Lou Yuan, Chen Huan, Fei Si-Jia, He Qing-Hua, Pan Qi
Department of Endocrinology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.
Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Ther Adv Endocrinol Metab. 2024 Dec 11;15:20420188241305026. doi: 10.1177/20420188241305026. eCollection 2024.
Ectopic corticotropin-releasing hormone (CRH) syndrome, a rare subtype of adrenocorticotropic hormone-dependent Cushing syndrome, is associated with tumors of diverse origins. Here, we present a case of a 37-year-old female diagnosed with ectopic CRH syndrome secondary to rectal large cell neuroendocrine carcinoma, a hitherto unprecedented site for CRH-secreting tumors. The patient presented with classical features of Cushing syndrome, supported by laboratory evidence of hypercortisolemia and disrupted diurnal cortisol secretion. Imaging studies ruled out a pituitary adenoma, whereas colonoscopy identified a rectal malignancy. Immunohistochemical staining confirmed the presence of ectopic CRH syndrome. Despite prompt chemotherapy initiation, the patient's condition rapidly deteriorated, highlighting the aggressive nature and dismal prognosis associated with rectal large cell neuroendocrine carcinoma linked to ectopic CRH syndrome. This case underscores the importance of early recognition and comprehensive management to optimize patient outcomes.
异位促肾上腺皮质激素释放激素(CRH)综合征是促肾上腺皮质激素依赖性库欣综合征的一种罕见亚型,与多种起源的肿瘤有关。在此,我们报告一例37岁女性,诊断为继发于直肠大细胞神经内分泌癌的异位CRH综合征,这是迄今为止CRH分泌肿瘤前所未有的发病部位。患者表现出库欣综合征的典型特征,高皮质醇血症和昼夜皮质醇分泌紊乱的实验室证据支持了这一点。影像学检查排除了垂体腺瘤,而结肠镜检查发现了直肠恶性肿瘤。免疫组织化学染色证实了异位CRH综合征的存在。尽管迅速开始化疗,但患者的病情迅速恶化,突出了与异位CRH综合征相关的直肠大细胞神经内分泌癌的侵袭性和不良预后。该病例强调了早期识别和综合管理对优化患者预后的重要性。