目的 探讨染色体核型为46,XY单纯性性腺发育不全患者(合并或不合并卵巢肿瘤)的诊断和治疗.方法 分析1991年7月至2011年8月我院收治的6例染色体核型为46,XY单纯性性腺发育不全病例.所有病例均行剖腹探查术或腹腔镜手术.结果 所有患者的临床表现为原发闭经或继发闭经；乳房不发育或发育欠佳；阴毛、腋毛无或稀少；内外生殖器幼稚,有输卵管、卵巢、子宫及阴道.实验室检查FSH,LH均明显高于正常水平；染色体检查为46,XY.手术切除双侧性腺,病理提示6名患者中有4例发生卵巢肿瘤,肿瘤发生率高达66.7％.结论 及时确诊46,XY单纯性性腺发育不全十分重要,确诊后需立即切除双侧性腺以避免肿瘤的发生.%Objective To find a suitable way of diagnosis and treatment for 46, XY pure gonadal dysgenesis (with or without ovarian tumor). Methods A total of 6 cases of 46, XY pure gonadal dysgenesis were included and their clinical manifestations were analyzed from Jul. ,1991 to Aug. ,2011. All of the cases were operated with open surgery or laproscopy. Results The mental development of these cases was normal. All of the cases were primary amenorrhea or secondary amenorrhea with normal vagina, undeveloped breasts and external genitalia. The internal genitalia were small uterus, normal or underdeveloped fallopian tubes and strip like gonads in all of the cases. Gonads were resected during the operation for the prevention of tumor genesis. Pathological sections confirmed that 4 cases (66. 7%) had ovarian tumor. Conclusions For 46, XY gonadal dysgenesis, to diagnosis in time is very important. Resection of the underdeveloped testis located in the abdominal cavity is needed in order to avoid the happening of the tumor.
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