核型为46, XX的年轻女孩中的卵巢性腺母细胞瘤伴无性细胞瘤：一例报告
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report.
作者信息
Kanagal Deepa V, Prasad Kishan, Rajesh Aparna, Kumar Rohan G, Cherian Sara, Shetty Harish, Shetty Prasanna Kumar
机构信息
Associate Professor, Department of Obstetrics and Gynaecology, K.S. Hegde Medical Academy .
出版信息
J Clin Diagn Res. 2013 Sep;7(9):2021-2. doi: 10.7860/JCDR/2013/6412.3393. Epub 2013 Aug 10.
Abstract
Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells. It usually arises in various types of gonadal dysgenesis containing Y chromosome like pure or mixed gonadal dysgenesis. Occurrence in phenotypically and chromosomally normal women is very rare. We report here a case of gonadoblastoma with dysgerminoma in a 14-years-old girl who presented with a huge tumour, virilisation and normal 46XX karyotype. Association of dysgerminoma is seen in 50% cases of gonadoblastomas. Elevated tumour markers like hCG and alpha Fetoprotein may make the diagnosis challenging.
摘要
性腺母细胞瘤是一种罕见的性腺肿瘤，由生殖细胞和类似于未成熟颗粒细胞及支持细胞的性索间质衍生物混合组成。它通常发生于各种含有Y染色体的性腺发育不全类型，如单纯型或混合型性腺发育不全。在表型和染色体正常的女性中发生极为罕见。我们在此报告一例14岁女孩的性腺母细胞瘤合并无性细胞瘤病例，该女孩表现为巨大肿瘤、男性化及正常的46XX核型。在50%的性腺母细胞瘤病例中可见无性细胞瘤合并存在。hCG和甲胎蛋白等肿瘤标志物升高可能使诊断具有挑战性。
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