Role of neonatal screening in the diagnosis of congenital hypothyroidism in newborns
https://doi.org/10.51523/2708-6011.2024-21-4-17
Abstract
A current problem of medicine is the preservation of the health of every newborn, every child, and the entire child population. The issues of diagnosis, treatment, and prevention of childhood diseases come to the fore, starting from the moment of conception, intrauterine development, and the newborn period.
Thyroid hormones (thyroid gland) largely determine the normal intrauterine and postnatal development of a child, affecting the formation, differentiation, development of organs and systems, especially the central nervous system. Timely diagnosis and treatment of congenital hypothyroidism (CH) is an important social and medical problem worldwide. Introduction of population-based neonatal screening for CH has made it possible to avoid early irreversible brain damage, early mental retardation and to provide thousands of children with normal physical and mental development.
The article describes a clinical case of CH in a newborn with clinical symptoms of progressive multiorgan failure that required hospitalization in the intensive care unit, transfer to level 3 of respiratory support, and administration of cardiotonic drugs. The positive result of neonatal screening for CH (the result was obtained on the 17th day of life) allowed to make the correct diagnosis, prescribe hormone replacement therapy, thus controlling clinical symptoms and preventing irreversible brain changes, severe mental retardation, and disablement of the child.
About the Authors
A. I. ZaryankinaBelarus
Alla I. Zaryankina, Candidate of Medical Sciences, Associate Professor, Head of the Department of Pediatrics with a course of Advanced Training and Retraining
Gomel
L. S. Sergeychik
Belarus
Lilia S. Sergeychik, Senior Lecturer at the Department of Pediatrics with a course of Advanced Training and Retraining
Gomel
E. A. Kozik
Belarus
Elena A. Kozik, Neonatologist at the Pediatric Neonatal Department
Gomel
O. P. Tselekhovich
Belarus
Olga P. Tselekhovich, Head of the Pediatric Department for Newborns
Gomel
References
1. Solntseva, AV. Congenital hypothyroidism in children. Educational method. Manual. Minsk: BSMU; 2016. 16 p. (In Russ.).
2. . Dedov II, Peterkova VA. Handbook of a pediatric endocrinologist. Moskov: LitTerra; 2020. 496 p.
3. Peterkova VA, Bezlepkina OB, Shiryaeva TYu, Vadina TA, Nagaeva EV, Chikulaeva OA, et al. “Clinical recommendations “Congenital hypothyroidism” Problems of endocrinology. 2022;68(2):90-103. (In Russ.). DOI: https://doi.org/10.14341/probl12880
4. Vadina TA. Congenital hypothyroidism: epidemiology, structure and social adaptation: diss. … of a candidate of medical sciences. Moscov; 2011. 26 p. [date of access 2021 June 18]. Available from: https://www.dissercat.com/content/vrozhdennyigipotireoz-epidemiologiya-struktura-i-sotsialnaya-adaptatsiya
5. Dedov II, Bezlepkina OB, Vadina TA, Baibarina EN, Chumakova OV, Karavaeva LV, et al. Screening for congenital hypothyroidism in the Russian Federation. Problems of Endocrinology. 2018;64(1):14-20. (In Russ.). DOI: https://doi.org/10.14341/probl201864114-20
6. Kalinina EA, Solntseva AV, Gusina NB, Zinovik AV. Congenital hypothyroidism: results of neonatal screening in the Republic of Belarus. BSMU is at the forefront of medical science and practice. Minsk: Information Center of the Ministry of Finance; 2023;13(1):93-99. (In Russ.).
7. WHO, UNICEF, and ICCIDD. Progress towards the elimination of Iodine Deficiency Disorders (IDD). Geneva: WHO, WHO/Euro/NUT; 1999:1-33.
8. Mokhort TV, Kolomiets ND, Petrenko SV, Fedorenko EV, Mokhort AG. Dynamic monitoring of iodine sufficiency in Belarus: results and problems. Problems of Endocrinology. 2018;64(3):170-179. (In Russ.). DOI: https://doi.org/10.14341/probl8686
9. Gusina NB, Zinovik AV, Kolkova TV. The results of population neonatal screening for congenital hypothyroidism reflect the effect of iodine prophylaxes in Belarus. Clinical and experimental thyroidology. 2010;6(2):40-45. (In Russ.).
10. Park SM, Chatterjee VKK. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-389. DOI: https://doi.org/10.1136/jmg.2004.024158
11. LaFranchi SH. Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab. 2011;96:2959-2967. DOI: https://doi.org/10.1210/jc.2011-1175
12. Gruters A, Krude H. Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 2012;8:104-113. DOI: https://doi.org/10.1089/thy.2014.0460.0.1038/nrendo.2011.160
13. Makretskaya N.A. Molecular genetic basis of congenital hypothyroidism: analysis using high-throughput parallel sequencing methods: dissertation of a candidate of medical sciences. Moscov; 2018. 28 p. [date of access 2024 June 18]. Available from: https://www.endocrincentr.ru/specialists/science/ dissertacionnyy-sovet/dissertacii/molekulyarno-geneticheskieosnovy-vrozhdennogo-gipotireoza-analiz-s
14. Beck-Peccoz P, Rodari G, Giavoli C, Lania A. Central hypothyroidism — a neglected thyroid disorder. Nature Reviews Endocrinology. 2017;13(10):588-598. DOI: https://doi.org/10.1038/nrendo.2017.47
15. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Current Opinion in Pediatrics. 2011;23:421-428. DOI: https://doi.org/10.1097/MOP.0b013e32834726a4
16. Fernandez LP, Lopez-Marquez A, Santisteban P. Thyroid transcription factors in development, differentiation and disease. Nature Reviews Endocrinology. 2015;11:29-42. DOI: https://doi.org/10.1038/nrendo.2014.186
17. Peters C, van Trotsenburg ASP, Schoenmakers N. Diagnosis of endocrine disease: Congenital hypothyroidism: update and perspectives. European Journal of Endocrinology. 2018;179:297-317. DOI: https://doi.org/10.1530/EJE-18-0383
18. Smirnov VV, Ushakov AI. Timely diagnosis and treatment of hypothyroidism is the basis for healthy mental and physical development of children. Attending doctor. 2020;(1):10-16. (In Russ.). DOI: https://doi.org/10.26295/OS.2019.77.67.002
19. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Current Opinion in Pediatrics. 2011;23:421-428. DOI: https://doi.org/10.1097/MOP.0b013e32834726a4
20. Fernandez LP, Lopez-Marquez A, Santisteban P. Thyroid transcription factors in development, differentiation and disease. Nature Reviews Endocrinology. 2015;11:29-42. DOI: https://doi.org/10.1038/nrendo.2014.186
21. Peters C, van Trotsenburg ASP, Schoenmakers N. Diagnosis of endocrine disease: Congenital hypothyroidism: update and perspectives. European Journal of Endocrinology. 2018;179:297-317. DOI: https://doi.org/10.1530/EJE-18-0383
22. Szinnai G. Clinical genetics of congenital hypothyroidism. Endocrine Development. 2014;26:60-78. DOI: https://doi.org/10.1159/000363156
23. Park IS, Yoon, JS, So CH, et al. Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland. Annals of Pediatric Endocrinology & Metabolism. 2017;22(2):115. DOI: https://doi.org/10.6065/apem.2017.22.2.115
24. Ford, G, Lafranchi S. HScreening for congenital hypothyroidism: A worldwide view of strategies. Best Practice and Research: Clinical Endocrinology and Metabolism. 2014;28(2):175-187. DOI: https://doi.org/10.1016/j.beem.2013.05.008
25. Jonklaas J, Bianco AC, Bauer AJ, Burman KD, Cappola AR, Celi FS, et al.; American Thyroid Association Task Force on Thyroid Hormone Replacement. Guidelines for the treatment of hypothyroidism: prepared by the american thyroid association task force on thyroid hormone replacement. Thyroid. 2014 Dec;24(12):1670-751. DOI: https://doi.org/10.1089/thy.2014.0028
26. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, et al. ESPE-PES-SLEP-JSPE-APEG-APPESISPAE; Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. DOI: https://doi.org/10.1210/jc.2013-1891
Review
For citations:
Zaryankina A.I., Sergeychik L.S., Kozik E.A., Tselekhovich O.P. Role of neonatal screening in the diagnosis of congenital hypothyroidism in newborns. Health and Ecology Issues. 2024;21(4):156-166. (In Russ.) https://doi.org/10.51523/2708-6011.2024-21-4-17