Chang Johnny Yau Cheung, Woo Chariene Shao Lin, Chow Wing Sun, White Anne, Wong Ka Chung, Tsui Po, Lee Alan Chun Hong, Leung Eunice Ka Hong, Woo Yu Cho, Tan Kathryn Choon Beng, Lam Karen Siu Ling, Lee Chi Ho, Lui David Tak Wai
Department of Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Front Med (Lausanne). 2023 Dec 5;10:1246796. doi: 10.3389/fmed.2023.1246796. eCollection 2023.
Here, we report the first adult case of pancreatic yolk sac tumor with ectopic adrenocorticotropic hormone (ACTH) syndrome. The patient was a 27-year-old woman presenting with abdominal distension, Cushingoid features, and hyperpigmentation. Endogenous Cushing's syndrome was biochemically confirmed. The ACTH level was in the normal range, which raised the suspicion of ACTH precursor-dependent disease. Elevated ACTH precursors were detected, supporting the diagnosis of ectopic ACTH syndrome. Functional imaging followed by tissue sampling revealed a pancreatic yolk sac tumor. The final diagnosis was Cushing's syndrome due to a yolk sac tumor. The patient received a steroidogenesis inhibitor and subsequent bilateral adrenalectomy for control of hypercortisolism. Her yolk sac tumor was treated with chemotherapy and targeted therapy. Cushing's syndrome secondary to a yolk sac tumor is extremely rare. This case illustrated the utility of ACTH precursor measurement in confirming an ACTH-related pathology and distinguishing an ectopic from a pituitary source for Cushing's syndrome.
在此，我们报告首例成人胰腺卵黄囊瘤伴异位促肾上腺皮质激素（ACTH）综合征病例。患者为一名27岁女性，表现为腹胀、库欣样特征和色素沉着。经生化检查确诊为内源性库欣综合征。促肾上腺皮质激素水平在正常范围内，这引发了对促肾上腺皮质激素前体依赖性疾病的怀疑。检测到促肾上腺皮质激素前体升高，支持异位促肾上腺皮质激素综合征的诊断。功能成像后进行组织取样，发现了胰腺卵黄囊瘤。最终诊断为卵黄囊瘤所致库欣综合征。患者接受了类固醇生成抑制剂治疗，随后进行双侧肾上腺切除术以控制高皮质醇血症。她的卵黄囊瘤接受了化疗和靶向治疗。卵黄囊瘤继发的库欣综合征极为罕见。该病例说明了促肾上腺皮质激素前体测量在确认促肾上腺皮质激素相关病理以及区分库欣综合征的异位来源与垂体来源方面的作用。
