针对伴有新型变异相关的卡尼综合征的小儿周期性库欣综合征行单侧肾上腺切除术
Unilateral Adrenalectomy for Pediatric Cyclical Cushing Syndrome with Novel Variant Associated Carney Complex.
作者信息
Zhang Chris J, Stein Robert, Saleh Maha, Wang Peter, Seemann Natashia, Babalola Funmbi
机构信息
Schulich School of Medicine and Dentistry, Western University, London, ON, Canada N6A 5W9.
Division of General Surgery, London Health Sciences Centre, London, ON, Canada N6A 5W9.
出版信息
JCEM Case Rep. 2025 Jul 11;3(8):luaf155. doi: 10.1210/jcemcr/luaf155. eCollection 2025 Aug.
Primary pigmented nodular adrenocortical disease is a rare cause of Cushing syndrome accounting for less than 1% of cases. We present a 9-year-old boy who presented at age 4 with cyclical Cushing syndrome and was eventually diagnosed with a novel, previously unreported, unpublished variant in associated with Carney complex. He was treated with unilateral left adrenalectomy. At 1-year follow-up, he continues to be in remission of his symptoms of Cushing syndrome.
原发性色素沉着性结节性肾上腺皮质疾病是库欣综合征的一种罕见病因，占病例不到1%。我们报告一名9岁男孩，他4岁时出现周期性库欣综合征，最终被诊断出与卡尼综合征相关的一种新的、此前未报告和发表的变异型。他接受了左侧肾上腺切除术。在1年的随访中，他的库欣综合征症状持续缓解。
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