Arjunan Durairaj, Jain Nimisha, Shah Ravi, Ahuja Chirag K, Mavuduru Ravimohan S, Bora Girdhar S, Pal Rimesh, Bhadada Sanjay K, Bhansali Anil, Basher Rajender K, Saikia Uma N, Walia Rama
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Department of Neuroradiology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Indian J Endocrinol Metab. 2025 Jul-Aug;29(4):434-439. doi: 10.4103/ijem.ijem_96_25. Epub 2025 Aug 26.
Ectopic adrenocorticotropic hormone (ACTH)/corticotropin-releasing hormone production by tumours causes 5-10% of Cushing's syndrome cases. We present a 21-patient case series with ectopic Cushing's syndrome (ECS) from a tertiary care institute in India.
Data were collected retrospectively for patients from 1984 to 2004 and prospectively thereafter till 2019. This included clinical signs, diagnostic tests, comorbidities, imaging, management, outcomes, and follow-up data.
In this study of 21 patients (14 males, mean age 32.4 ± 14 years) diagnosed with ECS, the mean lag period between the symptom onset and diagnosis was 15.9 ± 11.9 months. Predominant symptoms were proximal muscle weakness (85.7%), menstrual irregularity (85.7% of females), hyperpigmentation (76.2%), weight gain (61.9%), and infections (23.8%). Key signs included cuticular atrophy (100%), easy bruising (95.2%), and striae (71.4%). Despite 33.3% losing weight, 61.3% gained. 71.4% of the patients experienced diabetes, and 90.5% had hypertension as their metabolic complications. All patients exhibited disrupted cortisol circadian rhythms. The mean cortisol level at 0800 h was 1220 ± 556.2 nmol/L, while at 2300 h, it was 1108.3 ± 491.7 nmol/L. The median 0800-hour ACTH was 139 pg/ml. 22.2% displayed a paradoxical increase in morning cortisol post-high-dose dexamethasone suppression test. Thymic carcinoid is as prevalent as bronchial carcinoid in ECS causation.
ECS is rare, but it is crucial to distinguish it from Cushing's disease, as tumour removal is the preferred treatment. In Cushing's syndrome evaluations, ECS should always be considered since no single test is definitive for its diagnosis.
肿瘤分泌异位促肾上腺皮质激素（ACTH）/促肾上腺皮质激素释放激素导致5% - 10%的库欣综合征病例。我们展示了来自印度一家三级医疗机构的21例异位库欣综合征（ECS）病例系列。
回顾性收集1984年至2004年患者的数据，并在此后前瞻性收集直至2019年的数据。这包括临床症状、诊断测试、合并症、影像学、治疗、结局和随访数据。
在这项对21例诊断为ECS的患者（14例男性，平均年龄32.4±14岁）的研究中，症状出现与诊断之间的平均间隔期为15.9±11.9个月。主要症状为近端肌无力（85.7%）、月经不规律（女性的85.7%）、色素沉着（76.2%）、体重增加（61.9%）和感染（23.8%）。关键体征包括表皮萎缩（100%）、易瘀斑（95.2%）和紫纹（71.4%）。尽管33.3%的患者体重减轻，但61.3%的患者体重增加。71.4%的患者患有糖尿病，90.5%的患者有高血压作为代谢并发症。所有患者均表现出皮质醇昼夜节律紊乱。08:00时的平均皮质醇水平为1220±556.2 nmol/L，而在23:00时，为1108.3±491.7 nmol/L。08:00时促肾上腺皮质激素的中位数为139 pg/ml。22.2%的患者在高剂量地塞米松抑制试验后早晨皮质醇出现反常升高。胸腺类癌在ECS病因中与支气管类癌一样常见。
ECS罕见，但将其与库欣病区分开来至关重要，因为手术切除肿瘤是首选治疗方法。在库欣综合征评估中，应始终考虑ECS，因为没有单一测试对其诊断具有决定性意义。
