Clinical guideline of «congenital hypothyroidism»
V. A. Peterkova,
O. B. Bezlepkina,
T. U. Shiryaeva,
T. A. Vadina,
E. V. Nagaeva,
O. A. Chikulaeva,
E. V. Shreder,
M. B. Konuhova,
N. A. Makretskaya,
E. A. Shestopalova,
V. B. Mitkina https://doi.org/10.14341/probl12880
Abstract
Congenital hypothyroidism is an important issue of pediatric endocrinology at which timely diagnosis and treatment can prevent the development of severe cases of the disease. The developed clinical guidelines are a working tool for a practicing physician. The target audience is pediatric endocrinologists and pediatricians. They briefly and logically set out the main definition of the disease, epidemiology, classification, methods of diagnosis and treatment, based on the principles of evidence-based medicine.
About the Authors
V. A. Peterkova
Endocrinology Research Center
Russian Federation
Russian Federation
Valentina A. Peterkova, MD
Moscow
SPIN-код: 4009-2463
O. B. Bezlepkina
Endocrinology Research Center
Russian Federation
Russian Federation
Olga B. Bezlepkina, MD
Moscow
SPIN-код: 3884-0945
T. U. Shiryaeva
Endocrinology Research Center
Russian Federation
Russian Federation
Olga A. Chikulaeva, MD
Moscow
SPIN-код: 3290-1518
T. A. Vadina
Endocrinology Research Center
Russian Federation
Russian Federation
Tatiana A. Vadina, MD
11 Dm. Ulyanova street, 117292, Moscow
SPIN-код: 8006-9139
E. V. Nagaeva
Endocrinology Research Center
Russian Federation
Russian Federation
Elena V. Nagaeva, MD
Moscow
SPIN-код: 478-7810
O. A. Chikulaeva
Endocrinology Research Center
Russian Federation
Russian Federation
Olga A. Chikulaeva, MD
Moscow
SPIN-код: 3290-1518
E. V. Shreder
Endocrinology Research Center
Russian Federation
Russian Federation
Ekaterina V. Shreder, MD
Moscow
SPIN-код: 7997-2501
M. B. Konuhova
Moscow Neonatal screening center, Morozovskaya Children’s Hospital
Russian Federation
Russian Federation
Marina B. Konuhova, MD
Moscow
SPIN-код: 3497-8855
N. A. Makretskaya
Endocrinology Research Center
Russian Federation
Russian Federation
Nina A. Makretskaya, MD
Moscow
SPIN-код: 4467-7880
E. A. Shestopalova
Medical Genetic Research Bochkov’s center
Russian Federation
Russian Federation
Elena A. Shestopalova, MD
Moscow
SPIN-код: 5852-3561
V. B. Mitkina
Moscow Neonatal screening center, Morozovskaya Children’s Hospital
Russian Federation
Russian Federation
Valentina B. Mitkina, MD
Moscow
SPIN-код: 7900-6836
References
1. Dedov II, Peterkova VA. Spravochnik detskogo endokrinologa. Moscow: Litterra; 2020. P. 91-103. (In Russ.).
2. Vadina TA. Vrozhdennyi gipotireoz: epidemiologiya, struktura i sotsial’naya adaptatsiya [dissertation]. Moscow: 2011. 26 p. (In Russ.).
3. Sinnai G. Detskaya tireoidologiya. Ed by Peterkovoi VA. Moscow: 2016. 304 p. (In Russ.).
4. 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 and Endocrinology. 2016;4:756-765. doi: https://doi.org/10.1016/S2213-8587(16)30122-X
5. Zwaveling-Soonawala N, van Trotsenburg AS, Verkerk PH. The severity of congenital hypothyroidism of central origin should not be underestimated. Journal of Clinical Endocrinology and Metabolism. 2015;100:E297-E300. doi: https://doi.org/10.1210/jc.2014-2871
6. Rovet JF. The role of thyroid hormones for brain development and cognitive function. Endocrine Development. 2014;26:26-43. doi: https://doi.org/10.1159/000363153
7. Dedov II, Bezlepkina OB, Vadina TA, 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
8. Barry Y, Bonaldi C, Goulet V, et al. Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis. Annals of Epidemiology. 2016;26(100):E4-105. doi: https://doi.org/10.1016/j.annepidem.2015.11.005
9. Deladoëy J, Ruel J, Giguère Y, et al. Is the incidence of congenital hypothyroid-ism really increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab. 2011;96:2422-2429. doi: https://doi.org/10.1210/jc.2011-1073
10. 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
11. 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
12. Makretskaya NA. Molekulyarno-geneticheskie osnovy vrozhdennogo gipotireoza: analiz s primeneniem metodov vysokoeffktivnogo parallel’nogo sekvenirovaniya [dissertation]. Moscow: 2018. 28 p. (In Russ.).
13. Beck-Peccoz P, Rodari G, Giavoli C, et al. Central hypothyroidism — a neglected thyroid disorder. Nature Reviews Endocrinology. 2017;13:588-598. doi: https://doi.org/10.1038/nrendo.2017.47
14. 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
15. Fernández LP, López-Márquez 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
16. 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
17. Szinnai G. Clinical genetics of congenital hypothyroidism. Endocrine Development. 2014;26:60-78. doi: https://doi.org/10.1159/000363156
18. 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
19. 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: https://doi.org/10.1210/jc.2013-1891
20. Nicholas AK, Jaleel S, Lyons G, et al. Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. Clinical Endocrinology. 2017;86:410-418. doi: https://doi.org/10.1111/cen.13149
21. Hermanns P, Couch R, Leonard N, et al. A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey. Hormone Research in Paediatrics. 2014;82:201-205. doi: https://doi.org/10.1159/000362413
22. Tenenbaum-Rakover Y, Almashanu S, Hess O, et al. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015;25:292-299. doi: https://doi.org/10.1089/thy.2014.0311
23. García M, González de Buitrago J, Jiménez-Rosés M, et al. Central hypothyroidism due to a TRHR mutation causing impaired ligand affinity and transactivation of Gq. Journal of Clinical Endocrinology and Metabolism. 2017;102:2433-2442. doi: https://doi.org/10.1210/jc.2016-3977
24. Zwaveling-Soonawala N, van Trotsenburg ASP, Verkerk PH. TSH and FT4 Concentrations in congenital central hypothyroidism and mild congenital thyroidal hypothyroidism. Journal of Clinical Endocrinology and Metabolism. 2018;103:1342-1348. doi: https://doi.org/10.1210/jc.2017-01577
25. Ahmad N, Irfan A, Al Saedi S. Congenital hypothyroidism: Screening, diagnosis, management, and outcome. J Clin Neonatol. 2017;6(2):64-70. doi: https://doi.org/10.4103/jcn.JCN_5_17
26. Corbetta C, Weber G, Cortinovis F, et al. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clinical Endocrinology. 2009;71:739-745. doi: https://doi.org/10.1111/j.1365-2265.2009.03568.x
27. Langham S, Hindmarsh P, Krywawych S, et al. Screening for congenital hypothyroidism: comparison of borderline screening cut-off points and the effect on the number of children treated with levothyroxine. European Thyroid Journal. 2013;2:180-186. doi: https://doi.org/10.1159/000350039
28. Peters C, Brooke I, Heales S, et al. Defining the newborn blood spot screening reference interval for TSH: impact of ethnicity. Journal of Clinical Endocrinology and Metabolism. 2016;101:3445-3449. doi: https://doi.org/10.1210/jc.2016-1822
29. Ford G. LaFranchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Practice and Research Clinical Endocrinology and Metabolism. 2014;28:175-187. doi: https://doi.org/10.1016/j.beem.2013.05.008
30. Kilberg MJ, Rasooly IR, LaFranchi SH et al. Newborn screening in the US may miss mild persistent hypothyroidism. Journal of Pediatrics. 2018;192:204-208. doi: https://doi.org/10.1016/j.jpeds.2017.09.003
31. Adachi M, Soneda A, Asakura Y, et al. Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper. European Journal of Endocrinology. 2012;166:829-838. doi: https://doi.org/10.1530/EJE-11-0653
32. Trumpff C, Grosse SD, Olivieri A, et al. Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? European Journal of Endocrinology. 2017;177:D1-D12. doi: https://doi.org/10.1530/EJE-17-0107
33. Chang YW, Lee DH, Hong YH, et al. Congenital Hypothyroidism: Analysis of Discordant US and Scintigraphic Findings. Radiology. 2011;258(3):872-879. doi: https://doi.org/10.1148/radiol.10100290
34. Schoen EJ, Clapp W, To TT, Fireman BH. The Key Role of Newborn Thyroid Scintigraphy With Isotopic Iodide (123I) in Defining and Managing Congenital Hypothyroidism. Pediatrics. 2004;114(6):e683-e688. doi: https://doi.org/10.1542/peds.2004-0803
35. van Engelen K, Mommersteeg MTM, Baars MJH, et al. The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis. PLoS One. 2012;7(12):e52685. doi: https://doi.org/10.1371/journal.pone.0052685
36. de Filippis T, Gelmini G, Paraboschi E, et al. A frequent oligogenic involvement in congenital hypothyroidism. Human Molecular Genetics. 2017;26:2507-2514. doi: https://doi.org/10.1093/hmg/ddx145
37. Carré A, Stoupa A, Kariyawasam D, et al. Mutations in BOREALIN cause thyroid dysgenesis. Human Molecular Genetics. 2017;26:599-610. doi: https://doi.org/10.1093/hmg/ddw419
38. Targovnik HM, Citterio CE, Rivolta CM. Iodide handling disorders (NIS, TPO, TG, IYD). Best Practice and Research Clinical Endocrinology and Metabolism. 2017;31:195-212. doi: https://doi.org/10.1016/j.beem.2017.03.006
39. Park KJ, Park HK, Kim YJ, et al. DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. Annals of Laboratory Medicine. 2016;36:145-153. doi: https://doi.org/10.3343/alm.2016.36.2.145
40. Muzza M, Fugazzola L. Disorders of H2O2 generation. Best Practice and Research Clinical Endocrinology and Metabolism. 2017;31:225-240. doi: https://doi.org/10.1016/j.beem.2017.04.006
41. Srichomkwun P, Takamatsu J, Nickerson DA, et al. DUOX2 Gene mutation manifesting as resistance to thyrotropin phenotype. Thyroid. 2017;27:129-131. doi: https://doi.org/10.1089/thy.2016.0469
42. Abu-Khudir R, Paquette J, Lefort A, et al. Transcriptome, methylome and genomic variations analysis of ectopic thyroid glands. PLoS ONE. 2010;5:e13420. doi: https://doi.org/10.1371/journal.pone.0013420
43. Kang HS, Kumar D, Liao G, et al. GLIS3 is indispensable for TSH/ TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation. Journal of Clinical Investigation. 2017;127:4326-4337. doi: https://doi.org/10.1172/JCI94417
44. Cherella CE, Wassner AJ. Congenital hypothyroidism: insights into pathogenesis and treatment. International Journal of Pediatric Endocrinology. 2017;2:11. doi: https://doi.org/10.1186/s13633-017-0051-0
45. Francis GL, Waguespack SG, Bauer AJ, et al. Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid. 2015;25(7):716‐759. doi: https://doi.org/10.1089/thy.2014.0460
46. 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
Supplementary files
Review
For citations:
Peterkova V.A., Bezlepkina O.B., Shiryaeva T.U., Vadina T.A., Nagaeva E.V., Chikulaeva O.A., Shreder E.V., Konuhova M.B., Makretskaya N.A., Shestopalova E.A., Mitkina V.B. Clinical guideline of «congenital hypothyroidism». Problems of Endocrinology. 2022;68(2):90-103. (In Russ.) https://doi.org/10.14341/probl12880
Views:
36915
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
.jpg){kind=logo}
