Liu Yunfeng, Han Minmin, Yang Jing, Xu Qishan, Xu Linxi, Ren Yi, Xiang Chenyu, Liu Zi'ang, Zhang Yi
Department of Endocrinology, First Hospital of Shanxi Medical University, Taiyuan 03000, China.
First Clinical Medical College, Shanxi Medical University, Taiyuan 03000, China.
Int J Gen Med. 2020 Oct 13;13:825-831. doi: 10.2147/IJGM.S273969. eCollection 2020.
Here, we report a case of a patient with symptoms of Cushing syndrome, who is diagnosed with primary generalized glucocorticoid hypersensitivity in the end. The patient's relevant laboratory tests and imaging examinations are described. Mifepristone, a glucocorticoid receptor antagonist, was prescribed and its therapeutic effect on the patient's electrolyte level, lipid metabolism, and bone metabolism was observed during the treatment. The endocrine assessment indicated normal pituitary-adrenal axis regulation function but reduced cortisol secretion. Quantitative reverse transcription-polymerase chain reaction indicated reduced mRNA level of mineralocorticoid receptor gene. Pituitary magnetic resonance imaging showed normal pituitary anatomy, while adrenal computed tomography scan showed bilateral adrenal atrophy and increased content of visceral and abdominal subcutaneous fat. Moreover, chromosome examination revealed a normal 46, XY chromosome. In this case, mifepristone was administered to treat primary generalized glucocorticoid hypersensitivity. To the best of our knowledge, there are a few reports on mifepristone-treated primary generalized glucocorticoid hypersensitivity. In the one-year follow-up visits, the evaluated results of electrolyte level, lipid metabolism, and bone metabolism indicated that the patient's symptoms resulting from cortisol hypersensitivity were relieved progressively.
在此,我们报告一例患有库欣综合征症状的患者,最终被诊断为原发性全身性糖皮质激素超敏反应。描述了该患者的相关实验室检查和影像学检查情况。开具了糖皮质激素受体拮抗剂米非司酮,并在治疗期间观察了其对患者电解质水平、脂质代谢和骨代谢的治疗效果。内分泌评估表明垂体 - 肾上腺轴调节功能正常,但皮质醇分泌减少。定量逆转录 - 聚合酶链反应表明盐皮质激素受体基因的mRNA水平降低。垂体磁共振成像显示垂体解剖结构正常,而肾上腺计算机断层扫描显示双侧肾上腺萎缩,内脏和腹部皮下脂肪含量增加。此外,染色体检查显示染色体为正常的46,XY。在该病例中,使用米非司酮治疗原发性全身性糖皮质激素超敏反应。据我们所知,关于米非司酮治疗原发性全身性糖皮质激素超敏反应的报道较少。在为期一年的随访中,对电解质水平、脂质代谢和骨代谢的评估结果表明,患者因皮质醇超敏反应引起的症状逐渐缓解。