欧洲儿科内分泌学会与欧洲内分泌学会《关于先天性甲状腺功能减退症的筛查、诊断和管理共识2020—2021年更新版》要点解读

doi:10.12114/j.issn.1007-9572.2021.02.009

摘要/Abstract

摘要： 先天性甲状腺功能减退症（CH）指出生时下丘脑-垂体-甲状腺轴功能障碍而导致的甲状腺激素产生不足或伴有轻微到严重的甲状腺激素缺乏症。据统计，新生儿CH患病率约为1/4 000，多数患儿出生时无明显异常表现，只有<10%的患儿可根据临床表现做出诊断。新生儿CH的典型临床表现包括头大、颈短、皮肤粗糙、面部黏液水肿、眼距宽等特殊面容及体态，常伴有智力发育迟缓、表情呆滞、神经反射迟钝等神经系统症状和嗜睡、食欲不振等生理功能低下等，如得不到及时治疗则可引起神经系统不可逆性损伤。多数CH患儿经早期治疗后生活质量与正常儿童无较大差异。本文主要对欧洲儿科内分泌学会与欧洲内分泌学会《关于CH的筛查、诊断和管理共识2020—2021年更新版》要点进行了解读，以促进CH临床诊治的规范化。

关键词: 先天性甲状腺功能减退症, 指南, 共识, 新生儿筛查, 甲状腺发育不全, 激素生成障碍, 中枢激素减退症

Abstract: Congenital hypothyroidism is defined as insufficient thyroid hormone production caused by dysfunction of hypothalamic-pituitary-thyroid axis or accompanied with mild to severe thyroid hormone deficiency at birth. The prevalence rate of congenital hypothyroidism is about 1/4 000 in newborns according to statistics，and most of the children can be born with no obvious abnormal manifestations，only no more than 10% of the children could be diagnosed according to their clinical manifestations. Typical clinical manifestations of congenital hypothyroidism mainly include special facial features and body posture，such as large head，short neck，rough skin，facial myxedema，wide interocular distance，often accompanied by nervous system symptoms（such as mental retardation，dull expression，retarded nerve reflex）and low physiological function（such as somnolence and inappetence），which may result in irreversible damage to nervous system if not treated in time. Early treatment in most children with congenital hypothyroidism may achieve the quality of life with no significant difference to normal children. This paper mainly interprets the 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，facilitating the normalization of clinical diagnosis and treatment of congenital hypothyroidism.

Key words: Congenital hypothyroidism, Guidebook, Consensus, Neonatal screening, Thyroid dysgenesis, Hormone secretion disorders, Central hypothyroidism

邓臣前,陈树春. 欧洲儿科内分泌学会与欧洲内分泌学会《关于先天性甲状腺功能减退症的筛查、诊断和管理共识2020—2021年更新版》要点解读[J]. 中国全科医学, 2021, 24(36): 4555-4562. DOI: 10.12114/j.issn.1007-9572.2021.02.009.

DENG Chenqian，CHEN Shuchun. 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 General Practice, 2021, 24(36): 4555-4562.

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