Interpretation of guideline on the screening and management of congenital hypothyroidism issued by American Academy of Pediatrics in 2023

LIU Chang; ZHANG Liqin; DU Wei; LIU Tingting

doi:10.11852/zgetbjzz2023-1186

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Chinese Journal of Child Health Care ›› 2024, Vol. 32 ›› Issue (6) : 637-642. DOI: 10.11852/zgetbjzz2023-1186

Interpretation of guideline on the screening and management of congenital hypothyroidism issued by American Academy of Pediatrics in 2023

LIU Chang, ZHANG Liqin, DU Wei, LIU Tingting

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Abstract

Congenital hypothyroidism is a common thyroid disease in children. If it is not screened and treated in a timely manner, it can cause irreversible damage to intellectual and physical development. In January 2023, the American Academy of Pediatrics issued guideline on the screening and management of congenital hypothyroidism. The guideline provides detailed information on the pathophysiology of congenital hypothyroidism, neonatal screening programs and procedures, imaging and genetic diagnosis, long-term follow-up management, and evaluation. To make it more convenient for domestic pediatricians to use as a reference, this article provides an interpretation of some key contents by referring to domestic and foreign literature.

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congenital hypothyroidism / newborn screening / diagnostic and treatment / management / guide interpretation

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LIU Chang, ZHANG Liqin, DU Wei, LIU Tingting. Interpretation of guideline on the screening and management of congenital hypothyroidism issued by American Academy of Pediatrics in 2023[J]. Chinese Journal of Child Health Care. 2024, 32(6): 637-642 https://doi.org/10.11852/zgetbjzz2023-1186

References

[1] Van Trotsenburg P, Stoupa A, Leger 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.
[2] Wassner AJ. Congenital hypothyroidism[J]. Clin Perinatol, 2018,45(1):1-18.
[3] Rose SR,Wassner AJ, Wintergerst K,et al. American Academy of Pediatrics, Section on Endocrinology, Council on Genetics; Pediatric Endocrine Society;American Thyroid Association. Congenital hypothyroidism: Screening and management[J]. Pediatrics, 2023,151(1):e222060419.
[4] Rose SR,Wassner AJ, Wintergerst K,et al; American Academy of Pediatrics, Section on Endocrinology, Council on Genetics; Pediatric Endocrine Society; American Thyroid Association. Congenital hypothyroidism: Screening and management[J]. Pediatrics, 2023,151(1):e222060420.
[5] Lee SY, Pearce EN. Assessment and treatment of thyroid disorders in pregnancy and the postpartum period[J]. Nat Rev Endocrinol, 2022,18(3):158-171.
[6] Alexander EK, Pearce EN, BrentGA,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.
[7] Shi X, Han C, Li C, et al. Optimal and safe upper limits of iodine intake for early pregnancy in iodine-sufficient regions: A cross-sectional study of 7190 pregnant women in China[J]. J Clin Endocrinol Metab, 2015,100(4):1630-1638.
[8] 《孕产期甲状腺疾病防治管理指南》编撰委员会,中华医学会内分泌学分会,中华预防医学会妇女保健分会. 孕产期甲状腺疾病防治管理指南[J]. 中华内分泌代谢杂志,2022,38(7):539-551.
[9] 张世琨,王巧梅,沈海屏.中国免费孕前优生健康检查项目的设计,实施及意义[J].中华医学杂志,2015,95(3):162-165.
[10] Slaughter JL,Meinzen-Derr J, Rose SR, et al. The effects of gestational age and birth weight on false-positive newborn-screening rates[J]. Pediatrics, 2010,126(5):910-916.
[11] 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(C):77-82.
[12] 中华预防医学会出生缺陷预防与控制专业委员会新生儿遗传代谢病筛查学组. 新生儿遗传代谢病筛查组织管理及血片采集技术规范专家共识[J]. 中华新生儿科杂志(中英文),2023,38(6):321-326.
[13] 中华医学会儿科学分会内分泌遗传代谢学组,中华预防医学会儿童保健分会新生儿疾病筛查学组. 先天性甲状腺功能减低症诊疗共识[J]. 中华儿科杂志,2011,49(6):421-424.
[14] Rodríguez Sánchez A,Chueca Guindulain MJ, Alija Merillas M, et al. Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening[J].An Pediatr(Engl Ed), 2019,90(4):250.e1-250.e8.
[15] Desai MP, Sharma R,Riaz I,et al.Newborn screening guidelines for congenital hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology(ISPAE)-Part I: Screening and confirmation of diagnosis[J].Indian Journal of Pediatrics, 2018,85(6):440-447.
[16] Nebesio TD, Mckenna MP, Nabhan ZM,et al.Newborn screening results in children with central hypothyroidism[J].J Pediat, 2010, 156(6):990-993.
[17] Nitash,Zwaveling-Soonawala, Paul AS,et al.The severity of congenital hypothyroidism of central origin should not be underestimated[J]. J Clin Endocrinol Metab, 2015,100(2):E297-300.
[18] Braslavsky D,Méndez, MV, Prieto L,et al.Pilot Neonatal screening program for central congenital hypothyroidism: Evidence of significant detection[J].Horm Res Paediatr,2017,88(3-4):274-280
[19] Connelly K, Pierce M, HannaC,et al.Detecting congenital central hypothyroidism by newborn screening: Difficulty in distinguishing from congenital thyroxine-binding globulin deficiency[J].Horm Res Paediatr, 2017,88(5):331-338.
[20] Cherella CE, Wassner AJ.Congenital hypothyroidism: Insights into pathogenesis and treatment[J].Int J Pediatr Endocrinol, 2017,2017(1):11.
[21] De Silva A, Jong I, McLean G, et al. The role ofscintigraphy and ultrasound in the imaging of neonatal hypothyroidism: 5-year retrospective review of single-centre experience[J]. J Med Imag Radiat On, 2014,58(4):422-430.
[22] Supakul N, Delaney LR, Siddiqui AR,et al.Ultrasound for primary imaging of congenital hypothyroidism[J]. Am J Roentgenol, 2012,199(3):W360-6.
[23] Hisashi O, Hirokazu S, Hiromasa N,et al.Color doppler ultrasonography: Diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis[J].J Clin Endocrinol Metab,2003,88(11):5145-9.
[24] Beltrao CB, Juliano AG, Chammas MC,et al.Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination[J].Endocrine Journal, 2010, 57(7):587-593.
[25] Muir,Andrew.Thyroid scanning, ultrasound, and serum thyroglobulin in determining the origin of congenital hypothyroidism[J].Arch Pediatr Adol Med, 1988, 142(2):214.
[26] Lucas-Herald A, Jones J,Attaie M,et al.Diagnostic and predictive value of ultrasound and isotope thyroid scanning, alone and in combination, in infants referred with thyroid-stimulating hormone elevation on newborn screening[J].J Pediatr, 2014,164(4):846-854.
[27] US National Library of Medicine,MedLine Plus. Congenital hypothyroidism[EB/OL].(2019-07-10) https://ghr.nlm.nih.gov/condition/congenitalhypothyroidism#inheritance.
[28] Persani L, Rurale G, De Filippis T,et al.Genetics and management of congenital hypothyroidism[J].Best Pract Res ClinEndocrinol Metab, 2018:32(4):387-396.
[29] Nicholas AK, Serra EG,Cangul H, et al. Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ[J]. J Clin Endocrinol Metab, 2016,101(12): 4521-4531
[30] Lem AJ, Rijke YBD, Toor HV,et al.Serum thyroid hormone levels in healthy children from birth to adulthood and in short children born small for gestational age[J].J Clin Endocrinol Metab, 2012, 97(9):3170-3178.
[31] Fan X, Fu C,Shen Y,et al.Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism[J].Clin Chim Acta, 2017, 468:76-80.
[32] Tiziana DF, Giulia G, Elvezia P,et al.A Frequent oligogenic involvement in congenital hypothyroidism[J].Human Molecular Genetics, 2017,26(13):2507-2514.
[33] Persani L, Bonomi M.The multiple genetic causes of central hypothyroidism[J].Best Pract Res Clin Endocrinol Metab, 2017, 31(2):255-263.
[34] Meyer LM, Stephens K, Carter CA, et al. Stability and consistency of compounded oral liquid levothyroxine formulations[J]. J Am Phar Assoc, 2020,60(6):e168-e172.
[35] Jonklaas J, Bianco AC, Bauer AJ,et al.Guidelines for the treatment of hypothyroidism: prepared by the american thyroid association task force on thyroid hormone replacement[J].Thyroid, 2014, 24(12):1670-1751.
[36] Vaidyanathan P, Pathak M, Kaplowitz PB.In congenital hypothyroidism, an initial L-thyroxine dose of 10-12 μg/kg/day is sufficient and sometimes excessive based on thyroid tests 1 month later[J].J Pediatr Endocrinol Metab, 2012, 25(9-10):849-52.
[37] Paone L, Fleisch AF, Feldman HA,et al.Liothyronine improves biochemical control of congenital hypothyroidism in patients with central resistance to thyroid hormone[J].J Pediatr, 2016, 175:167-172.e1.
[38] Akcay T, Turan S, Guran T,et al.T4 plus T3 treatment in children with hypothyroidism and inappropriately elevated thyroid-stimulating hormone despite euthyroidism on T4 treatment[J].Horm Res Pdiatr, 2010, 73(2):108-114.
[39] Komur M, Ozen S, Okuyaz C,et al.Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III[J].Brain Dev, 2013, 35(5):392-397.
[40] Veer LVDS,Kempers MJ, Maurice-Stam H,et al.Health-related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening[J].Child Adolesc Psychiatry Ment Health, 2012, 6(1):32-32.
[41] Olney RS, Grosse SD, Vogt RF.Prevalence of congenital hypothyroidism--current trends and future directions:Workshop summary[J].Pediatrics, 2010, 125(Suppl 2):31-36.
[42] Grüters, Annette, Krude H.Detection and treatment of congenital hypothyroidism[J].Nat Rev Endocrinol, 2011, 8(2):104-113.
[43] Léger,Juliane, Olivieri A, Donaldson M,et al.European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism[J].Horm Res Pediatr, 2014, 81(2):80-103.