title: Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.
abstract: Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.
authors.forename: Ahreum
authors.initials: A
authors.lastname: Kwon
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.
authors.forename: Sei Eun
authors.initials: SE
authors.lastname: Hyun
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.
authors.forename: Mo Kyung
authors.initials: MK
authors.lastname: Jung
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.
authors.forename: Hyun Wook
authors.initials: HW
authors.lastname: Chae
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.
authors.forename: Woo Jung
authors.initials: WJ
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.
authors.forename: Tae Hyuk
authors.initials: TH
authors.lastname: Kim
authors.affiliation: Sowha Children's Hospital, Seoul, 140-829, South Korea.
authors.forename: Duk Hee
authors.initials: DH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea. kimho@yuhs.ac.
authors.forename: Ho-Seong
authors.initials: HS
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D018238:Gonadoblastoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D059785:Karyotype; D012307:Risk Factors; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology