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目的：报告1例唐氏综合征合并患Van Wyk-Grumbach综合征（VWGS），分析其临床特点、诊断以及治疗情况。方法：通过回顾性分析1名VWGS患者的临床资料及治疗过程。结果：治疗前该名患者临床表现为甲状腺功能低下、颜面浮肿、双侧睾丸增大。给予左甲状腺素钠片替代治疗后患者的颜面浮肿消退、增大的睾丸缩小以及甲状腺功能恢复正常。结论：有唐氏综合征的VWGS患者常易被误诊或漏诊而延误治疗。掌握VWGS的临床特点有助于明确诊断，并以左甲状腺素钠片作替代治疗为主。
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基本信息:
中图分类号:R725.8;R725.9
引用信息:
[1]卢振盛.唐氏综合征合并Van Wyk-Grumbach综合征1例病例报告及文献回顾[J].广州医科大学学报,2022,50(03):169-172.