《2020~2021年欧洲内分泌参考网共识指南：先天性甲状腺功能减低症》解读

黄蓉; 邹福兰; 李茂军; 吴青; 阳倩; 唐彬秩; 梁小明

doi:10.7499/j.issn.1008-8830.2106051

PDF(567 KB)

HTML

中国当代儿科杂志 ›› 2021, Vol. 23 ›› Issue (11) : 1075-1079. DOI: 10.7499/j.issn.1008-8830.2106051

标准·方案·指南

《2020~2021年欧洲内分泌参考网共识指南：先天性甲状腺功能减低症》解读

黄蓉, 邹福兰, 李茂军, 吴青, 阳倩, 唐彬秩, 梁小明

作者信息 +

An interpretation of "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"

HUANG Rong, ZOU Fu-Lan, LI Mao-Jun, WU Qing, YANG Qian, TANG Bin-Zhi, LIANG Xiao-Ming

Author information +

文章历史 +

摘要

先天性甲状腺功能减低症是引起儿童智力发育及体格发育落后的常见疾病之一。2021年3月欧洲内分泌参考网发布了新版甲状腺功能减低症管理指南。该指南对新生儿先天性甲状腺功能减低症筛查、诊断和管理等方面进行了全面而详细的阐述。为方便国内临床医师借鉴和参考，现将该指南进行解读。引用格式:

Abstract

Congenital hypothyroidism is one of the common diseases causing delayed intelligence development and growth retardation in children. In 2021, the ENDO-European Reference Network updated the practice guidelines for the diagnosis and management of congenital hypothyroidism. The guidelines give a comprehensive and detailed description of the screening, diagnosis, and management of congenital hypothyroidism in neonates. This article gives an interpretation of the guidelines in order to provide a reference for clinicians in China.

导出引用

黄蓉, 邹福兰, 李茂军, 吴青, 阳倩, 唐彬秩, 梁小明. 《2020~2021年欧洲内分泌参考网共识指南：先天性甲状腺功能减低症》解读[J]. 中国当代儿科杂志. 2021, 23(11): 1075-1079 https://doi.org/10.7499/j.issn.1008-8830.2106051

HUANG Rong, ZOU Fu-Lan, LI Mao-Jun, WU Qing, YANG Qian, TANG Bin-Zhi, LIANG Xiao-Ming. An interpretation of "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"[J]. Chinese Journal of Contemporary Pediatrics. 2021, 23(11): 1075-1079 https://doi.org/10.7499/j.issn.1008-8830.2106051

参考文献

1 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[J]. Thyroid, 2021, 31(3): 387-419. PMID: 33272083. PMCID: PMC8001676. DOI: 10.1089/thy.2020.0333.
2 Knowles RL, Oerton J, Cheetham T, et al. Newborn screening for primary congenital hypothyroidism: estimating test performance at different TSH thresholds[J]. J Clin Endocrinol Metab, 2018, 103(10): 3720-3728. PMID: 30113641. PMCID: PMC6179177. DOI: 10.1210/jc.2018-00658.
3 Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism[J]. J Clin Endocrinol Metab, 2014, 99(2): 363-384. PMID: 24446653. PMCID: PMC4207909. DOI: 10.1210/jc.2013-1891.
4 Persani L, Brabant G, Dattani M, et al. 2018 European Thyroid Association (ETA) guidelines on the diagnosis and management of central hypothyroidism[J]. Eur Thyroid J, 2018, 7(5): 225-237. PMID: 30374425. PMCID: PMC6198777. DOI: 10.1159/000491388.
5 Valizadeh M, Moezzi F, Khavassi Z, et al. Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program[J]. J Pediatr Endocrinol Metab, 2017, 30(9): 973-978. PMID: 28809751. DOI: 10.1515/jpem-2016-0164.
6 McGrath N, Hawkes CP, Mayne P, et al. Optimal timing of repeat newborn screening for congenital hypothyroidism in preterm infants to detect delayed thyroid-stimulating hormone elevation[J]. J Pediatr, 2019, 205: 77-82. PMID: 30529133. DOI: 10.1016/j.jpeds.2018.09.044.
7 Medda E, Vigone MC, Cassio A, et al. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?[J]. J Clin Endocrinol Metab, 2019, 104(12): 5765-5779. PMID: 31287502. DOI: 10.1210/jc.2019-00900.
8 Persani L, Cangiano B, Bonomi M. The diagnosis and management of central hypothyroidism in 2018[J]. Endocr Connect, 2019, 8(2): R44-R54. PMID: 30645189. PMCID: PMC6373625. DOI: 10.1530/EC-18-0515.
9 Keller-Petrot I, Leger J, Sergent-Alaoui A, et al. Congenital hypothyroidism: role of nuclear medicine[J]. Semin Nucl Med, 2017, 47(2): 135-142. PMID: 28237002. DOI: 10.1053/j.semnuclmed.2016.10.005.
10 Lichtenberger-Geslin L, Dos Santos S, Hassani Y, et al. Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study[J]. J Clin Endocrinol Metab, 2013, 98(9): 3644-3652. PMID: 23780375. DOI: 10.1210/jc.2013-1645.
11 Wassner AJ. Congenital hypothyroidism[J]. Clin Perinatol, 2018, 45(1): 1-18. PMID: 29405999. DOI: 10.1016/j.clp.2017.10.004.
12 Leung AKC, Leung AAC. Evaluation and management of the child with hypothyroidism[J]. World J Pediatr, 2019, 15(2): 124-134. PMID: 30734891. DOI: 10.1007/s12519-019-00230-w.
13 Peters C, van Trotsenburg ASP, Schoenmakers N. Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives[J]. Eur J Endocrinol, 2018, 179(6): R297-R317. PMID: 30324792. DOI: 10.1530/EJE-18-0383.
14 Colucci P, Yue CS, Ducharme M, et al. A review of the pharmacokinetics of levothyroxine for the treatment of hypothyroidism[J]. Eur Endocrinol, 2013, 9(1): 40-47. PMID: 30349610. PMCID: PMC6193522. DOI: 10.17925/EE.2013.09.01.40.
15 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[J]. Thyroid, 2018, 28(8): 959-967. PMID: 29968521. DOI: 10.1089/thy.2018.0154.
16 Lichtenberger-Geslin L, Dos Santos S, Hassani Y, et al. Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study[J]. J Clin Endocrinol Metab, 2013, 98(9): 3644-3652. PMID: 23780375. DOI: 10.1210/jc.2013-1645.
17 Alexander EK, Pearce EN, Brent GA, et al. 2017 guidelines of the American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and the postpartum[J]. Thyroid, 2017, 27(3): 315-389. PMID: 28056690. DOI: 10.1089/thy.2016.0457.
18 Ranzini AC, Ananth CV, Smulian JC, et al. Ultrasonography of the fetal thyroid: nomograms based on biparietal diameter and gestational age[J]. J Ultrasound Med, 2001, 20(6): 613-617. PMID: 11400935. DOI: 10.7863/jum.2001.20.6.613.
19 Machado CM, Castro JM, Campos RA, et al. Graves' disease complicated by fetal goitrous hypothyroidism treated with intra-amniotic administration of levothyroxine[J]. BMJ Case Rep, 2019, 12(8): e230457. PMID: 31420436. PMCID: PMC6700595. DOI: 10.1136/bcr-2019-230457.
20 D?bska M, Gietka-Czernel M, Kretowicz P, et al. Foetal goitrous hypothyroidism—easy to recognise, difficult to treat. Is combined intra-amniotic and intravenous L-thyroxine therapy an option?[J]. Endokrynol Pol, 2018, 69(4): 442-446. PMID: 29956299. DOI: 10.5603/EP.a2018.0045.
21 Clairman H, Skocic J, Lischinsky JE, et al. Do children with congenital hypothyroidism exhibit abnormal cortical morphology?[J]. Pediatr Res, 2015, 78(3): 286-297. PMID: 25978801. DOI: 10.1038/pr.2015.93.
22 Bruno R, Aversa T, Catena M, et al. Even in the era of congenital hypothyroidism screening mild and subclinical sensorineural hearing loss remains a relatively common complication of severe congenital hypothyroidism[J]. Hear Res, 2015, 327: 43-47. PMID: 25987501. DOI: 10.1016/j.heares.2015.04.018.
23 Uyttendaele M, Lambert S, Tenoutasse S, et al. Congenital hypothyroidism: long-term experience with early and high levothyroxine dosage[J]. Horm Res Paediatr, 2016, 85(3): 188-197. PMID: 26881423. DOI: 10.1159/000443958.
24 Williams GR, Bassett JHD. Thyroid diseases and bone health[J]. J Endocrinol Invest, 2018, 41(1): 99-109. PMID: 28853052. PMCID: PMC5754375. DOI: 10.1007/s40618-017-0753-4.