Rehman Urooj Lal, Ansari Usama Ahmed, Khalid Khurram, Khalid Maliha, Fatima Marium, Khan Muhammad Saad, Siddiqui Erum, Waafira Aminath
Department of Endocrinology (Medical Ward-6), Jinnah Post Graduate Medical Centre, Karachi, Pakistan.
FCPS, Jinnah Post Graduate Medical Centre, Karachi, Pakistan.
Ann Med Surg (Lond). 2025 Jun 16;87(8):5261-5267. doi: 10.1097/MS9.0000000000003503. eCollection 2025 Aug.
Cushing's disease in young-onset cases is a rare and diagnostically challenging endocrinopathy, most commonly caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary adenoma. Early recognition and management are crucial to preventing long-term complications associated with hypercortisolism. This report highlights the case of a pediatric patient with Cushing's disease, emphasizing diagnostic challenges and treatment considerations.
We present the case of a 14-year-old male from Kashmore with a 4-year history of progressive truncal obesity, growth failure, and episodic headaches. Clinical evaluation revealed hallmark cushingoid features, including moon facies, dorsocervical and supraclavicular fat accumulation, acanthosis nigricans, and hypertension. A hormonal assessment confirmed hypercortisolism, and magnetic resonance imaging (MRI) revealed a 0.9 cm pituitary microadenoma.
Cushing's disease in pediatric patients presents unique diagnostic and therapeutic challenges due to its rarity and insidious onset. First-line treatment for pituitary-dependent Cushing's disease is transsphenoidal surgery; however, in cases where surgery is declined or contraindicated, alternative therapies such as medical management and radiosurgery become viable options. In this case, Gamma Knife radiosurgery (GKRS) led to significant clinical improvements, including weight loss and biochemical remission. However, the patient later developed adrenal insufficiency, necessitating immediate steroid therapy, a known risk associated with successful treatment of hypercortisolism.
GKRS has proven to be an effective treatment for Cushing's disease in younger individuals, both as a standalone therapy and as an adjunct to other interventions. This case underscores the importance of individualized treatment approaches and close post-treatment monitoring for potential complications such as adrenal insufficiency.
青少年期库欣病是一种罕见且诊断具有挑战性的内分泌疾病，最常见的病因是分泌促肾上腺皮质激素（ACTH）的垂体腺瘤。早期识别和治疗对于预防与皮质醇增多症相关的长期并发症至关重要。本报告重点介绍了一名患有库欣病的儿科患者的病例，强调了诊断挑战和治疗考量。
我们报告一例来自卡什莫尔的14岁男性患者，有4年进行性躯干肥胖、生长发育迟缓及发作性头痛病史。临床评估发现典型的库欣样特征，包括满月脸、颈背部和锁骨上脂肪堆积、黑棘皮病和高血压。激素评估证实存在皮质醇增多症，磁共振成像（MRI）显示垂体有一个0.9厘米的微腺瘤。
儿科患者的库欣病因其罕见性和隐匿性发作而带来独特的诊断和治疗挑战。垂体依赖性库欣病的一线治疗是经蝶窦手术；然而，在拒绝手术或手术禁忌的情况下，药物治疗和放射外科等替代疗法成为可行选择。在本病例中，伽玛刀放射外科手术（GKRS）带来了显著的临床改善，包括体重减轻和生化缓解。然而，患者后来出现肾上腺功能不全，需要立即进行类固醇治疗，这是成功治疗皮质醇增多症的已知风险。
GKRS已被证明是治疗年轻个体库欣病的有效方法，既可以作为单一疗法，也可作为其他干预措施的辅助手段。本病例强调了个体化治疗方法以及密切监测治疗后潜在并发症如肾上腺功能不全的重要性。
