在成年人中,由脑垂体外产生促肾上腺皮质激素(ACTH)的肿瘤引起的库欣综合征(CS)非常普遍。然而,这在儿童和青少年中并不常见。异位ACTH综合征(EAS)在幼儿中很少发生,占不到1%的病例。然而,当它确实发生时,由于可以独立于肿瘤发生的严重皮质醇增多症,它往往是一种严重的疾病。因此,EAS应被视为关键的内分泌紧急情况,在诊断程序和治疗干预方面需要迅速采取行动。一名来自英国(UK)的14岁白人女性,有两周的手脚肿胀史,伴有脸上不痒的皮疹,回来,和胸部一个星期。初步调查显示低钾血症性碱中毒,高血糖症,升高的血清和24小时尿皮质醇,和高ACTH水平。进一步的调查证实了EAS,并找出原发肿瘤的位置,我们进行了胸部CT对比增强扫描,发现一个5x3cm的胸腺影增强肿块.镓-DOTA-TATEPET扫描揭示了左上胸部放射性摄取增加以及广泛的GAD-vid转移性疾病。腹部核磁共振,检测多个肝脏沉积物,提示肝活检,显示具有神经内分泌分化的恶性肿瘤。患者被诊断为EAS,伴有胸腺原发性神经内分泌肿瘤和转移。该病例强调了在诊断为CS的患者中考虑EAS的重要性,特别是在没有已知危险因素的年轻人中。
In adults, Cushing\'s syndrome (CS) caused by tumours that produce adrenocorticotropic hormone (ACTH) outside of the pituitary gland is quite prevalent. However, it is uncommon in children and teenagers. Ectopic ACTH syndrome (EAS) is a rare occurrence in young children, accounting for less than 1% of cases. Nevertheless, when it does occur, it tends to be a severe condition due to the profound hypercortisolism that can occur independently of the tumour. Consequently, EAS should be regarded as a critical endocrine emergency, necessitating prompt action in terms of diagnostic procedures and therapeutic interventions. A 14-year-old White female from the United Kingdom (UK) presented with a two-week history of hands and feet swelling, accompanied by a non-itchy rash on the face, back, and chest for one week. Initial investigations revealed hypokalemic alkalosis, hyperglycaemia, elevated serum and 24-hour urinary cortisol, and high ACTH level. Further investigations confirmed EAS, and to find out the primary tumour location, a contrast-enhanced thoracic CT scan was done and identified a 5x3 cm mass with enhanced thymic shadow. Increased radioactivity uptake in the left upper chest along with widespread GAD-avid metastatic disease unveiled by Gallium-DOTA-TATE PET scan. An abdominal MRI, detecting multiple liver deposits, prompted a liver biopsy, revealing a malignant tumour with neuroendocrine differentiation. The patient was diagnosed with EAS with a primary neuroendocrine tumour of the thymus and metastasis. This case underscores the significance of considering EAS in patients with a diagnosis of CS, especially in young individuals with no known risk factors.