Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature
Maamoun Adra1, Hayato Nakanishi2, Eleni Papachristodoulou3, Evangelia Karaoli3, Petroula Gerasimou4, Antri Miltiadous4, Katerina Nicolaou4, Loizos Loizou3, Nicos Skordis51St George's University of London Medical School, London, UK 2School of Medicine, University of Nicosia, Nicosia, Cyprus 3Department of Paediatric Oncology, Makarios Hospital, Nicosia, Cyprus 4Molecular Hematology-oncology, Karaiskakio Foundation, Nicosia, Cyprus 5Division of Pediatric Endocrinology, Paedi Center for specialized Paediatrics, Nicosia, Cyprus
Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY Disorders of Sexual Development (DSD) is characterized by complete gonadal dysgenesis and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth. 46, XY gonadal dysgenesis involves a high risk of gonadoblastoma development with malignant potential such that the onset is greatest at or after the event of puberty. This report of a 12-year-old phenotypic female with 46, XY gonadal dysgenesis, who developed an advanced metastatic seminoma, aims to emphasize the rarity of the development of a seminoma in the context of 46, XY CGD.