title: Ullrich-Turner Syndrome and Tumor Risk: Is There Another Chance to Early Gonadectomy in Positive TSPY and SRY Patients?
abstract: The presence of the Y chromosome in the karyotype of patients with disorders of sex differentiation is significantly associated with an increased risk to develop specific types of malignancies, predominantly type II germ cell tumors (GCTs). Gonadoblastoma in the gonads without an obvious testicular differentiation and intratubular germ cell neoplasia of unclassified type in testicular tissue are the precursor lesions of most GCTs. Gonadal dysgenesis, the characteristic feature of Ullrich-Turner syndrome (UTS), further contributes to increase this tumor risk. The reported incidence of Y chromosome material in UTS is 6 to 8% and in these cases an early gonadectomy is strongly recommended to prevent the risk of a malignancy. The aim of this work was to retrospectively analyze the clinical outcome and the histopathological and cytogenetic findings of our UTS patients who underwent gonadectomy to establish strict selection criteria aimed at promoting an organ-sparing surgery.
authors.affiliation: Department of Surgery, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Silveri
authors.affiliation: Department of Pediatrics-Endocrinology, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Armando
authors.initials: A
authors.lastname: Grossi
authors.affiliation: Department of Surgery, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Bassani
authors.affiliation: Department of Imaging and Radiodiagnostics, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Orazi
authors.affiliation: Department of Pathology, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Francesca Diomedi
authors.initials: FD
authors.lastname: Camassei
authors.affiliation: Department of Urology and Nephrology, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Zaccara
mesh_terms: D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D041322:Chromosomes, Human, Y / Q000235:genetics* / Q000648:ultrastructure; D004407:Dysgerminoma / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease; D018238:Gonadoblastoma / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006066:Gonads / Q000473:pathology / Q000601:surgery*; D006801:Humans; D007621:Karyotyping; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D065286:Prophylactic Surgical Procedures; D012189:Retrospective Studies; D012307:Risk Factors; D055748:SOXB1 Transcription Factors / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology
chemical_list: D018797:Cell Cycle Proteins; C490906:SOX1 protein, human; D055748:SOXB1 Transcription Factors; C497749:TSPY1 protein, human