46,XY单纯性腺发育不全的治疗(附2例报告)

THE TREATMENT OF PURE 46,XY GONADAL DYSGENESIS:A REPORT OF TWO CASES

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。

Objective To study the causes, clinical manifestations and therapy of pure 46, XY gonadal disgenesis. Methods Clinical data of two cases with pure 46, XY gonadal disgenesis were analyzed. Results On 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. Conclusion Chromosome 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.