transient CH children. Conclusions Initial screening thyroid hormone values and postnatal levothyroxine sodium dosage had an early predictive effect on clinical outcome in children with CH.

目的 探讨新生儿高促甲状腺素血症转归与先天性甲状腺功能减低的相关性。方法 选择2014年4月—2015年4月在本院新生儿疾病筛查中心筛查并诊断为高促甲状腺激素血症的患儿120例,期间密切监测甲状腺功能指标变化。结果 将非治疗组所有患儿按照入组该实验后首次抽取静脉血TSH检测水平分为3组:5.5~10.0 mU/L(20例)、10.1~15.0 mU/L(10例)、＞15.0 mU/L (8例)。非治疗组患儿第2次随访结果显示5.5~10.0 mU/L组所有患儿TSH水平<10.0 mU/L;10.1~15.0 mU/L组有1例患儿TSH水平＞10.0 mU/L,FT4水平在正常值上限;＞15.0 mU/L组有3例患儿 TSH水平＞10.0 mU/L,差异有统计学意义(P< 0.05),FT4水平在正常均值左右,差异没有统计学意义(P＞ 0.05),＞15.0 mU/L组3例患儿给予左旋甲状素钠治疗。治疗组有2例患儿分别在治疗15天和23天后出现医源性甲状腺功能亢进,停药和酌减药量后TSH、FT4水平均恢复正常。两组患者随访结束后TSH、TF4均恢复至正常水平。结论 大多数新生儿高促甲状腺素血症会随着年龄的增长恢复正常,而仅仅有少部分患儿会持续出现甲状腺功能异常,应积极随访;新生儿只有当TSH 基础值＞15.00 mU/L时才需要采用左旋甲状素钠替代治疗,并且严格随访甲状腺功能,避免过度治疗。