Vaca Richard, Shah Nirali A
Division of Internal Medicine, Icahn School of Medicine at Mount Sinai, Mount Sinai Beth Israel, New York, New York.
Division of Endocrinology, Diabetes and Bone Disease, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
AACE Clin Case Rep. 2024 Sep 12;11(1):10-13. doi: 10.1016/j.aace.2024.09.002. eCollection 2025 Jan-Feb.
BACKGROUND/OBJECTIVE: Cushing syndrome resulting from ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is a rare condition, and its occurrence in adolescents is even more uncommon, representing <1% of cases. We describe a case of EAS from a lung carcinoid tumor leading to Cushing syndrome in a young woman, which was successfully treated with excision of the tumor.
An 18-year-old woman presented with mood disturbances, weight gain, and fatigue for 6 months. Workup revealed high levels of urinary free cortisol (>900 μg/dL; normal range, <45 μg/dL) and midnight salivary cortisol (0.755 μg/dL; normal range, <0.09 μg/dL). The ACTH and cortisol levels remained elevated after a low-dose dexamethasone suppression test. Magnetic resonance imaging of the pituitary gland did not reveal any adenoma and inferior petrosal sinus sampling showed no central-to-peripheral gradient. A diagnosis of EAS was made. Subsequent body imaging noted a 1-cm lung nodule. Due to symptoms of severe hypercortisolism including hypokalemia and worsening mood changes, the patient was started on metyrapone as a bridge to surgery. A few weeks later, the patient underwent successful surgical resection, after which symptoms promptly resolved. Pathology report later confirmed an atypical lung carcinoid tumor. The patient remained in remission at 1-year follow-up.
Medical therapy aids in managing severe hypercortisolism in ACTH-secreting tumors until definitive surgical treatment can be undertaken.
This case underscores the critical importance of promptly recognizing EAS and the resulting severe hypercortisolism symptoms because early surgical intervention can lead to a cure.
背景/目的:由异位促肾上腺皮质激素(ACTH)分泌(EAS)引起的库欣综合征是一种罕见疾病,在青少年中更为少见,占病例的比例不到1%。我们描述了一例年轻女性因肺类癌肿瘤导致EAS并引发库欣综合征的病例,该病例通过肿瘤切除得到成功治疗。
一名18岁女性出现情绪障碍、体重增加和疲劳6个月。检查发现尿游离皮质醇水平升高(>900μg/dL;正常范围,<45μg/dL),午夜唾液皮质醇水平升高(0.755μg/dL;正常范围,<0.09μg/dL)。低剂量地塞米松抑制试验后,促肾上腺皮质激素和皮质醇水平仍升高。垂体磁共振成像未发现任何腺瘤,岩下窦取样未显示中央到外周的梯度。诊断为EAS。随后的全身成像发现一个1厘米的肺结节。由于出现严重皮质醇增多症的症状,包括低钾血症和情绪变化恶化,患者开始服用甲吡酮作为手术的过渡治疗。几周后,患者接受了成功的手术切除,术后症状迅速缓解。病理报告后来证实为非典型肺类癌肿瘤。患者在1年随访中仍处于缓解状态。
在进行确定性手术治疗之前,药物治疗有助于控制分泌促肾上腺皮质激素肿瘤引起的严重皮质醇增多症。
本病例强调了及时识别EAS及其导致的严重皮质醇增多症症状的至关重要性,因为早期手术干预可实现治愈。