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

• Prif Awduron: Malgorzata A. Krawczyk (Awdur), Malgorzata Styczewska (Awdur), Dorota Birkholz-Walerzak (Awdur), Mariola Iliszko (Awdur), Beata S. Lipska-Zietkiewicz (Awdur), Wojciech Kosiak (Awdur), Ninela Irga-Jaworska (Awdur), Ewa Izycka-Swieszewska (Awdur), Ewa Bien (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

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 malignancie...