ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2015; 7(4): 336-339 | DOI: 10.4274/jcrpe.2022

Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype

Özge Yüce1, Esra Döğer1, Nurullah Çelik1, Hamdi Cihan Emeksiz1, Mahmut Orhun Çamurdan1, Aysun Bideci1, Peyami Cinaz1
Gazi University Faculty Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey

Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

Keywords: 45,X/46,XY gonadal dysgenesis,gonadoblastoma,dysgerminoma

Özge Yüce, Esra Döğer, Nurullah Çelik, Hamdi Cihan Emeksiz, Mahmut Orhun Çamurdan, Aysun Bideci, Peyami Cinaz. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. J Clin Res Pediatr Endocrinol. 2015; 7(4): 336-339
Manuscript Language: English
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