先天性肾上腺增生症伴双侧睾丸残基瘤1例报道并文献复习  

Congenital adrenal hyperplasia with bilateral testicular residual tumors:a case report and literature review

作　　者：周玲 王江涛 张蓓 ZHOU Ling;WANG Jiangtao;ZHANG Bei(Department of Radiology,Affiliated Hospital of Hubei University of Arts and Science Xiangyang Central Hospital,Xiangyang,Hubei 441021,China)

机构地区：[1]湖北文理学院附属医院/襄阳市中心医院放射影像科

出　　处：《重庆医学》2020年第4期595-598,共4页Chongqing medicine

摘　　要：目的探讨先天性肾上腺增生症伴双侧睾丸残基瘤的临床特点与影像表现。方法回顾分析1例男性先天性肾上腺增生症伴双侧睾丸残基瘤患儿的临床、检验及其影像资料,总结其临床特征及治疗经验。结果患儿CT提示双侧肾上腺增生,密度均匀。睾丸超声与MRI提示:双侧睾丸增大,形态尚可,双侧睾丸T2WI信号弥漫性减低;超声示实质回声不均匀,可见多发低回声区,其中较大者分别为1.1 cm×0.8 cm、1.0 cm×0.9 cm。结论先天性肾上腺增生症最常见由CYP21A2基因突变导致2l-羟化酶活性下降,引起的糖皮质激素和(或)盐皮质激素合成不足,进而刺激肾上腺组织的增生,还会使部分患者并发睾丸肾上腺残余瘤,该疾病需要多学科的联合诊治。Objective To investigate the clinical features and imaging findings of congenital adrenal hyperplasia with bilateral testicular residual tumors.Methods A case of male congenital adrenal hyperplasia with bilateral testicular residual tumors,examination and imaging data retrospective analysis,and its clinical features and treatment experience summarized.Results CT showed Bilateral adrenal hyperplasia with uniform density.MRI showed Bilateral testicular enlargement,and diffuse reduction of T2WI signal in bilateral testes.Ultrasonic showed Bilateral adrenal echo unevenness,and multiple hypoechoic regions were visible,the larger of them was 1.1 cm×0.8 cm,1.0 cm×0.9 cm.Conclusion Congenital adrenal hyperplasia is a family of autosomal recessive disorders.The most common mutation in CYP21A2 gene leads to a decrease in 21-hydroxylase activity,and insufficient synthesis of glucocorticoids and/or mineralocorticoids to promote proliferation of adrenal tissue,and stimulate the proliferation of adrenal tissue,and some patients will have testicular adrenal residual tumors.The disease requires multidisciplinary joint diagnosis and treatment.

关 键 词：肾上腺皮质 先天性肾上腺皮质增生症 21羟化酶缺乏症 睾丸残基瘤 

分 类 号：R816.7[医药卫生—放射医学]