problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201460653-66problendo-7056Research ArticleСтатьиArticlesФедеральные клинические рекомендации по диагностике и лечению врожденного гипотиреоза у детейThe federal clinical recommendations on diagnostics and treatment of congenital hypothyroidism in the childrenЧикулаеваО АChikulaevaO Apost@endocrincentr.ruФГБУ «Эндокринологический научный центр» Минздрава России, МоскваEndocrinology Research Centre, Moscow201415122014606ТОМ 60, №6 (2014)5366Copyright © Чикулаева О.А., 20142014Чикулаева О.А.Chikulaeva O.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/7056

Врожденный гипотиреоз является одним из частых врожденных заболеваний щитовидной железы. Недостаток тиреоидных гормонов в значительной степени тормозит развитие нервной системы и психомоторные функции новорожденного ребенка. Ранняя диагностика и своевременно начатое лечение новорожденных позволяют значительно улучшить показатели интеллектуального развития ребенка. Для широкого обсуждения предлагается проект клинических рекомендаций по диагностике и лечению врожденного гипотиреоза у детей.

Congenital hypothyroidism is a cause of frequent inborn thyroid disorders. The deficiency of thyroid hormones markedly slows down the development of the nervous system and psychomotor functions of the newborn infant. Early diagnostics and well-timed beginning of the treatment of this condition make it possible to significantly improve the mental development of the child. This communication proposes the project of clinical recommendations on diagnostics and treatment of congenital hypothyroidism in the children for the extensive discussion.

врожденный гипотиреозщитовидная железаскринингноворожденныеcongenital hypothyroidismthyroid glandscreeningnewborn infantsReferencesAmerican Academy of Pediatrics AAP Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health. Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines. Pediatrics. 1993;91(6):1203-1209.American Academy of Pediatrics AAP Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health. Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines. Pediatrics. 1993;91(6):1203-1209.Hashemipour M, Hovsepian S, Kooshki A, Afshari M, Ayyad A. The relation between serum and filter paper TSH level in neonates with congenital hypothyroidism. Advanced Biomedical Research. 2014;3(1):23. doi: 10.4103/2277-9175.124663Hashemipour M, Hovsepian S, Kooshki A, Afshari M, Ayyad A. The relation between serum and filter paper TSH level in neonates with congenital hypothyroidism. Advanced Biomedical Research. 2014;3(1):23. doi: 10.4103/2277-9175.124663Jesús B, Jóse Ramón A-F, Lidia C-F, Colón C, Cabanas P, Heredia C, et al. Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for Tsh. Journal of Clinical Research in Pediatric Endocrinology. 2011;3(4):208-211. doi: 10.4274/jcrpe.448Jesús B, Jóse Ramón A-F, Lidia C-F, Colón C, Cabanas P, Heredia C, et al. Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for Tsh. Journal of Clinical Research in Pediatric Endocrinology. 2011;3(4):208-211. doi: 10.4274/jcrpe.448Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J. Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors. The Journal of Clinical Endocrinology & Metabolism. 2001;86(5):2009-2014. doi: 10.1210/jcem.86.5.7501Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J. Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors. The Journal of Clinical Endocrinology & Metabolism. 2001;86(5):2009-2014. doi: 10.1210/jcem.86.5.7501Congenital Hypothyroidism: Initial Clinical Referral Standards and Guidelines. UK Newborn Screening Programme Centre; 1 April 2013. Available from: http://www.newbornbloodspot.screening.nhs.uk/Congenital Hypothyroidism: Initial Clinical Referral Standards and Guidelines. UK Newborn Screening Programme Centre; 1 April 2013. Available from: http://www.newbornbloodspot.screening.nhs.uk/Deladoëy J, Bélanger N, Van Vliet G. Random Variability in Congenital Hypothyroidism from Thyroid Dysgenesis over 16 Years in Québec. The Journal of Clinical Endocrinology & Metabolism. 2007;92(8):3158-3161. doi: 10.1210/jc.2007-0527Deladoëy J, Bélanger N, Van Vliet G. Random Variability in Congenital Hypothyroidism from Thyroid Dysgenesis over 16 Years in Québec. The Journal of Clinical Endocrinology & Metabolism. 2007;92(8):3158-3161. doi: 10.1210/jc.2007-0527Fugazzola L, Persani L, Vannucchi G, Carletto M, Mannavola D, Vigone MC, et al. Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy. European Journal of Nuclear Medicine and Molecular Imaging. 2007;34(9):1498-1503. doi: 10.1007/s00259-007-0377-6Fugazzola L, Persani L, Vannucchi G, Carletto M, Mannavola D, Vigone MC, et al. Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy. European Journal of Nuclear Medicine and Molecular Imaging. 2007;34(9):1498-1503. doi: 10.1007/s00259-007-0377-6Gaudino R, Garel C, Czernichow P, Leger J. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clinical Endocrinology. 2005;62(4):444-448. doi: 10.1111/j.1365-2265.2005.02239.xGaudino R, Garel C, Czernichow P, Leger J. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clinical Endocrinology. 2005;62(4):444-448. doi: 10.1111/j.1365-2265.2005.02239.xGlorieux J, Dussault J, Van Vliet G. Intellectual development at age 12 years of children with congenital hypothyroidism diagnosed by neonatal screening. The Journal of Pediatrics. 1992;121(4):581-584. doi: 10.1016/s0022-3476(05)81150-3Glorieux J, Dussault J, Van Vliet G. Intellectual development at age 12 years of children with congenital hypothyroidism diagnosed by neonatal screening. The Journal of Pediatrics. 1992;121(4):581-584. doi: 10.1016/s0022-3476(05)81150-3Jones JH, Donaldson MDC. Audit of Initial Management of Congenital Hypothyroidism in the United Kingdom - Comparison of UK Practice with European and UK Guidelines. Journal of Pediatric Endocrinology and Metabolism. 2009;22(11). doi: 10.1515/jpem.2009.22.11.1017Jones JH, Donaldson MDC. Audit of Initial Management of Congenital Hypothyroidism in the United Kingdom - Comparison of UK Practice with European and UK Guidelines. Journal of Pediatric Endocrinology and Metabolism. 2009;22(11). doi: 10.1515/jpem.2009.22.11.1017Jones JH, Gellen B, Paterson WF, Beaton S, Donaldson MDC. Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. Archives of Disease in Childhood. 2008;93(11):940-944. doi: 10.1136/adc.2007.120618Jones JH, Gellen B, Paterson WF, Beaton S, Donaldson MDC. Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. Archives of Disease in Childhood. 2008;93(11):940-944. doi: 10.1136/adc.2007.120618Jones JH. Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. Archives of Disease in Childhood. 2006;91(8):680-685. doi: 10.1136/adc.2005.088427Jones JH. Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. Archives of Disease in Childhood. 2006;91(8):680-685. doi: 10.1136/adc.2005.088427Mathai S, Cutfield WS, Gunn AJ, Webster D, Jefferies C, Robinson E, et al. A novel therapeutic paradigm to treat congenital hypothyroidism. Clinical Endocrinology. 2008;69(1):142-147. doi: 10.1111/j.1365-2265.2008.03172.xMathai S, Cutfield WS, Gunn AJ, Webster D, Jefferies C, Robinson E, et al. A novel therapeutic paradigm to treat congenital hypothyroidism. Clinical Endocrinology. 2008;69(1):142-147. doi: 10.1111/j.1365-2265.2008.03172.xOlivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al. A Population-Based Study on the Frequency of Additional Congenital Malformations in Infants with Congenital Hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991–1998). The Journal of Clinical Endocrinology & Metabolism. 2002;87(2):557-562. doi: 10.1210/jcem.87.2.8235Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al. A Population-Based Study on the Frequency of Additional Congenital Malformations in Infants with Congenital Hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991–1998). The Journal of Clinical Endocrinology & Metabolism. 2002;87(2):557-562. doi: 10.1210/jcem.87.2.8235Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MDC. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Archives of Disease in Childhood. 2006;91(12):972-976. doi: 10.1136/adc.2006.096776Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MDC. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Archives of Disease in Childhood. 2006;91(12):972-976. doi: 10.1136/adc.2006.096776Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet Journal of Rare Diseases. 2010;5(1):17. doi: 10.1186/1750-1172-5-17Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet Journal of Rare Diseases. 2010;5(1):17. doi: 10.1186/1750-1172-5-17Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Revised Guidelines for Neonatal Screening Programmes for Primary Congenital Hypothyroidism. Hormone Research. 1999;52(1):49-52. doi: 10.1159/000023433Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Revised Guidelines for Neonatal Screening Programmes for Primary Congenital Hypothyroidism. Hormone Research. 1999;52(1):49-52. doi: 10.1159/000023433American Academy of Pediatrics, Rose SR; Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK. Update of Newborn Screening and Therapy for Congenital Hypothyroidism. Pediatrics. 2006;117(6):2290-2303. doi: 10.1542/peds.2006-0915American Academy of Pediatrics, Rose SR; Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK. Update of Newborn Screening and Therapy for Congenital Hypothyroidism. Pediatrics. 2006;117(6):2290-2303. doi: 10.1542/peds.2006-0915Salerno M, Militerni R, Bravaccio C, Micillo M, Capalbo D, Di Maio S, et al. Effect of Different Starting Doses of Levothyroxine on Growth and Intellectual Outcome at Four Years of Age in Congenital Hypothyroidism. Thyroid. 2002;12(1):45-52. doi: 10.1089/105072502753451968Salerno M, Militerni R, Bravaccio C, Micillo M, Capalbo D, Di Maio S, et al. Effect of Different Starting Doses of Levothyroxine on Growth and Intellectual Outcome at Four Years of Age in Congenital Hypothyroidism. Thyroid. 2002;12(1):45-52. doi: 10.1089/105072502753451968Selva KA, Harper A, Downs A, Blasco PA, LaFranchi SH. Neurodevelopmental Outcomes in Congenital Hypothyroidism: Comparison of Initial T4 Dose and Time to Reach Target T4 and TSH. The Journal of Pediatrics. 2005;147(6):775-780. doi: 10.1016/j.jpeds.2005.07.024Selva KA, Harper A, Downs A, Blasco PA, LaFranchi SH. Neurodevelopmental Outcomes in Congenital Hypothyroidism: Comparison of Initial T4 Dose and Time to Reach Target T4 and TSH. The Journal of Pediatrics. 2005;147(6):775-780. doi: 10.1016/j.jpeds.2005.07.024Selva KA, Mandel SH, Rien L, Sesser D, Miyahira R, Skeels M, et al. Initial treatment dose of L-thyroxine in congenital hypothyroidism. The Journal of Pediatrics. 2002;141(6):786-792. doi: 10.1067/mpd.2002.128887Selva KA, Mandel SH, Rien L, Sesser D, Miyahira R, Skeels M, et al. Initial treatment dose of L-thyroxine in congenital hypothyroidism. The Journal of Pediatrics. 2002;141(6):786-792. doi: 10.1067/mpd.2002.128887Skordis N, Toumba M, Savva SC, Erakleous E, Topouzi M, Vogazianos M, et al. High Prevalence of Congenital Hypothyroidism in the Greek Cypriot Population: Results of the Neonatal Screening Program 1990-2000. Journal of Pediatric Endocrinology and Metabolism. 2005;18(5):453-462. doi: 10.1515/jpem.2005.18.5.453Skordis N, Toumba M, Savva SC, Erakleous E, Topouzi M, Vogazianos M, et al. High Prevalence of Congenital Hypothyroidism in the Greek Cypriot Population: Results of the Neonatal Screening Program 1990-2000. Journal of Pediatric Endocrinology and Metabolism. 2005;18(5):453-462. doi: 10.1515/jpem.2005.18.5.453

The authors declare that there are no conflicts of interest present.