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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2015 / Cilt: 7 - Sayı: 4

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

Özge YÜCE
ESRA DÖĞER
NURULLAH ÇELİK
HAMDİ CİHAN EMEKSİZ
MAHMUT ORHUN ÇAMURDAN
AYSUN BİDECİ
PEYAMİ CİNAZ
Pages
336–339
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

📌 3 Key Takeaways

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Objective & Hypothesis:Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development.
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Key Findings & Data:We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome.
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Conclusion & Impact:Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

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Cite This Article

YÜCE, Ö., DÖĞER, E., ÇELİK, N., EMEKSİZ, H. C., ÇAMURDAN, M. O., BİDECİ, A., CİNAZ, P. (2015). Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 7 - Sayı: 4, 336–339. https://ajindex.com/articles/219780

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References (6)

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