46,XY单纯性腺发育不全7例临床及超声分析  

Clinical manifestation and ultrasonic analysis of 7 cases of 46,XY pure gonadal disgenesis

作　　者：丰玉[1] 姚英[1] 任芸芸[1] 

机构地区：[1]复旦大学附属妇产科医院超声科,上海200090

出　　处：《肿瘤影像学》2016年第2期182-185,共4页Oncoradiology

摘　　要：目的:总结超声检查对染色体核型为46,XY单纯性腺发育不全病例诊断的思路,探讨超声检查在提高该病临床认识和指导治疗中的价值。方法:回顾性分析2011年1月—2015年12月复旦大学附属妇产科医院收治的7例染色体核型为46,XY单纯性腺发育不全病例,总结患者的病史资料、专科检查及超声等辅助检查、手术情况、术后病理诊断等。结果:7例患者的智力发育均正常,原发闭经,女性第二性征未发育,阴毛腋毛无或稀少,乳房不发育,内外生殖器发育幼稚。超声检查幼稚子宫或缺如,双侧输卵管无或仅为条索状。术中可见子宫发育不良或缺如、输卵管发育欠佳或条索状性腺组织。术后病理诊断3例伴发无性细胞瘤和(或)性腺母细胞瘤。结论:超声检查作为无创检查手段,对筛查46,XY单纯性腺发育不全患者的子宫、卵巢、输卵管、前列腺、精囊、输精管等内生殖器官有无及解剖部位、大小、发育情况、形态结构等有较大优势,在明确诊断、术前检查、术后复查中有重要临床价值。Objective：To evaluate the ultrasonographic features of 46,XY pure gonadal disgenesis, and to investigate the value of ultrasound in the diagnosis of this disease.Methods：Seven cases of 46,XY pure gonadal disgenesis from Obstetrics and Gynecology Hospital of Fudan University were retrospectively analyzed during 2011-2015. The patients’ medical histories, specialized examinations, ultrason examinations, surgery, postoperative pathological examinations, etc. were analyzed.Results：All the patients had normal intellectual development, primary amenorrhea, no development of female secondary sexual characteristics, no or few pubic hair or armpit hair, no breast development, and infantile internal and external genital organs. Ultrasound showed infantile uterus or absent, no bilateral fallopian tubes or only a streak gonad. Dysplasia or absence of uterus, dysplasia of fallopian tubes or only a streak gonad were visible intraoperatively. Pathological examinations showed 3 cases with dysgerminoma and （or） gonadoblastoma.Conclusion：As a noninvasive examination method, ultrasonography has a great advantage in the dianosis of 46,XY pure gonadal disgenesis by displaying the uterus, ovaries, prostate, seminal vesicle and fallopian tubes. It is of great value in the preoperative examination and postoperative follow-up of the disease.

关 键 词：46 XY单纯性腺发育不全 超声检查 彩色多普勒 

分 类 号：R445.1[医药卫生—影像医学与核医学]