Wang Baofeng, Zhang Hongchi, Su Tingwei, Ren Jie, Sun Qingfang, Sun Yuhao, Bian Liuguan
Department of Neurosurgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Endocrinology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Front Endocrinol (Lausanne). 2025 Sep 3;16:1663624. doi: 10.3389/fendo.2025.1663624. eCollection 2025.
Pediatric Cushing's disease (CD) is exceptionally rare and poses significant diagnostic and therapeutic challenges. This study aimed to review the diagnostic features and to evaluate the long-term surgical outcomes of transsphenoidal surgery (TSS) in Pediatric CD patients at a single tertiary center in China over two decades.
A retrospective analysis included 22 pediatric CD patients (10 male, 12 female; mean age 15.8 ± 2.5 years) who underwent TSS between 2002 and 2022. Diagnosis was established through a multidisciplinary protocol involving standardized biochemical testing (LDDST, HDDST), bilateral inferior petrosal sinus sampling (BIPSS) with desmopressin stimulation (n=19), and high-resolution pituitary MRI. Microscopic TSS (MTSS) was performed before 2016 (n=11) and endoscopic TSS (ETSS) thereafter (n=11). Surgical strategy was guided by MRI and BIPSS findings. Immediate remission was defined as a postoperative serum cortisol nadir <5 μg/dL or normal 24-h urinary free cortisol (UFC). Recurrence was defined as the reappearance of hypercortisolism after remission. Mean follow-up was 29.4 months (range 2-129).
MRI identified the adenoma in 18/22 patients (81.8%; 16 microadenomas, 2 macroadenomas). BIPSS indicated lateralization in 14/19 patients (73.7%), with concordance between BIPSS and MRI lateralization in 57.9% (11/19) of cases. Immediate postoperative remission was achieved in 20 patients (90.9%). The two non-remitters (one macroadenoma, one MRI- and pathology-negative) received additional therapies. Among the 20 patients with initial remission, 2 (10.0%) developed recurrence (one microadenoma, one MRI-negative) during follow-up. The sustained long-term remission rate was 81.8% (18/22).
Transsphenoidal surgery represents a highly effective first-line treatment for pediatric CD, achieving high rates of immediate (90.9%) and long-term remission (81.8%) in a specialized center. A meticulous diagnostic approach incorporating BIPSS is crucial, particularly for MRI-negative cases. While recurrence occurred in a minority of patients, primarily those with microadenomas, durable disease control is attainable for the majority with appropriate surgical management. The transition to endoscopic techniques was feasible and effective.
儿童库欣病（CD）极为罕见，带来了重大的诊断和治疗挑战。本研究旨在回顾诊断特征，并评估中国一家三级中心二十多年来小儿CD患者经蝶窦手术（TSS）的长期手术效果。
一项回顾性分析纳入了2002年至2022年间接受TSS的22例小儿CD患者（男10例，女12例；平均年龄15.8±2.5岁）。通过多学科方案确诊，包括标准化生化检测（LDDST、HDDST）、去氨加压素刺激下的双侧岩下窦采血（BIPSS，n=19）以及高分辨率垂体MRI。2016年前进行了显微镜下经蝶窦手术（MTSS，n=11），之后进行了内镜经蝶窦手术（ETSS，n=11）。手术策略根据MRI和BIPSS结果制定。即刻缓解定义为术后血清皮质醇最低点<5μg/dL或24小时尿游离皮质醇（UFC）正常。复发定义为缓解后皮质醇增多症再次出现。平均随访29.4个月（范围2 - 129个月）。
MRI在18/22例患者（81.8%；16例微腺瘤，2例大腺瘤）中发现了腺瘤。BIPSS显示14/19例患者（73.7%）有侧别定位，BIPSS与MRI侧别定位的一致性为57.9%（11/19）。20例患者（90.9%）术后即刻缓解。两名未缓解者（1例大腺瘤，1例MRI及病理检查均为阴性）接受了额外治疗。在20例初始缓解的患者中，2例（10.0%）在随访期间复发（1例微腺瘤，1例MRI阴性）。长期持续缓解率为81.8%（18/22）。
经蝶窦手术是小儿CD的一种高效一线治疗方法，在专业中心可实现较高的即刻缓解率（90.9%）和长期缓解率（81.8%）。采用包括BIPSS在内的细致诊断方法至关重要，尤其是对于MRI阴性的病例。虽然少数患者出现复发，主要是微腺瘤患者，但通过适当的手术管理，大多数患者可实现持久的疾病控制。向内镜技术的转变是可行且有效的。
