5例性发育异常合并异位肾上腺组织的临床分析  

Clinical analysis of 5 patients with disorder of sexual development and ectopic adrenal tissue

作　　者：史精华[1] 黄禾[1] 钟定荣[1] 陈博[1] 陈蓉[1] 田秦杰[1] SHI Jing-hua;HUANG He;ZHONG Ding-rong;CHEN Bo;CHEN Rong;TIAN Qin-jie(Department of Gynecology D Obstetrics,Peking Union Medical College Hospital,Peking Union Medical College Chinese Acaolemg of Medical Sciences,Beijing 100730)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院妇产科,北京100730

出　　处：《生殖医学杂志》2018年第7期607-612,共6页Journal of Reproductive Medicine

基　　金：国家自然科学基金项目(81671424)

摘　　要：目的探讨性发育异常患者合并异位肾上腺的临床特点、诊断和治疗。方法收集本院妇产科于2007年8月至2017年8月行手术治疗的139例性发育异常患者的临床资料,其中合并异位肾上腺组织5例,对其病例资料进行回顾性分析。结果 139例性发育异常并在我院手术的患者中有5例(3.60%)切除性腺组织内存在异位肾上腺组织成分。5例患者中一例为45,X,SRY(+)合并无性细胞瘤,4例为46,XY,其中3例17α羟化酶缺乏,1例为单纯性腺发育不全(PGD)。所有患者社会性别均为女性,染色体均含Y成分。术前各项检查均未发现有异位肾上腺组织成分及特殊临床表现,诊断均为术后病理证实,术后恢复良好。2例17α羟化酶缺乏患者术后继用糖皮质激素用量较术前略减少,1例术前未用药,术后用药后促肾上腺皮质激素(ACTH)降至正常。术后性激素补充治疗生长发育良好,2例青春期患者雌孕激素序贯疗法均有规律月经周期。结论发育不良的性腺合并异位的肾上腺组织发病率极低,术前不容易发现,诊断主要依靠术后病理。异位的肾上腺组织多为无功能性,应予以切除。Objective：To summaries the characteristics,diagnosis and management of the patients with disorders of sex development（DSD）and ectopic adrenal tissue.Methods： A total of 139 DSD patients underwent surgery in Peking Union Medical College Hospital from Aug 2007 to Aug 2017.Among them,5 patients were complicated with ectopic adrenal tissue and their clinical and pathology manifestation were analyzed.Results：Of the 139 DSD patients had surgery in our hospital,5 patients（3.60%）had ectopic adrenal components in the resection of gonads.All the 5 patients were female phenotype with Y chromosome or SRY gene.One patient was 45,X,SRY（＋）with dysgerminoma;the rest four patients were 46,XY,of whom three were diagnosed with 17-alpha-hydroxylase deficiency（17-OHD）,one was pure gonadal dysgenesis（PGD）.No ectopic adrenal components and specific clinical manifestations were found before surgery.The diagnosis was confirmed by postoperative pathology and the postoperative recovery was good.Two patients with 17-OHD received lower dosage of glucocorticoid after the surgery in the follow-up.One patient had no medication before surgery,and ACTH was returned to normal after the drug was administered.Hormone replacement therapy was given to maintain growth and development.Two adolescent treated with estrogen and progesterone sequential therapy had regular menstrual cycle.Conclusions： The incidence of dysplasia gonad with ectopic adrenal tissue in DSD patients is lower.The ectopic adrenal tissue is hardly found pre-surgery,and its diagnosis relies on pathology.Ectopic adrenal tissue is mostly nonfunctional and should be removed.

关 键 词：性发育异常 异位肾上腺皮质组织 发育不良的性腺 

分 类 号：R713[医药卫生—妇产科学]