关键词: 先天性甲状腺功能减低症, 新生儿筛查, 治疗, 随访

Abstract: Objective To summarize and analyze the screening result,the treatment and the follow-up investigation of the congenital hypothyroidism (CH) of the newborn screening center of our hospital from 2012 to 2014. Methods Heel blood after the birth of 72 hours were collected and were maked into dried blood filter,then the level of the thyrotropic hormone (TSH) of dried blood spot on filter paper was detected by using the method of time-resolved fluorescence immunoassay.TSH>9 μU/ml,which was the positive sign.The patients who had the positive symptom were recalled and sampled the intravenous blood,and a definite diagnosis was made by using the chemiluminescence immunoassay to test the five items of thyroid function (TSH,T3,T4,FT3,FT4). Results For screening 131 066 cases,there were 62 cases made a definite diagnosis.The morbidity was 0.47‰.They were given replacement therapy by taking levothyrocine (L-T4) immediately.In 42 cases of follow-up investigation,there were normal thyroid function,with no difference on physical growth and intelligence comparing with the normal aged children. Conclusion Screening the newborn,normative hormone replacement therapy as soon as possible and long-term follow-up monitoring can make the CH children avoiding irreversible damage to the physique and intelligence,which is also of great significance to improve the prognosis and survival quality.

Key words: congenital hypothyroidism, newborn screening, treatment, follow-up