Screening for congenital hypothyroidism in the Russian Federation

Background. Neonatal screening for congenital hypothyroidism (CH) allows the timely diagnosis of disease and onset of replacement therapy. Analytical research in the field of health care provides the basis for making managerial decisions, in particular by public authorities.

Objective — the study objective was to analyze the results of neonatal screening for congenital hypothyroidism in the Russian Federation.

Material and methods. We analyzed reports of local health authorities (LHAs) on the results of activities of regional medical and genetic services, which were monthly submitted to the Ministry of Health of the Russian Federation. The reports included the number of newborns, examined newborns, and newly diagnosed CH cases.

Results. According to the results of neonatal screening, the rate of CH detection in the Russian Federation was 1 case per 3,617 newborns (maximum, 1 per 2379; minimum, 1 per 4752 in different federal districts). The coverage of neonatal screening for CH in the Russian Federation varies by years and regions, from 67.9% (1997) to 99.8% (2012) and from 81.7% (North Caucasian Federal District) to 99.9% (Central Federal District). With the percentage of newborn screening coverage more than 70%, each additional coverage percent results in detection of 6—7 new CH cases.

Conclusion. The conducted analysis indicates the need for further studying the features of congenital hypothyroidism incidence in different regions of the Russian Federation and improving organizational processes of neonatal screening for CH.

congenital hypothyroidism, neonatal screening, TSH (thyroid-stimulating hormone), thyroxine, Russian Federation

1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32:338-343.

2. Dussault JH, Coulombe P, Laberge C, et al. Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr. 1975;86(5):670-674. doi: 10.1016/s0022-3476(75)80349-0

3. Fisher DA, Burrow GN, Dussault JH, et al. Recommendations for screening programs for congenital hypothyroidism. Am J Med. 1976;61(6):932-934. doi: 10.1016/0002-9343(76)90417-4

4. Newborn committee european thyroid association. Neonatal screening for congenital hypothyroidism in Europe. Eur J Endocrinol. 1979;92(1 Suppl):NP-S29. doi: 10.1530/acta.0.090S0NP

5. Delange F, Beckers C, Hofer R, et al. Progress report on neonatal screening for congenital hypothyroidism in Europe. In: Burrow GN, Dussault JH, editors. Neonatal thyroid screening. New York: Raven Press; 1980;107-131.

6. Fisher DA. Second international conference on neonatal thyroid screening: progress report. J Pediatr. 1983;102(5):653-654. doi: 10.1016/s0022-3476(83)80228-5

7. Delange F. Neonatal screening for congenital hypothyroidism results and perspectives. Horm Res. 1997;48(2):51-61. doi: 10.1159/000185485

8. Скрининг программа ранней диагностики и лечения врожденного гипотиреоза у детей. Методические рекомендации. / Под ред. Дедова И.И., Петерковой В.А., Безлепкиной О.Б. — М. 1996. [Dedov II, Peterkova VA, Bezlepkina OB, editors. Skrining programma ranney diagnostiki i lecheniya vrozhdennogo gipotireoza u detey. Guidelines. Moscow. 1996. (In Russ.)].

9. Врожденный гипотиреоз у детей. Национальный скрининг, диагностика и лечение. Методические рекомендации. / Под ред. Дедова И.И., Петерковой В.А., Безлепкиной О.Б. — М. 2006. [Dedov II, Peterkova VA, Bezlepkina OB, editors. Vrozhdennyy gipotireoz u detey. Natsional’nyy skrining, diagnostika i lechenie. Guidelines. Moscow. 2006. (In Russ.)].

10. Федеральные клинические рекомендации (протоколы) по ведению детей с эндокринными заболеваниями. / Под ред. Дедова И.И., Петерковой В.А. — М.: Практика; 2014. [Dedov II, Peterkova VA, editors.Federal’nye klinicheskie rekomendatsii (protokoly) po vedeniyu detey s endokrinnymi zabolevaniyami. Moscow: Praktika; 2014. (In Russ.)].

11. Ходунова A.A., Байков А.Д., Безлепкина О.Б., Петеркова В.А. Скрининг врожденного гипотиреоза в Российской Федерации. / Всероссийская научно-практическая конференция «Скрининг врожденного гипотиреоза в РФ. Опыт, проблемы, пути оптимизации». М. 2005. [Hodunova AA, Baikov AD, Bezlepkina OB, Peterkova VA. Skrining vrozhdennogo gipotireoza v Rossiyskoy Federatsii. In: Proceedings of the Russian Scientific-Practical Conference «Skrining vrozhdennogo gipotireoza v RF. Opyt, problemy, puti optimizatsii». Moscow. 2005. (In Russ.)].

12. Вадина Т.А. Врожденный гипотиреоз: эпидемиология, структура и социальная адаптация: Дис. … канд. мед. наук. — М. 2011. [Vadina TA. Congenital hypothyroidism: epidemiology, structure and social adaptation. Moscow. 2011. (In Russ.)].

13. Климентьева М.М. Эффективность ранней диагностики и реабилитации детей с врожденным гипотиреозом: Дис. … канд. мед. наук. — Пермь. 2006. [Klimentieva MM. Effektivnost’ ranney diagnostiki i reabilitatsii detey s vrozhdennym gipotireozom. [dissertation] Perm’. 2006. (In Russ.)].

14. Матулевич С.А. Массовый скрининг новорожденных на наследственные болезни обмена как часть системы медико-генетической помощи населению: Дис. … д-ра мед. наук. — M. 2009. [Matulevich SA. Massovyy skrining novorozhdennykh na nasledstvennye bolezni obmena kak chast’ sistemy mediko-geneticheskoy pomoshchi naseleniyu. [dissertation] Moscow. 2009. (In Russ.)].

15. Leger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99(2):363-384. doi: 10.1210/jc.2013-1891

16. Ратникова Т.А. Анализ панельных данных в пакете «STATA». — М. 2004. [Ratnikova TA. Analiz panel’nykh dannykh v pakete «STATA».Moscow. 2004. (In Russ.)].