Abstract: Objective To know the early screening, positive cut-off value and treatment of congenital hypothyroidism (CH) in Ankang city, and to evaluate the efficacy. Methods The neonates in Ankang from June 2010 to December 2012 were screened for CH, the positive cases were recalled for confirm diagnosis by detecting the serum thyroid stimulating hormone (TSH), FT4 by an automated immunoassay analyzer.The results of TSH in concentration dried-blood spot specimens on filter paper were analyzed by statistical methods to determine positive cut-off value of TSH.The children with CH were followed up by receiving levothyroxine, baby length, weight, and head circumference at 6 months and 12 months of first filial generation were measured, after treatments.Then the infants' intelligence was evaluated respectively in the 12th months and compared with those in normal children. Results A total of 54 306 newborns were screened, screening ratio equaled to 81.38%, and recall rate of 91.18%, diagnosed with hypothyroidism in 32 cases, the total incidence of 1/1 697.The positive cut-off value of TSH for screening of CH of newborn in Ankang city was 7.8 μU/mL.After treatment, all the patients' development and intelligence got the normal level (P>0.05).None of 28 cases who had reached the age of 1 had mental retardation, all the patients were discharged.The rate of some domain on the development state of marginalization was slight high. Conclusions There are high incidence in CH in Ankang city.Timely, effectively and safely treatment and instruction as follow on the children diagnosed with hypothyroidism can improve the outcome instruction.The TSH positive cut-off value of CH screening in Ankang city should be adjusted to 7.8 μU/mL, to reduce missed diagnosis.

Key words: congenital hypothyroidism, neonatal screening, positive cut-off value, early treatment

摘要： 目的 了解安康市先天性甲状腺功能减低症(congenital hypothyroidism, CH)筛查状况、阳性切值和对患儿的治疗与评价。方法 对安康市2010年6月-2012年12月出生的新生儿进行先天性甲低筛查, 筛查阳性患儿召回测定TSH、FT4以确诊;对筛查中正常新生儿干血片TSH结果进行统计学分析, 确定阳性切值;诊断CH的患儿口服左旋甲状腺激素治疗, 治疗后于6月龄、1岁时测定其体重、身长、头围, 于1岁时采用Gecell智能发育量表测定智力发育商, 与同年龄同性别正常儿童比较。结果 筛查新生儿54 306例, 筛查率81.38%, 召回率91.18%, 确诊CH 32例, 发病率1/1 697。确定先天性甲低筛查阳性切值为7.8 μU/ml。经过治疗CH患儿生长发育达到正常儿童水平(P＞0.05), 满1周岁CH患儿28例, 无一例发生智力低下, 但在部分能区发育边缘状态比例较高。结论 安康市先天性甲低发病率高;对确诊的CH患儿实施及时、规范、安全地治疗和随访指导可以有效改善患儿预后;目前安康市先天性甲低筛查阳性切值需要调整为7.8 μU/mL, 以减少漏诊。

关键词: 先天性甲状腺功能减低症, 新生儿疾病筛查, 阳性切值, 早期治疗