Chabot V, de Keyzer Y, Gebhard S, Uské A, Bischof-Delaloye A, Rey F, Dusmet M, Gomez F
Division of Endocrinology and Metabolism, Department of Medicine, University Hospital, Lausanne, Switzerland.
Horm Res. 1998;50(4):226-31. doi: 10.1159/000023279.
In the etiological diagnosis of ACTH-dependent Cushing's syndrome, it may be difficult to distinguish pituitary disease from ectopic ACTH production, specially when this is due to a benign neuroendocrine tumor. We describe a patient with partial dexamethasone suppression consistent with Cushing's disease, an absent response to CRH suggesting ectopic ACTH production and an atypical, apparent circadian rhythm. Bilateral cavernous sinus catheterization suggested a nonpituitary source of ACTH and, in the search of an ectopic tumor, somatostatin receptor scintigraphy, abdominal CT scan, and duodenopancreatic endoscopic echography were performed and failed to reveal any abnormality. Thoracic CT scan disclosed a tiny right lung nodule that showed a definite tracer uptake on MIBG scintigraphy. After resection, the nodule proved to be an 8-mm typical pulmonary carcinoid, with positive immunostaining for the classical neuroendocrine markers and for ACTH, and showing tissue expression of the POMC gene. However, the CRH receptor gene was not expressed, explaining the absent CRH response in vivo, whereas the V3 vasopressin receptor gene was expressed in the tumor tissue. The latter feature appears to be characteristic of benign carcinoids and may contribute to explaining the CRH-independent circadian rhythm observed in this case.
在促肾上腺皮质激素(ACTH)依赖性库欣综合征的病因诊断中,区分垂体疾病和异位ACTH分泌可能存在困难,尤其是当病因是良性神经内分泌肿瘤时。我们描述了一名患者,其地塞米松部分抑制试验结果符合库欣病,但对促肾上腺皮质激素释放激素(CRH)无反应提示异位ACTH分泌,且昼夜节律不典型。双侧海绵窦插管提示ACTH来源非垂体,在寻找异位肿瘤的过程中,进行了生长抑素受体闪烁扫描、腹部CT扫描和十二指肠胰腺内镜超声检查,但均未发现异常。胸部CT扫描发现一个微小的右肺结节,在间碘苄胍(MIBG)闪烁扫描中显示有明确的放射性摄取。切除后,该结节被证实为一个8毫米的典型肺类癌,对经典神经内分泌标志物和ACTH免疫染色呈阳性,并显示促肾上腺皮质激素原(POMC)基因的组织表达。然而,CRH受体基因未表达,这解释了体内对CRH无反应的原因,而V3血管加压素受体基因在肿瘤组织中表达。后一特征似乎是良性类癌的特征,可能有助于解释该病例中观察到的不依赖CRH的昼夜节律。