早期筛查及干预对先天性甲状腺功能低下的预防作用

Effect of early screening and intervention on congenital hypothyroidism

目的：探讨早期筛查及干预对先天性甲状腺功能低下的预防作用。方法对32145例新生儿于出生后72 h 内筛查促甲状腺激素（TSH）、三碘甲腺原氨酸（T3）及甲状腺素（T4），并进行甲状腺超声检查，对其中100例先天性甲状腺功能低下患儿确诊后均接受左旋甲状腺素治疗，0～6个月用药剂量25～50μg／d，6～12个月用药剂量50～100μg／d，1～3个月用药剂量75～100μg／d。1岁内每3个月复查血清 TSH，2～3岁每6个月复查血清 TSH。选择30例健康新生儿为对照组。结果先天性甲状腺功能低下患儿 TSH 均值为（68．7±15．3）mU ／L，T4均值为（42．4±13．1）nmol／L。100例患儿中，包括原发性先天性甲状腺功能低下38例，暂时性先天性甲状腺功能低下62例。超声检查显示原发性先天性甲状腺功能低下均存在发育异常、缺如及异常共18例（47．4％），血流异常15例（39．5％）；暂时性先天性甲状腺功能低下超声检查均未见异常。治疗前，先天性甲状腺功能低下患儿 TSH 显著高于对照组[（68．7±15．3）mU ／L 比（4．6±1．1）mU ／L]， T4显著低于对照组[（42．4±13．1）nmol／L 比（124．4±45．5）nmol／L]，差异均有统计学意义（t ＝22．867、16．058，均 P ＜0．05）；治疗后，患儿 TSH 显著降低[（5．3±1．1）mU ／L 比（68．7±15．3）mU ／L]，T4显著升高[（114．5±35．4）nmol／L 比（42．4±13．1）nmol／L]，与治疗前比较，差异均有统计学意义（t ＝41．331、19．101，均 P ＜0．05），但与对照组比较，TSH 及 T4差异均无统计学意义（均 P ＞0．05）。经1～3年随访观察，患儿Gesell 发育量表测试显示患儿适应性、大动作、精细动作、语言及社交能力均达到正常水平。结论早期筛查及左甲状腺素治疗有利于先天性甲状腺功能低下患儿的康复。

Objective To investigate the effect of early screening and intervention on congenital hypothyroid-ism.Methods Thyroid stimulating hormone （TSH）,three thyroid stimulating hormone （T3 ）and thyroid hormone （T4 ）were screened in 72h after birth,and thyroid ultrasound examination.All the patients were treated with the treat-ment of the left -to -thyroid hormone,0 -6 months medication dose 25 -50g/d,6 -12months medication dose 50 -100g/d,1 -3months medication dose 75 -100g/d.Serum TSH was reviewed every three months in the age of 1 years, 2 -3 years old every six months to review the serum TSH.Results The mean value of TSH in children with congeni-tal hypothyroidism was （68.7 ±15.3）mU /L.The mean value of T4 was （42.4 ±13.1）nmol/L.100 cases of chil-dren,including 38 cases of primary congenital hypothyroidism,transient congenital hypothyroidism in 62 cases.Ultra-sound examination showed primary congenital hypothyroidism were developmental abnormalities,and abnormal absence of a total of 18 cases （47.4%）,Abnormal blood flow in 15 cases （39.5%）;No abnormalities were found in the ultrasound examination of the transient congenital hypothyroidism.Before treatment,TSH in children with congenital hypothyroidism was significantly higher than that in the control group[（68.7 ±15.3）mU /L vs （4.6 ±1.1）mU /L], T4 was significantly lower than the control group[（42.4 ±13.1）nmol/L vs （124.4 ±45.5）nmol/L],the differences 〈br〉 were statistically significant （t =22.867,16.058,all P 〈0.05）;After treatment,the TSH of the children was signifi-cantly decreased[（5.3 ±1.1）mU /L vs （68.7 ±15.3）mU /L],and the T4 was significantly increased[（114.5 ± 35.4）nmol/L vs （42.4 ±13.1）nmol/L],compared with before treatment,the differences were statistically significant （t =41.331,19.101,all P 〈0.05 ）,but compared with the control group,there were no significant differences between TSH and T4 （all P 〉0.05）.After 1 -3 years follow -up observation,children with Gesell development scale test showed that children with adaptability,large movements,fine movements,language and social skills to reach the normal level.Conclusion Early screening and treatment of the patients with congenital hypothyroidism is beneficial to the rehabilitation of the patients with congenital hypothyroidism.