河南省新生儿先天性甲状腺功能低下症筛查及病因调查

Screening and Study on Etiology for Neonatal Congenital Hypothyroidism in Henan Province

目的研究河南省先天性甲状腺功能低下症（甲低,CH）的发病情况及发病原因。方法采用时间分辨免疫荧光法检测1998年1月-2004年12月河南省156家医院非选择性出生的新生儿33.8万例血促甲状腺素（TSH）水平,筛查阳性者召回,用直接化学发光免疫分析法测定其静脉血清T3、T4、TSH水平,以T3、T4低于正常、TSH水平高于正常者确诊为CH患儿,通过对CH患儿及其父母召回进行问卷调查和生长发育、智力测量及相关医学检查,寻找其发病原因及发病的高危因素。结果河南省新生儿CH筛查平均覆盖率5.93%,确诊CH 109例,发病率0.032%。CH患儿109例甲状腺部位正常,发育良好。在有高血压、糖尿病、畸形或智力低下家族史或母孕期有不良情况者中CH发病率较高。结论河南省CH患儿发病可能与甲状腺的缺如和异位无关,可能为激素的合成障碍或受体缺陷所致。

Objective To investigate the screening state and cause of neonatal congenital hypothyroidism（CH） in Henan province.Me-thods Three hundred and thirty-eight thousands no-choice newborns in the 156 hospitals in Henan province from Jan.1998 to Dec.2004 were received screening.The heel peripheral blood samples were taken and the levels of thyroid-stimulating hormone（TSH） were mea-sured by time-resolved fluoroimmunoassay.Positive newborns were recalled and draw out 2 mL venous blood.The levels of TSH,triiodothyronine（T3） and thyroxine（T4） in serum were detected by direct chemiluminescence.The abnormal criterion was that the level of T3,T4 was under the normal range and the level of TSH was above the normal range.Meanwhile their growth and development,intelligence quotient,related medical examination and family histories were investigated in order to find etiological factors and high risk factors.Results The average coverage rate was 5.93% of neonatal screening for CH in Henan province.One hundrend and nine infants were diagnosed CH.The attack rate was about 0.032%.The site and growth of thyroideas of 109 cases with CH were all normal.There were higher morbidity for pregnant women with unhealthy condition or the families with hypertension,diabetes,deformity or dysnoesia.Conclusions Etiology of newborns with CH in Henan province may be not relate with congenital absence and dystopia of thyroidea,but relate with dyssynthesis and receptor deficiency of hormone.And scientific reference is offered for the further study.