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

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