早期出现的GH过量:年轻成年人体内的体腺瘤
Francesca Galbiati1, Ursula B Kaiser1
1Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
JCEM case reports
|November 1, 2023
概括
产生生长激素 (GH) 的垂体腺瘤会导致巨症或巨症. 推进行基因检测,以检测巨症和早期的巨症,特别是具有攻击性的瘤.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 产生生长激素 (GH) 的垂体腺瘤会导致巨症或巨症,其发病率与体融合相对.
- 现象类型可以在周围青春期呈现期间重叠.
- 在近50%的病例中,巨型性是遗传的,因此需要进行遗传评估.
研究的目的:
- 介绍一个年轻成人患有巨型体腺瘤的病例.
- 为了突出治疗耐药性和对酸受体相互作用蛋白 (AIP) 突变的负遗传测试.
主要方法:
- 一个年轻成年患者的病例报告.
- 对临床表现,治疗方法和遗传检测结果的审查.
主要成果:
- 这位患者呈现出巨型体腺瘤.
- 腺瘤对多种治疗方式具有抗性.
- 对AIP突变的遗传测试是负的.
结论:
- 这一案例强调了GH分泌的垂体腺瘤的复杂性,即使没有AIP突变.
- 需要进一步研究下垂体腺瘤的遗传因素和治疗耐药性.
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