Neonatal screening for congenital hypothyroidism in Udmurt Republic:solved and unsolved questions

Abstract

Neonatal screening for congenital hypothyroidism (CH) has proved its efficacy as a method of early diagnostics of the disorder. It helps to start treatment on time and prevent disability. The estimation of arrangement and efficacy of neonatal screening for CH in the scale of a region proved to be actual and determined the purpose of the research. Neonatal screening for CH in the Udmurt Republic (UR) has been carried out since 1995. By the beginning of 2011 twenty two thousand four hundred and ninety one children have been examined. The disease was revealed and confirmed in 63 newborns. The incidence of CH is 1:3532 neonates. Before 2005 only 64,3% of neonates underwent screening procedure, while since 2005 – 99,0% of them. From 1995 till 2004 (the first stage) seven cases of late (retarded) diagnostics of the CH were registered while since 2005 the diagnosis of CH has been made basing on the findings of screening in all cases. Nowadays general temporal characteristics of screening, the average terms of beginning the treatment for CH in the Udmurt Republic correspond to required indices. Seventy one patients with CH were included into the republican register. Prevalence of the disease made 22,9 per 100 000 children from 0 to17 years. Stable clinico-metabolic compensation was reached in 75% of patients. Physical, neuro(psychic and sexual development of them, as well as the indices of thyroid function corresponded to the age norms. In the majority of cases diagnosis was made according to the data of neonatal screening, which allowed to reach more optimal indices of medico(social adaptation in comparison with those patients whose diagnosis was made basing on clinical symptomatology and the treatment was taken up much later.