ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : Issue : Year : 2023

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-73644 | DOI: 10.4274/jcrpe.galenos.2023.2023-12-11

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 Skordis5
1St 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.

Keywords: Seminoma, Sywer syndrome, Gonadal dysgenesis, 46 XY

Corresponding Author: Nicos Skordis, Cyprus
Manuscript Language: English
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