J Clin Res Pediatr Endocrinol. 2022; 14(2): 251-257 | DOI: 10.4274/jcrpe.galenos.2021.2021.0151

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

Malgorzata A. Krawczyk¹, Malgorzata Styczewska², Dorota Birkholz-Walerzak³, Mariola Iliszko⁴, Beata S. Lipska-Zietkiewicz⁴, Wojciech Kosiak⁵, Ninela Irga-Jaworska¹, Ewa Izycka-Swieszewska⁶, Ewa Bien^1
1Medical University of Gdansk, Department of Pediatrics, Hematology and Oncology, Gdansk, Poland
²Medical University of Gdańsk, The English Division Pediatric Oncology Scientific Circle, Gdańsk, Poland
³Medical University of Gdańsk, Department of Pediatrics, Division of Diabetology and Endocrinology, Gdańsk, Poland
⁴Medical University of Gdańsk, Department of Biology and Medical Genetics, Gdańsk, Poland
⁵University Clinical Center in Gdańsk, Gdańsk, Poland
⁶Medical University of Gdańsk, Department of Pathology and Neuropathology, Gdańsk, Poland

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.

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

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