Open AccessOvarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report
Author(s) -
Deepa V. Kanagal,
Kishan Prasad,
Aparna Rajesh,
Rohan G Kumar,
Sara Cherian,
Harish Shetty,
Prakashchandra Shetty
Publication year - 2013
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2013/6412.3393
Subject(s) - gonadoblastoma , dysgerminoma , gonadal dysgenesis , karyotype , girl , biology , pathology , medicine , endocrinology , ovary , chromosome , genetics , gene
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.