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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2022 / Cilt: 14 - Sayı: 2

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism

Malgorzata A. KRAWCZYK
Malgorzata STYCZEWSKA
Dorota BİRKHOLZ-WALERZAK
Mariola ILISZKO
Beata S. LİPSKA-ZIETKIEWİCZ
Wojciech KOSİAK
Ninela IRGA-JAWORSKA
Ewa IZYCKA-SWIESZEWSKA
Ewa BIEN
Pages
251–257
DOI
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AI Summary & Key Takeaways

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

Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin.
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Key Findings & Data:It is caused by a defect in the NBN gene, resulting in defective nibrin protein formation.
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Conclusion & Impact:Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the NBN gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Nibrin is also involved in gonadal development and its disfunction in females with NBS frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism. However, only a few ovarian tumors in NBS patients have been reported to date. We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.

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Cite This Article

KRAWCZYK, M. A., STYCZEWSKA, M., BİRKHOLZ-WALERZAK, D., ILISZKO, M., LİPSKA-ZIETKIEWİCZ, B. S., KOSİAK, W., IRGA-JAWORSKA, N., IZYCKA-SWIESZEWSKA, E., BIEN, E. (2022). Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 14 - Sayı: 2, 251–257. https://ajindex.com/articles/415553

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