Neonatal screening and clinical analysis for congenital hypothyroidism / 中华内分泌代谢杂志

ABSTRACT

Objective　To develop the newborn screening and treatment for congenital hypothyroidism (CH) in order to prevent the children from growth and mental retardation and to improve the population quality in China. Methods　TSH value in the dried-blood spot speciments on the filter papter was measured by time-resolved fluorescence immunoassay (Tr-FIA). Clinical analysis for the CH patients was performed. Results　Among 315　　472 neonates screened for CH, 66 (47 overt and 19 subclinical) cases of CH were confirmed and the incidence of CH was 1/4　　780. Among the 47 typical cases, 2 infants were recognized with transient hypothyroidism, 2 infants were not reevaluated because of below 2 year old, 1 infant died, 1 case gave up treatment, the rest 41 infants were permanent CH. Among the 19 atypical cases, 7 cases were recognized with permanent CH, 4 cases with transient disease, 5 cases with hyperthyrotropinemia, 3 cases were not evaluated because of below 2 years old at that time. The patients followed in the clinic are all currently with normal growth and intellectual development. Conclusion　Our center is the first labolatory to screen CH with Tr-FIA in China. Tr-FIA is an ideal non-radioactive technology. The typical patients as well as atypical cases should be all treated using L-thyroxine. It is essential to arrange a trial treatment for confirming the diagnostic results from screening and to decide whether they need a lifetime treatment.