Vidmar Alaina P, Kaiser Linus, Martin Matthew J, Abel Stuart, Kim Aimee G, Weitzner Madeleine, Muñoz Cynthia E, Fisher Lynda K, Kim Mimi S, Samakar Kamran
Department of Pediatrics, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, 4650 Sunset Boulevard, Mailstop #61, Los Angeles, CA, 90027, USA.
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
J Med Case Rep. 2025 Jan 25;19(1):37. doi: 10.1186/s13256-025-05047-y.
Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management. Despite this, there is limited literature on effective obesity management strategies in congenital adrenal hyperplasia patients, emphasizing the need for comprehensive care approaches.
We present the case of an 18-year-old Hispanic male with classic congenital adrenal hyperplasia and class III obesity, who underwent a multimodal obesity treatment plan. Diagnosed shortly after birth, he experienced rapid weight gain starting at the age of 2 years, with his body mass index escalating to 52.5 kg/m by age 15. Initial interventions included lifestyle modifications and pharmacotherapy with metformin and topiramate, which were ineffective alone. Subsequently, he was treated with semaglutide, achieving an 11% body mass index reduction. Owing to ongoing metabolic dysregulation, he underwent laparoscopic sleeve gastrectomy at the age of 17 years. The surgery was well tolerated, with careful intraoperative glucocorticoid management. Post-surgery, he experienced significant improvements in body mass index, hunger, and satiety, along with a reduction in emotional overeating.
This case highlights the potential of an integrative, multidisciplinary approach to address severe obesity and its associated comorbidities in patients with classic congenital adrenal hyperplasia. The successful outcomes from both pharmacotherapy and bariatric surgery suggest that tailored obesity management strategies can optimize health in this unique population, reinforcing the need for further research into comprehensive obesity care in individuals with congenital adrenal hyperplasia.
经典型先天性肾上腺皮质增生症主要由于21-羟化酶缺乏，导致皮质醇和醛固酮生成受损以及肾上腺雄激素过量。需要终身糖皮质激素治疗，在青少年时期通常需要超生理剂量来控制雄激素过量和生长加速。这些患者肥胖率、高血压和糖代谢问题较高，使长期健康管理变得复杂。尽管如此，关于先天性肾上腺皮质增生症患者有效肥胖管理策略的文献有限，强调需要综合护理方法。
我们报告一例18岁西班牙裔男性，患有经典型先天性肾上腺皮质增生症和III级肥胖，接受了多模式肥胖治疗方案。出生后不久被诊断出，他从2岁开始体重迅速增加，到15岁时体重指数升至52.5kg/m。初始干预措施包括生活方式改变以及使用二甲双胍和托吡酯进行药物治疗，但单独使用均无效。随后，他接受司美格鲁肽治疗，体重指数降低了11%。由于持续存在代谢失调，他在17岁时接受了腹腔镜袖状胃切除术。手术耐受性良好，术中糖皮质激素管理谨慎。术后，他的体重指数、饥饿感和饱腹感有显著改善，情绪性暴饮暴食也有所减少。
本病例强调了综合、多学科方法在解决经典型先天性肾上腺皮质增生症患者严重肥胖及其相关合并症方面的潜力。药物治疗和减肥手术的成功结果表明，量身定制的肥胖管理策略可以优化这一特殊人群的健康状况，强化了对先天性肾上腺皮质增生症患者综合肥胖护理进行进一步研究的必要性。
