21-羟化酶缺陷症伴睾丸肾上腺残余瘤3例诊治并文献复习  

Diagnosis and treatment of 21-hydroxylase deficiency with testicular adrenal rest tumors:a report of three cases and literature review

作　　者：张琪[1,2] 臧丽 张崇玉[1,3] 谷伟军 李冰[1] 贾雄飞[1,4] 陈康 裴育[1] 杜锦[1] 郭清华[1] 巴建明[1] 吕朝晖[1] 窦京涛[1] 母义明[1] Zhang Qi;Zang Li;Zhang Chongyu;Gu Weijun;Li Bing;Jia Xiongfei;Chen Kang;Pei Yu;Du Jin;Guo Qinghua;Ba Jianming;Lyu Zhaohui;Dou Jingtao;Mu Yiming(Department of Endocrinology,the First Medical Center of Chinese PLA General Hospital,Beijing 100853,China;Department of Endocrinology,Buoding Gem Flower Oriental Hospital,Baoding 072550,China;Center for Disease Control and Prevention of Wulian,Wulian 262300,China;Department of Endocrinology,the Hospital of Ordos Traditional Chinese Medicine,Ordos 017010,China)

机构地区：[1]解放军总医院第一医学中心内分泌科,北京100853 [2]河北省保定宝石花东方医院内分泌科,保定072550 [3]山东省五莲县疾病预防控制中心,五莲县262300 [4]内蒙古自治区鄂尔多斯市中医医院内分泌科,鄂尔多斯017010

出　　处：《中华内科杂志》2022年第1期72-76,共5页Chinese Journal of Internal Medicine

摘　　要：目的提高临床医生对21-羟化酶缺陷症(21-OHD)伴睾丸肾上腺残余瘤(TART)的认识水平。方法分析2010年5月至2021年5月解放军总医院第一医学中心确诊的3例男性21-OHD伴TART患者的临床、实验室和影像学资料及其诊治经过,并对临床转归进行随访。结果3例患者均以双侧肾上腺占位首诊;就诊年龄27~42岁,身高145~162 cm。实验室检查均示孕酮、17-羟孕酮(17-OHP)、促肾上腺皮质激素(ACTH)升高。均经CYP21基因检测确诊。1例患者睾酮异常升高,2例患者睾酮降低;3例患者黄体生成素(LH)及卵泡刺激素(FSH)均明显低于正常范围。睾丸超声均示双侧睾丸内高回声肿块。肾上腺CT均显示双侧肾上腺增粗伴占位。3例患者均给予地塞米松治疗,随访4~96个月,患者17-OHP控制在中线以上水平,1例患者经治疗后婚育。双侧肾上腺增生及睾丸肿物均有不同程度的缩小,且两者大小变化呈正比。结论21-OHD患者易合并TART,导致睾丸功能受损。早期使用糖皮质激素治疗有益于缩小TART大小、恢复睾丸功能。Objective To provide insight into the diagnosis for clinicians,the clinical characteristics,diagnosis and treatment history of 3 patients with 21-hydroxylase deficiency(21-OHD)and testicular adrenal rest tumors(TART)were analyzed.Methods The clinical,laboratory and imaging data of 3 male patients with 21-OHD and TART,confirmed with CYP21 gene sequencing,from May 2010 to May 2021 in the First Medical Center of Chinese PLA General Hospital were analyzed retrospectively.The treatment strategy and clinical outcome were followed up.Results All the 3 patients were first diagnosed with bilateral adrenal mass at the age of 27-42 years old.They were 145-162 cm tall.The levels of progesterone,17-hydroxyprogesterone,and adrenocorticotropic hormone(ACTH)of the 3 patients were relatively high,and that of luteinizing hormone(LH)and follicle-stimulating hormone(FSH)of the 3 patients were low.Testosterone level of 1 patient was significantly elevated,and that of the other 2 patients was below the lower limit of normal range.Testicular ultrasound showed heterogeneous hyperechoic masses in both testes.CT of the adrenal glands showed bilateral adrenal enlargement with mass.All 3 patients were treated with dexamethasone.After 4-96 months of follow-up,17-hydroxyprogesterone level was kept above the median normal level.One of the patients got married and had a baby after treatment.The sizes of adrenal hyperplasia and testicular masses reduced to various degrees with the change of the testicular masses being proportional to that of adrenal hyperplasia.Conclusions Patients with 21-OHD are prone to have TART,leading to the impaired testicular function.Early glucocorticold therapy is beneficial to the reduction of TART and restoration of testicular function.

关 键 词：肾上腺皮质疾病 21-羟化酶缺陷症 睾丸肾上腺残余瘤 

分 类 号：R586[医药卫生—内分泌]