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

• Main Authors: Malgorzata A. Krawczyk (Author), Malgorzata Styczewska (Author), Dorota Birkholz-Walerzak (Author), Mariola Iliszko (Author), Beata S. Lipska-Zietkiewicz (Author), Wojciech Kosiak (Author), Ninela Irga-Jaworska (Author), Ewa Izycka-Swieszewska (Author), Ewa Bien (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...