von Mach M A, Kann P, Piepkorn B, Bruder S, Beyer J
Schwerpunkt Endokrinologie und Stoffwechsel, Klinik und Poliklinik Innere Medizin, Mainz, Germany.
Dtsch Med Wochenschr. 2002 Apr 19;127(16):850-2. doi: 10.1055/s-2002-25185.
A 47-year-old man, with known and treated hypertension for 2 years, was admitted because of recent marked weight gain. Eleven years before a medullary thyroid carcinoma had necessitated removal of his thyroid and parathyroids. He was not receiving levothyroxine, calcium and vitamin D. Physical examination revealed florid Cushing's syndrome with a "buffalo hump", plethora, truncal obesity and red striae. Both his mother and a maternal male cousin were reported to have had a medullary thyroid carcinoma.
Plasma ACTH was 80 pg/ml (normal 10-70 pg/ml), urinary cortisol 764 microgram/24 h (normal 20-100 microgram/24 h). ACTH rose to 93.1 pg/ml after dexamethasone, with little suppression of serum cortisol (reduced from 34.4 to 22.1 microgram/dl; normal 7-25 microgram/dl. Magnetic resonance imaging did not detected an abnormal hypophysis. Petrosal sinus catheterization revealed hypophyseal suppression of ACTH, without evidence of focal peripheral ACTH production. Calcitonin was 24 000 pg/ml (normal < 8.8 pg/ml). Computed tomography showed multiple round lesions in the liver (histology: metastasis of a C-cell carcinoma). Genetic test showed a multiple endocrine neoplasm type IIa.
DIAGNOSIS, TREATMENT AND COURSE: The findings indicated Cushing's syndrome, most likely due to paraneoplastic ACTH secretion from a metastasis of the C-cell carcinoma. In the absence of a site of paraneoplastic ACTH secretion, bilateral adrenalectomy was performed. The plethora and striae regressed postoperatively and it was possible to reduce markedly the antihypertensive medication.
An ectopic site of ACTH should be included in the differential diagnosis of Cushing's syndrome. This is the first reported case of a medullary thyroid carcinoma and ectopic ACTH production in which the paraneoplastic ACTH secretion had been delayed for 11 years.
一名47岁男性，患高血压2年，已接受治疗，因近期体重显著增加入院。11年前，他因甲状腺髓样癌接受了甲状腺及甲状旁腺切除手术。他未接受左甲状腺素、钙和维生素D治疗。体格检查发现典型的库欣综合征，表现为“水牛背”、面色潮红、躯干肥胖及红色条纹。据报告，他的母亲和一位母系男性表亲都曾患甲状腺髓样癌。
血浆促肾上腺皮质激素（ACTH）为80 pg/ml（正常范围10 - 70 pg/ml），尿皮质醇为764微克/24小时（正常范围20 - 100微克/24小时）。地塞米松试验后，ACTH升至93.1 pg/ml，血清皮质醇几乎未被抑制（从34.4微克/分升降至22.1微克/分升；正常范围7 - 25微克/分升）。磁共振成像未检测到垂体异常。岩下窦插管显示垂体对ACTH有抑制作用，无局灶性外周ACTH分泌的证据。降钙素为24000 pg/ml（正常范围<8.8 pg/ml）。计算机断层扫描显示肝脏有多个圆形病灶（组织学检查：C细胞癌转移）。基因检测显示为多发性内分泌肿瘤IIa型。
诊断、治疗及病程：检查结果提示库欣综合征，很可能是由于C细胞癌转移灶旁分泌ACTH所致。由于未发现旁分泌ACTH的部位，遂进行了双侧肾上腺切除术。术后面色潮红和条纹消退，且有可能显著减少降压药物用量。
ACTH异位分泌部位应纳入库欣综合征的鉴别诊断。这是首例报告的甲状腺髓样癌伴异位ACTH分泌病例，其中旁分泌ACTH分泌延迟了11年。
