中枢性性早熟合并原发性色素沉着性结节性肾上腺皮质病一例报道  

Central precocious puberty with primary pigmented nodular adrenocortical disease:One case report

作　　者：朱铭强[1] 董关萍[1] 黄轲[1] 陈雪峰[1] 张黎[1] 戴阳丽[1] 袁金娜[1] 吴蔚[1] Zhu Mingqiang;Dong Guanping;Huang Ke;Chen Xuefeng;Zhang Li;Dai Yangli;Yuan Jinna;Wu Wei(Department of Endocrinology,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《中华内分泌代谢杂志》2021年第3期240-244,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：2018国家卫生计生委科学研究基金-浙江省医药卫生重大科技计划重大项目(WKJ-ZJ-1804)。

摘　　要：报道1例中枢性性早熟合并原发性色素沉着性结节性肾上腺皮质病(primary pigmented nodular adrenocortical disease, PPNAD)的临床、影像及病理特点,结合有关文献对PPNAD进行回顾性分析。患儿发现阴毛出现1年余。入院体格检查有库欣综合征表现。血促肾上腺皮质激素(ACTH)减低,血皮质醇节律紊乱,24 h尿游离皮质醇升高,大剂量地塞米松抑制试验后尿游离皮质醇反常性升高,肾上腺增强计算机断层扫描(CT)提示双侧肾上腺多发小结节状影。促性腺激素释放激素(GnRH)激发试验支持中枢性性早熟,予GnRH类似物控制性发育。行左侧肾上腺切除术,病理支持PPNAD。术后患儿库欣综合征症状有所缓解。To report the clinical,imaging,and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD),and to conduct a retrospective analysis of PPNAD with relevant literatures.The pubic hair was found in the child for more than one year.Physical examination showed Cushing′s syndrome.ACTH in blood decreased,cortisol rhythm was disordered,24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test.Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands.Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development.PPNAD was supported by pathology result.The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

关 键 词：中枢性性早熟 非ACTH依赖性库欣综合征 原发性色素沉着性结节性肾上腺皮质病 Carney综合征 

分 类 号：R725.8[医药卫生—儿科]