Open AccessBilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism
Author(s) -
Małgorzata Krawczyk,
Małgorzata Styczewska,
Dorota Birkholz-Walerzak,
Mariola Iliszko,
Beata S. LipskaZiętkiewicz,
Wojciech Kosiak,
Ninela IrgaJaworska,
Ewa IżyckaŚwieszewska,
Ewa Bień
Publication year - 2022
Publication title -
jcrpe
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.566
H-Index - 35
eISSN - 1308-5735
pISSN - 1308-5727
DOI - 10.4274/jcrpe.galenos.2021.2021.0151
Subject(s) - hypergonadotropic hypogonadism , medicine , nijmegen breakage syndrome , gonadoblastoma , dysgerminoma , isochromosome , cancer research , gynecology , karyotype , genetics , ovary , chromosome , biology , hormone , gene , dna damage , dna , ataxia telangiectasia
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.