Abstract
Gonadoblastoma is a rare gonadal tumor composed of sex cord cells and primitive germ cells. While the majority of gonadoblastomas are found in individuals with 46,XY gonadal dysgenesis, they are also rarely seen in patients with a 46,XX karyotype. We report a case of a 14.5 year-old girl presenting with an uncommon cause of virilization; a virilizing ovarian tumor. The patient underwent bilateral salpingo-oophorectomy. Upon histopathological examination, the excised tumor was confirmed to be bilateral gonadoblastoma, with dysgerminoma on the left side. Malignant gonadal tumors should be considered in cases of primary gonadal insufficiency with a 46,XX karyotype and progressive virilization. Even when laboratory and imaging tests show no abnormalities, a gonadal biopsy should be considered.
Keywords: Dysgerminoma, gonadoblastoma, virilization, XX gonadal dysgenesis
Read the full text
4 sections · 1 figure · 2 tables · PDF
Create your free account to read the full text.
- Full text with figures and tables
- PDF and supplementary files
- Access on every Galenos journal
One Galenos account works on every Galenos journal site.
References
Scully RE. Gonadoblastoma; a gonadal tumor related to the dysgerminoma (seminoma) and capable of sex-hormone production. Cancer. 1953;6:455-463.
Kim M-J, Ahn H-J, Kim J-Y, Kim K-R. Gonadoblastoma overgrown by dysgerminoma in women with 46, XX karyotype. The Korean Journal of Pathology. 2003;37:66-70.
Pratt-Thomas HR, Cooper JM. Gonadoblastoma with tubal pregnancy. Am J Clin Pathol. 1976;65:121-125.
Ferrari MTM, Silva ESDN, Nishi MY, Batista RL, Mendonca BB, Domenice S. Testicular differentiation in 46,XX DSD: an overview of genetic causes. Front Endocrinol (Lausanne). 2024;15:1385901.
Costanzo M, Touzon MS, Marino R, Guercio G, Ramirez P, Mattone MC, Pérez Garrido N, Bailez MM, Vaiani E, Ciaccio M, Galluzzo Mutti ML, Belgorosky A, Berensztein E. Gonadal tumor development in 46,XX disorders of gonadal development. Eur J Endocrinol. 2022;187:451-462.
Looijenga LH, Hersmus R, Oosterhuis JW, Cools M, Drop SL, Wolffenbuttel KP. Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2007;21:480-495.
Obata NH, Nakashima N, Kawai M, Kikkawa F, Mamba S, Tomoda Y. Gonadoblastoma with dysgerminoma in one ovary and gonadoblastoma with dysgerminoma and yolk sac tumor in the contralateral ovary in a girl with 46XX karyotype. Gynecol Oncol. 1995;58:124-128.
Erhan Y, Toprak AS, Ozdemir N, Tiras B. Gonadoblastoma and fertility. J Clin Pathol. 1992;45:828-829.
Zhao S, Kato N, Endoh Y, Jin Z, Ajioka Y, Motoyama T. Ovarian gonadoblastoma with mixed germ cell tumor in a woman with 46, XX karyotype and successful pregnancies. Pathol Int. 2000;50:332-335.
Yilmaz B, Gungor T, Bayramoglu H, Soysal S, Mollamahmutoglu L. Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. J Obstet Gynaecol Res. 2010;36:697-700.
Koo YJ, Chun YK, Kwon YS, Lee IH, Kim TJ, Lee KH, Lim KT. Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. Pathol Int. 2011;61:171-173.
Erdemoglu E, Ozen S. Ovarian gonodoblastoma with yolk sac tumor in a young 46, XX female: case report. Eur J Gynaecol Oncol. 2007;28:516-518.
Esin S, Baser E, Kucukozkan T, Magden HA. Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. Arch Gynecol Obstet. 2012;285:447-451. Epub 2011 Aug 31
Kanagal DV, Prasad K, Rajesh A, Kumar RG, Cherian S, Shetty H, Shetty PK. Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. J Clin Diagn Res. 2013;7:2021-2022. Epub 2013 Aug 10
Kulkarni MM, Sinai Khandeparkar SG, Joshi AR, Bhayekar PV. Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. Indian J Pathol Microbiol. 2016;59:527-529.
McCuaig JM, Noor A, Rosen B, Casper RF, Mitri F, Colgan T, Kim RH. Case Report: Use of tumor and germline Y chromosomal analysis to guide surgical management in a 46, XX female presenting with gonadoblastoma with dysgerminoma. Int J Gynecol Pathol. 2017;36:466-470.
Roth LM, Davis MM, Czernobilsky B. Classic and “dissecting” gonadoblastoma in a phenotypic girl with a 46, XX peripheral karyotype and no evidence of a disorder of sex development. Int J Gynecol Pathol. 2019;38:581-587.
Raafey MA, Abdulwaasey M, Fatima SS, Uddin Z, Tariq MU. Bilateral gonadoblastoma with dysgerminoma in a phenotypically normal female with 46XX karyotype: report of a rare case and literature review. Cureus. 2020;12:e8990.
Chandrapattan P, Jena A, Patnayak R, Mangaraj S, Naik S, Panda S. Gonadoblastoma with dysgerminoma presenting as virilizing disorder in a young child with 46, XX karyotype: a case report and review of the literature. Case Rep Endocrinol. 2022;2022:5666957.
Yin M, Yang J, Tian Q, Zhang X. Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review. Front Endocrinol (Lausanne). 2022;13:989695.
