79例XY性腺发育异常患者性腺肿瘤发生情况分析

目的 探讨表型为女性、染色体含有Y或Y成分的性腺发育异常患者的性腺肿瘤发生情况.方法 1989年10月至2005年12月间于北京协和医院妇产科因性腺发育异常手术切除双侧性腺的患者共79例,所有患者均取外周血进行淋巴细胞染色体核型分析、Y基因性决定区检测以及相关激素和酶检测,影像学检查了解性腺位置.行经腹或腹腔镜下性腺切除术,所有手术标本均行病理检查.结果 79例患者中,雄激素不敏感综合征患者41例,其中发生精原细胞瘤1例、支持细胞腺瘤2例,占7%;170r羟化酶缺乏症患者14例,其中发生支持细胞腺瘤1例,占7%;XY单纯性腺发育不全患者4例,其中发生性腺母细胞瘤及无性细胞瘤1例,占1/4;XO/XY性腺发育不全患者16例,其中发生精原细胞瘤及性腺母细胞瘤1例,占6%;睾丸退化患者4例中无肿瘤发生.发生肿瘤的性腺多位于盆腔内,发生肿瘤的年龄集中于15～23岁.结论 表型为女性、染色体含有Y或Y成分的性腺发育异常患者易发生性腺母细胞瘤和生殖细胞肿瘤,一旦确诊宜及早切除双侧性腺.

Identification of potential neoplastic risk in gonadal development abnormality with Y chromosome of 79 cases

Objective To identify the potential neoplastic risk in gonadal development abnormality with Y chromosome.Methods Inquiries about the illness history were made.Lymphocyte chromosoreal karyotype of peripheral blood Was analyzed.Sex determining region Y gene and relative steroids and enzymes were detected.Gonadal site was examined through medical imaging.Conadal excision Was performed by laparotomy or laparoscopy.Pathological examinations were done on all of the specimens.Results Among 41 cases of androgen insensitive syndrome,spermatogenie cell neoplasm occurred in 1 patient,sertoli cell tumor in 2,and interstitial cell hyperplasia in 5.Among 14 cases of 17a.hydroxylase deficiency(XY)syndrome,one was sertoli eell tumor,and one Was sertoli cell hyperplasia.In 4 cases of XY pure gonadal dysgenesis.one was gonadoblastoma with dysgerminomm One of 16 cases of X0/XY gonadal dysgenesis Was spermatogenic cell neoplasm with agenda cell tumor.Four cases of testes degeneration were all with dysgenetic testes.All of the gonadoblastoma and germ-cell tumor were located in the pelvis.Tumors occurred mostly during 15 years of age to 32 years.Conclusions The gonads of XY pure gonadal dysgenesis has high risks of gonadoblastoma and germ-cell tumor.The older the onset age after puberty. the higher the malignancy risk is.Once diagnosed,bilateral gonads should be excised as soon as possible.