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Updated: Jun 15, 2025
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主要单边的上腺增生,同时伴有葡萄糖皮质激素和雄激素过量以及KDM1A不活化
Yasir S Elhassan1,2, Silke Appenzeller3, Laura-Sophie Landwehr4
1Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, United Kingdom.
European journal of endocrinology
|August 22, 2024
概括
这项研究报告了第一例导致严重库辛综合征和雄激素过多的初级单边巨性上腺增生症 (PUMAH) 的病例. 鉴定出了致病性KDM1A变体,这表明了这种罕见的上腺疾病的新机制.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 主要双边巨性上腺增生 (PBMAH) 是一种罕见的内分泌疾病,导致库辛综合征.
- 患有PBMAH和依赖葡萄糖的胰岛素型多 (GIP) 的库辛综合征的个体通常具有KDM1A基因变异.
- 以前没有记录过与葡萄糖皮质类药物和雄激素过量并发的初级单边巨性上腺增生症 (PUMAH).
研究的目的:
- 为了调查一种独特的PUMAH病例,该病例呈现出严重的库辛综合征和过多的雄激素.
- 为了阐明这种罕见疾病的底层组织病理和遗传机制.
主要方法:
- 对切除的上腺质量进行了详细的组织病理和遗传分析.
- 患者和父母DNA的全外体序列测序和副本数变异分析.
- RNA测序,以评估上腺结节中的基因表达.
主要成果:
- 组织病理学证实良性PUMAH与正常的逆侧上腺.
- 在该患者身上发现了生殖系KDM1A变异 (p.G46S和p.R289Dfs*7),随着野生类型等位基因的体质损失.
- 在上腺结节中观察到低KDM1A和增加GIP受体 (GIPR) 表达.
结论:
- 这是第一次报告与严重的库辛综合征和雄激素过量相关的PUMAH病例.
- 致病性KDM1A变体与这种罕见的上腺增生症的发展有关.
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