XO/XY嵌合型性腺发育不全(附9例报告)

混合型性腺发育不全的定义:一侧性腺为发育不全的睾丸,一侧为条索状,染色体核型45,X/46,XY。本组9例嵌合体核型45,X/46,XY有多种表型与性腺病理。社会性别女8例,男1例;9例均有Turner综合征表现,5例合并阴蒂增大,2例有泌尿生殖窦。术中见双侧条索状性腺6例;一侧发育不全睾丸,一侧条索状性腺2例;与一侧为发育不全卵睾,一侧条索状性腺1例。病理检查一侧发育不全睾丸5例,对侧卵巢间质3例,Leydig与门细胞各1例;3例双侧为卵巢间质,其中1例一侧有原始卵泡,2例性腺染色体均为45,X;1例一侧性腺为卵睾,另一侧为卵巢间质。XO/XY嵌合型性腺发育不全从表型、性腺与病理表现均为多样化,唯有染色体核型一致为45,X/46,XY,因而采用XO/XY嵌合体性腺发育不全为此类患者的名称。本组3例已发生性腺母细胞与支持细胞肿瘤。全部行性腺与子宫切除术。

XO/XY gonadal dysgenesis: report of 9 cases

Mixed gonadal dysgenesis has been described as an intersex abnormality characterized by a streak gonad and an underdeveloped festis on the contralateral side with karyotype of 45,X/46,XY mosiacism. 9 cases were encountered with a variety of phenotype and gonadal histology. Social sex female in 8 and male in 1. All showed signs of Turner's syndrome, 5 with enlarged clitoris and 2 with urogenital sinus . During operation 6 cases showed bilateral streak gonads; a streak and an underdeveloped testis in 2; and a streak and an underdeveloped ovotestis in 1. Upon pathological examination, underdeveloped testis on one side in 5, ovarian stroma on the other side in 3 and Leydig and hilus cells in the other 2 s bilateral ovarian stroma in 3 and in 1 showed presence of primary ovarian follicles,and in 2 the karyotype of gonads were 45 ,X;in one case there was an underdeveloped ovotestis and ovarian stroma on the other side. XO/XY individuals showed a variety of phenotype, gonads and pathological findings,only common in karyotype. So we suggest the name for this group:XO/XY gonadal dysgenesis. Gonadoblastoma and sertoli cell tumors were present in 3 cases all had oophorectomy and hysterectomy.