甲状腺激素抵抗综合征的识别及管理

doi:10.11852/zgetbjzz2025-0780

摘要/Abstract

摘要： 甲状腺激素抵抗综合征(RTH)是一种由甲状腺激素受体突变或甲状腺激素代谢/转运异常引起的罕见内分泌疾病,以靶组织对甲状腺激素敏感性降低、血清游离三碘甲状腺原氨酸/游离甲状腺素升高而促甲状腺激素不被抑制为特征。RTH对儿童各系统发育产生重大影响,具有高度异质性的临床表现,容易漏诊误诊。本文结合发病机制,重点讲述了RTH的早期识别、诊断、个体化治疗及长期健康管理策略,旨在为临床医师提供诊疗参考。

关键词: 甲状腺激素抵抗综合征, 基因诊断, 个体化治疗, 儿童

Abstract: Resistance to thyroid hormone (RTH) is a rare endocrine disorder caused by mutations in thyroid hormone receptors or abnormalities in thyroid hormone metabolism/transmission, characterized by decreased sensitivity to thyroid hormones in target tissues, elevated serum FT3/FT4 levels, and uncontrolled thyroid-stimulating hormone (TSH) production.RTH significantly impacts the development of various systems in children, presenting with highly heterogeneous clinical manifestations that are prone to misdiagnosis and missed diagnosis.This article focuses on the early identification, diagnosis, individualized treatment and long-term health management strategies of RTH based on the pathogenesis, aiming to provide reference for clinicians.

Key words: resistance to thyroid hormone, gene diagnosis, individualized treatment, children

中图分类号:

R179

张星星, 廖林英. 甲状腺激素抵抗综合征的识别及管理[J]. 中国儿童保健杂志, 2025, 33(10): 1056-1060.

ZHANG Xingxing, LIAO Linying. Identification and management of resistance to thyroid hormone syndrome[J]. Chinese Journal of Child Health Care, 2025, 33(10): 1056-1060.

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