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在第三级中心诊断GIP依赖的皮质醇过分分泌时使用混合餐试验的经验

Tugba Barlas¹, Gulsum Kayhan², Mehmet Muhittin Yalcin¹

¹Endocrinology and Metabolism, Gazi University, Ankara, Turkey.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association

|September 8, 2025

概括

异常的依赖葡萄糖的胰岛素受体 (GIPR) 表达可能会在上腺瘤中驱动过多的皮质醇. 查GIPR可能有助于诊断ACTH独立的皮质醇过分分泌.

科学领域:

内分泌学在内分泌学.
分子遗传学分子遗传学
在瘤学瘤学.

背景情况:

异常的依赖葡萄糖的胰岛素受体 (GIPR) 表达方式与皮质醇高分泌有关.
独立于ACTH的皮质醇过分分泌,通常是由于双边上腺腺瘤,需要精确的诊断标记物.

研究的目的:

调查ACTH独立皮质醇高分泌和双侧上腺腺瘤患者异常GIPR表达的存在和临床意义.

主要方法:

对21名患有双边上腺腺瘤和ACTH独立的皮质醇过分分泌的患者进行了回顾性分析.
使用混合食试验查异常GIPR表达.
在一小部分患者中进行基因分析 (KDM1A基因变异和染色体删除).

主要成果:

只有两名患者 (9.4%) 在混合食测试中表现出阳性皮质醇反应,表明异常的GIPR表达.
一个完全响应的患者患有KDM1A基因变异和上腺组织的染色体缺失.
大多数患者 (81%) 在混合饮食测试中没有表现出显著的皮质醇升高.

结论:

异常的GIPR表达在双边上腺腺瘤的ACTH独立皮质醇高分泌中并不普遍存在.
混合食测试可以识别与GIPR相关的特定遗传变异的患者的一个子集.
需要进一步的研究来确定哪些患者受益于GIPR查,并阐明KDM1A在皮质醇高分泌中的作用.

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