46 XY单纯性腺发育不全的治疗 附2例报告

　　【摘要】 目的 探讨46，XY单纯性腺发育不全病人的病因、临床表现及治疗方法。方法 对2例染色体核型为46，XY单纯性腺发育不全病人的临床资料进行分析。结果 2例病人的生长和智力发育均正常，两臂与地平行伸展开两手中指的距离等于身高。原发闭经，青春期有女性第二性征发育，有阴毛、腋毛，乳房发育可。病人均有阴道, 行人工周期月经治疗有效。2例行腹腔探查术，术中均可见到发育不良的子宫、发育欠佳的输卵管、条索状性腺组织以及实性包块。手术切除包块及条索状性腺组织，病理诊断均为无性细胞瘤。结论 对生殖器官发育不良病人应常规行染色体检查;对46，XY单纯性腺发育不全病人应尽早切除性腺，通过性激素替代治疗提高病人生活质量。

　　【关键词】 染色体 人 性腺发育不全 46 XY 染色体畸变

　　THE TREATMENT OF PURE 46, XY GONADAL DYSGENESIS: A REPORT OF TWO CASES WANG FU-LING, PIAO LING-ZHEN(Department of Gynecology, The Affiliated Hospital of Qingdao University Medical College, Qingdao 266003, China) [ABSTRACT]ObjectiveTo study the causes, clinical manifestations and therapy of pure 46, XY gonadal disgenesis. MethodsClinical data of two cases with pure 46,XY gonadal disgenesis were analyzed. ResultsOn examination: normal growth and intelligence, primary amenorrhea, normal secondary sex characters, normal vagina, normal breasts and external genitalia were recorded. A dysplastic uterus and fallopian tubes, streak gonads, and solid mass were seen at laparotomy for the two patients. The mass and streak gonads were resected for histology with the diagnosis of disgerminoma. ConclusionChromosome examination should be conducted as a routine for patients with poorly developed genital organ. For those with pure 46, XY gonadal disgenesis, the sex gland should be removed early, to improve their quality of life by hormone replacement therapy.

　　[KEY WORDS]Chromosomes, human; Gonadal dysgenesis, 46, XY; Chromosome aberration

　　46，XY单纯性腺发育不全属男性假两性畸形，大多数病人以原发性闭经及不孕就诊，而其性腺易发生恶变，应引起临床重视。因本病临床少见，对其可能认识不足，容易延误诊断及治疗。本文对2例该病病人的临床资料进行分析，以期提高该病的诊治水平。

　　1 临床资料

　　1.1 病例报告

　　例1，29岁，已婚，因原发性闭经，不孕3年，发现子宫肌瘤2年于2007年11月入住我院。病人因无自发月经初潮，9年前服用乙菧酚月经初潮，量少，无痛经。4年前超声检查示幼稚子宫，行人工周期月经治疗可来潮。3年前性激素检查：卵泡刺激素(FSH) 23.99 U/L,黄体生成素(LH) 12.00 U/L,雌二醇(E2)20.39 ng/L,睾酮(T)0.354 μg/L,催乳素(PRL) 560 mU/L。2年前超声检查发现子宫肌瘤。染色体检查: 核型为46，XY。病人拒绝手术探查。此次因肌瘤生长迅速而入院手术探查。追问病史，病人17岁时阴毛、腋毛发育，乳房发育稍早。体格检查：身高162 cm，体质量65

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