Lange A, Wieacker P, Schnabel R, Schweikert H U, Schumann K
Gebh. Gyn. Abt. Ev. Krankenhaus Herne, Universität Magdeburg.
Zentralbl Gynakol. 1998;120(11):555-8.
This is a case report of 46 xy gonadal dysgenesis (Swyer-syndrome) with bilateral androgen producing gonadoblastoma in streak gonads in a 15-year-old patient. The presenting features were: hypergonadotrophic hypogonadism, male pseudohermaphroditism and virilisation. A hypoplastic uterus with normal looking Fallopian tubes and bilateral adnexal tumors were detected through laparoscopy. A laparotomy was performed and the streak gonads with bilateral gonadoblastoma were removed. This led to a normalisation of serum testosterone and serum beta-HCG levels and an amelioration of signs of virilisation. Uterus and fallopian tubes were conserved during the operation. A second look laparoscopy 6 months later showed no evidence of recurrent tumor. No mutation were found in the sex-determining gene (SRY) on DNA-screening using SSCP assay.
这是一例关于一名15岁患者的46，XY性腺发育不全（斯维尔综合征）病例报告，其条索状性腺中存在双侧产生雄激素的性腺母细胞瘤。主要临床表现为：高促性腺激素性性腺功能减退、男性假两性畸形和男性化。通过腹腔镜检查发现子宫发育不全，输卵管外观正常，双侧附件区有肿瘤。随后进行了剖腹手术，切除了双侧性腺母细胞瘤的条索状性腺。这使得血清睾酮和血清β-人绒毛膜促性腺激素水平恢复正常，男性化体征得到改善。手术过程中保留了子宫和输卵管。6个月后再次进行腹腔镜检查，未发现肿瘤复发迹象。使用单链构象多态性分析（SSCP）法进行DNA筛查时，在性别决定基因（SRY）上未发现突变。
