对甲状腺激素的耐药性和甲状腺刺激激素分泌垂体腺瘤的共存
Thai Hau Koo1, Hossein Gharib2
1Division of Endocrinology, Department of Internal Medicine, Hospital Pakar Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.
AACE endocrinology and diabetes
|February 5, 2026
概括
区分甲状腺激素耐药性 (RTH) 和分泌TSH的垂体腺瘤 (TSHoma) 是一个挑战. 这一案例表明,可能会出现双重病理,强调需要进行全面的测试,以避免误诊和不必要的手术.
科学领域:
- 内分泌学 在内分泌学.
- 分子遗传学 分子遗传学
- 神经外科 神经外科
背景情况:
- 中枢甲状腺功能障碍症带来诊断挑战,特别是区分甲状腺激素抵抗 (RTH) 和TSH分泌垂体腺瘤 (TSHoma).
- 增加的甲状腺激素与非抑制的TSH水平使诊断复杂化.
研究的目的:
- 报告一个最初被误诊的疑似RTH复杂病例.
- 突出诊断挑战和RTH和TSHoma的重叠特征.
- 强调全面诊断工作的重要性.
主要方法:
- 一个56岁的男性被怀疑患有RTH的病例报告.
- 实验室检测包括自由T4,总T3,TSH,甲状腺素受体抗体,以及TSH对甲状腺素释放激素的反应.
- 下垂体MRI和甲状腺激素受体β基因突变的遗传检测.
- 手术干预和下垂体腺瘤的组织病理学分析.
主要成果:
- 患者呈现出高的自由T4和总T3与正常的TSH.
- 下垂体MRI揭示了一个微腺瘤,最初怀疑TSHoma.
- 基因检测证实了致病性甲状腺激素受体β基因突变,支持RTH.
- 组织病理学揭示了一种多激素性垂体腺瘤,对TSH,生长激素和益生菌素呈阳性.
- 手术后TSH和自由T4的正常化表明双重病理.
结论:
- 这一案例凸显了区分RTH与TSHoma的诊断复杂性.
- 这些发现表明,同时出现TSHoma和RTH (双重病理) 的可能性.
- 综合性激素检测和遗传确认至关重要,以避免误诊和不必要的手术干预.
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