Case Report

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

10.4274/jcrpe.galenos.2021.2021.0151

  • Malgorzata A. Krawczyk
  • Malgorzata Styczewska
  • Dorota Birkholz-Walerzak
  • Mariola Iliszko
  • Beata S. Lipska-Zietkiewicz
  • Wojciech Kosiak
  • Ninela Irga-Jaworska
  • Ewa Izycka-Swieszewska
  • Ewa Bien

Received Date: 01.06.2021 Accepted Date: 25.08.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 34544220

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in 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.

Keywords: Pure gonadal dysgenesis, solid tumor, gonadoblastoma, dysgerminoma, children, cancer predisposition