Клинические рекомендации по врожденному гипотиреозу Европейского общества детских эндокринологов (ESPE) и Европейского эндокринологического общества (ESO): основные положения и комментарии
https://doi.org/10.14341/ket12703
Аннотация
Врожденный гипотиреоз - актуальная клиническая проблема в педиатрической практике. Предыдущие Европейские клинические рекомендации были опубликованы в 2014 году. Настоящие клинические рекомендации основаны на данных, опубликованных с января 2013 по начало 2020 года. Основные разделы рекомендаций: результаты неонатального скрининга, диагностика и сроки начала лечения, мониторинг, генетика врожденного гипотиреоза, генетическое консультирование семей.
Об авторах
Е. В. ШрёдерРоссия
Шрёдер Екатерина Владимировна, клинический аспирант, врач детский эндокринолог, Россия; 117036, Москва, ул. Дм. Ульянова, д. 11, eLibrary SPIN: 7997-2501
Т. Ю. Ширяева
Россия
Ширяева Татьяна Юрьевна, к.м.н., eLibrary SPIN: 1322-0042
Е. В. Нагаева
Россия
Нагаева Елена Витальевна, к.м.н., eLibrary SPIN: 4878-7810
О. Б. Безлепкина
Россия
Безлепкина Ольга Борисовна, д.м.н., профессор, eLibrary SPIN: 3884-0945
Список литературы
1. 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: https://doi.org/10.1016/s0022-3476(75)80349-0
2. Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism. Horm Res Paediatr. 2014;81(2):80-103. doi: https://doi.org/10.1159/000358198
3. van Trotsenburg P, Stoupa A, Léger J, et al. Congenital Hypothyroidism: A 2020 — 2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021;31(3):387-419. doi: https://doi.org/10.1089/thy.2020.0333
4. Дедов И.И., Петеркова В.А. Федеральные клинические рекомендации (протоколы) по ведению детей с эндокринными заболеваниями. — М.; 2014. — С. 183-214.
5. Проект клинических рекомендаций «Диагностика и лечение врожденного гипотиреоза». Разработчик клинических рекомендаций: Общественная организация «Российская ассоциация эндокринологов». 2020. Доступно по: https://rae-org.ru/system/files/documents/pdf/klinicheski_rekomendacii_vg_ot_03.06.2020.pdf
6. Swiglo BA, Murad MH, Schünemann HJ, et al. A Case for Clarity, Consistency, and Helpfulness: State-of-the-Art Clinical Practice Guidelines in Endocrinology Using the Grading of Recommendations, Assessment, Development, and Evaluation System. J Clin Endocrinol Metab. 2008;93(3):666-673. doi: https://doi.org/10.1210/jc.2007-1907
7. Дедов И.И., Безлепкина О.Б., Вадина Т.А., и др. Скрининг на врожденный гипотиреоз в Российской Федерации // Проблемы эндокринологии. — 2018. — Т. 64. — №1. — С. 14-20. doi: https://doi.org/10.14341/probl8752
8. McGrath N, Hawkes CP, Mayne P, Murphy NP. Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation. J Pediatr. 2019;205(2):77-82. doi: https://doi.org/10.1016/j.jpeds.2018.09.044
9. LaFranchi SH. Screening Preterm Infants for Congenital Hypothyroidism: Better the Second Time Around. J Pediatr. 2014;164(6):1259-1261. doi: https://doi.org/10.1016/j.jpeds.2014.02.031
10. Fort P, Lifshitz F, Bellisario R, et al. Abnormalities of thyroid function in infants with Down syndrome. J Pediatr. 1984;104:545-549. doi: https://doi.org/10.1016/s0022-3476(84)80544-2
11. Purdy IB, Singh N, Brown WL, et al. Revisiting early hypothyroidism screening in infants with Down syndrome. J Perinatol. 2014;34:936-940. doi: https://doi.org/10.1038/jp.2014.116
12. Olivieri A, Medda E, De Angelis S, et al. High Risk of Congenital Hypothyroidism in Multiple Pregnancies. J Clin Endocrinol Metab. 2007;92(8):3141-3147. doi: https://doi.org/10.1210/jc.2007-0238
13. Perry R, Heinrichs C, Bourdoux P, et al. Discordance of Monozygotic Twins for Thyroid Dysgenesis: Implications for Screening and for Molecular Pathophysiology. J Clin Endocrinol Metab. 2002;87(9):4072-4077. doi: https://doi.org/10.1210/jc.2001-011995
14. Medda E, Vigone MC, Cassio A, et al. Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins? J Clin Endocrinol Metab. 2019;104(12):5765-5779. doi: https://doi.org/10.1210/jc.2019-00900
15. Приказ Минздравсоцразвития России №185 «О массовом обследовании новорожденных детей на наследственные заболевания» от 22.03.2006 г.
16. Trumpff C, De Schepper J, Vanderfaeillie J, et al. Neonatal thyroid-stimulating hormone concentration and psychomotor development at preschool age. Arch Dis Child. 2016;101(12):1100-1106. doi: https://doi.org/10.1136/archdischild-2015-310006
17. Lain SJ, Bentley JP, Wiley V, et al. Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study. Lancet Diabetes Endocrinol. 2016;4(9):756-765. doi: https://doi.org/10.1016/S2213-8587(16)30122-X
18. Vigone MC, Capalbo D, Weber G, Salerno M. Mild Hypothyroidism in Childhood: Who, When, and How Should Be Treated? J Endocr Soc. 2018;2(9):1024-1039. doi: https://doi.org/10.1210/js.2017-00471
19. De Silva A, Jong I, McLean G, et al. The role of scintigraphy and ultrasound in the imaging of neonatal hypothyroidism: 5-year retrospective review of single-centre experience. J Med Imaging Radiat Oncol. 2014;58(4):422-430. doi: https://doi.org/10.1111/1754-9485.12166
20. Keller-Petrot I, Leger J, Sergent-Alaoui A, de Labriolle-Vaylet C. Congenital Hypothyroidism: Role of Nuclear Medicine. Semin Nucl Med. 2017;47(2):135-142. doi: https://doi.org/10.1053/j.semnuclmed.2016.10.005
21. Albert BB, Heather N, Derraik JGB, et al. Neurodevelopmental and Body Composition Outcomes in Children With Congenital Hypothyroidism Treated With High-Dose Initial Replacement and Close Monitoring. J Clin Endocrinol Metab. 2013;98(9):3663-3670. doi: https://doi.org/10.1210/jc.2013-1903
22. Aleksander PE, Brückner-Spieler M, Stoehr A-M, et al. Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2018;103(4):1459-1469. doi: https://doi.org/10.1210/jc.2017-01937
23. Tuhan H, Abaci A, Cicek G, et al. Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment. J Pediatr Endocrinol Metab. 2016;29(2):133-138. doi: https://doi.org/10.1515/jpem-2015-0047.
24. Craven M, Frank GR. Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up? J Pediatr Endocrinol Metab. 2018;31(6):597-600. doi: https://doi.org/10.1515/jpem-2017-0513
25. Saba C, Guilmin-Crepon S, Zénaty D, et al. Early Determinants of Thyroid Function Outcomes in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study. Thyroid. 2018;28(8):959-967. doi: https://doi.org/10.1089/thy.2018.0154
26. Oron T, Lazar L, Ben-Yishai S, et al. Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables. J Clin Endocrinol Metab. 2018;103(12):4428-4436. doi: https://doi.org/10.1210/jc.2018-00362
27. Oren A, Wang MK, Brnjac L, et al. Mild neonatal hyperthyrotrophinaemia: 10-year experience suggests the condition is increasingly common but often transient. Clin Endocrinol (Oxf ). 2013;79(6):832-837. doi: https://doi.org/10.1111/cen.12228
28. Jung JM, Jin HY, Chung ML. Feasibility of an Early Discontinuation of Thyroid Hormone Treatment in Very-Low-Birth-Weight Infants at Risk for Transient or Permanent Congenital Hypothyroidism. Horm Res Paediatr. 2016;85(2):131-139. doi: https://doi.org/10.1159/000443399
29. Korzeniewski SJ, Grigorescu V, Kleyn M, et al. Transient Hypothyroidism at 3-Year Follow-Up among Cases of Congenital Hypothyroidism Detected by Newborn Screening. J Pediatr. 2013;162(1):177-182. doi: https://doi.org/10.1016/j.jpeds.2012.06.050
30. Langham S, Hindmarsh P, Krywawych S, Peters C. Screening for congenital hypothyroidism: comparison of borderline screening cut-off points and the effect on the number of children treated with levothyroxine. Eur Thyroid J. 2013;2:180-186. doi: https://doi.org/10.1159/000350039
31. Kara C, Günindi F, Can Yılmaz G, Aydın M. Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course. J Clin Res Pediatr Endocrinol. 2016;8(2):170-179. doi: https://doi.org/10.4274/jcrpe.2345
32. Ford GA, Denniston S, Sesser D, Skeels MR, LaFranchi SH. Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. Horm Res Paediatr. 2016;86(3):169-177. doi: https://doi.org/10.1159/000448658
33. Kang MJ, Chung HR, Oh YJ, et al. Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. Pediatr Neonatol. 2017;58(5):442-448. doi: https://doi.org/10.1016/j.pedneo.2017.01.002
34. Park IS, Yoon JS, So CH, et al. Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland. Ann Pediatr Endocrinol Metab. 2017;22(2):115-118. doi: https://doi.org/10.6065/apem.2017.22.2.115
35. Zdraveska N, Zdravkovska M, Anastasovska V, et al. Diagnostic reevaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. Endocr Connect. 2018;7(2):278-285. doi: https://doi.org/10.1530/EC-17-0332
36. Fu C, Luo S, Li Y, et al. The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH. Endocr Connect. 2017;6(8):926-934. doi: https://doi.org/10.1530/EC-17-0289
37. Razavi Z, Mohammadi L. Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. Int J Endocrinol Metab. 2017;14(4):e38256. doi: https://doi.org/10.5812/ijem.38256
38. Fernández Ruiz A, García-Guereta L, Benito Bartolomé F, et al. Alteraciones de la función tiroidea en niños con cardiopatía congénita tras la realización de cateterismo con contrastes yodados. Rev Española Cardiol. 2000;53(4):517-524. doi: https://doi.org/10.1016/S0300-8932(00)75122-0
39. Thaker VV, Galler MF, Marshall AC, et al. Hypothyroidism in Infants With Congenital Heart Disease Exposed to Excess Iodine. J Endocr Soc. 2017;1(8):1067-1078. doi: https:/doi.org/10.1210/js.2017-00174
Рецензия
Для цитирования:
Шрёдер Е.В., Ширяева Т.Ю., Нагаева Е.В., Безлепкина О.Б. Клинические рекомендации по врожденному гипотиреозу Европейского общества детских эндокринологов (ESPE) и Европейского эндокринологического общества (ESO): основные положения и комментарии. Клиническая и экспериментальная тиреоидология. 2021;17(2):4-12. https://doi.org/10.14341/ket12703
For citation:
Shreder E.V., Shiryaeva T.Y., Nagaeva E.V., Bezlepkina O.B. Consensus guidelines of congenital hypothyroidism by the European Society for pediatric endocrinology and the European Society for Endocrinology: key points and comments. Clinical and experimental thyroidology. 2021;17(2):4-12. (In Russ.) https://doi.org/10.14341/ket12703

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