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Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material

Authors
 Ahreum Kwon  ;  Sei Eun Hyun  ;  Mo Kyung Jung  ;  Hyun Wook Chae  ;  Woo Jung Lee  ;  Tae Hyuk Kim  ;  Duk Hee Kim  ;  Ho-Seong Kim 
Citation
 HORMONES & CANCER, Vol.8(3) : 166-173, 2017 
Journal Title
 HORMONES & CANCER 
ISSN
 1868-8497 
Issue Date
2017
MeSH
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, Y/genetics* ; Cytogenetic Analysis* ; Female ; Gonadoblastoma/diagnosis ; Gonadoblastoma/genetics* ; Gonadoblastoma/pathology ; Humans ; Karyotype Risk Factors ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics* ; Turner Syndrome/pathology
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.
Full Text
https://link.springer.com/article/10.1007%2Fs12672-017-0291-8
DOI
10.1007/s12672-017-0291-8
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160397
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