[在多重内分泌瘤1型中产生皮质热素的叶绿细胞瘤]
D V Rebrova1, S I Grigorova2, N V Vorokhobina3
1Saint Petersburg State University Hospital.
概括
本案例研究介绍了多发性内分泌新陈代谢1型 (MEN1) 综合征中罕见的ACTH产生染细胞瘤,这是以前在医学文献中未经记录的组合. 该患者经历了多种内分泌瘤,突出了诊断和管理这种罕见遗传疾病的复杂性.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 一名66岁的男性出现了激素不活跃的垂体腺瘤,导致视觉障碍.
- 四年后,他出现症状,包括虚弱,头痛,高血压和心动减速,以及上腺附带瘤.
- 实验室发现表明高皮质醇,ACTH升高,低血糖,高血糖和甲基内/诺米内水平增加.
研究的目的:
- 报告一个患有内分泌瘤组合的患者的独特临床病例.
- 调查这些瘤与多发性内分泌新陈代谢1型 (MEN1) 综合征的潜在关联.
- 为了突出第一个在MEN1综合征中记录的ACTH产生染细胞瘤的案例.
主要方法:
- pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma. pituitary macroadenoma.
- 上腺切除术用于上腺染细胞瘤.
- 手术切除副甲状腺腺瘤和甲状腺切除术治疗哈希莫托甲状腺炎.
- 对MEN1基因外显子2和10的基因分析.
- 所有切除的瘤的组织病理学确认.
主要成果:
- 最初的垂体外科手术解决了视觉症状.
- 随后的上腺切除术和甲状腺切除术导致症状回归和激素水平的正常化.
- 组织学证实了垂体腺瘤,产生ACTH的血红细胞瘤,副甲状腺瘤和哈希莫托的甲状腺炎.
- MEN1基因分析没有发现突变,但由于多个内分泌瘤,确立了MEN1综合征的临床诊断.
- 该患者出现了内分泌瘤的独特组合,包括在MEN1.1中以前未报告的产生ACTH的乳红细胞瘤.
结论:
- 根据多种内分泌瘤的临床表现,该患者被诊断为MEN1综合征.
- 这一病例代表了在文献中首次报告与MEN1综合征相关的ACTH产生染细胞瘤.
- 尽管对常见的MEN1突变进行了基因测试,但临床图片强烈表明遗传性综合征,因此需要继续观察.
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