title: Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management.
abstract: OBJECTIVE
  To investigate the risk of gonadal germ cell neoplasms (GCN) in children with 45,X/46,XY gonadal dysgenesis and its relation to the clinical presentations.
  
  
  METHODS
  We conducted a retrospective study reviewing the clinical and gonadal features of all consecutive children with 45,X/46,XY gonadal dysgenesis who received gonadal management in a tertiary center from 1985 to 2015. Study subjects were divided into Group I(significant genitalia anomaly), Group II(female phenotype) and Group III(male phenotype).
  
  
  RESULTS
  21 children were studied (Group I=8; Group II=11; Group III=2). All 19 children of Group I and II eventually underwent bilateral gonadectomy. One patient of Group III underwent gonadal biopsy which showed increase in fibrous tissue in the testes without any GCN. 3/8(37.5%) and 6/11(54.5%) of patients in Group I and II respectively had either gonadoblastoma (GB) or carcinoma-in-situ (CIS) or both affecting one or both gonads. Among Group I patients, the 4 dysgenetic testes affected by CIS in 3 patients were intraabdominal (n=1), inguinal (n=1) and scrotal (n=2) in positions. Among Group II patients, 6/20 streak gonads had GB and 2/2 dysgenetic testes had GB or CIS.
  
  
  CONCLUSIONS
  45,X/46,XY children with significant genitalia anomaly or female phenotype are both at high risk of gonadal GCN.
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China. Electronic address: pyhtam@surgery.cuhk.edu.hk.
authors.forename: Yuk Him
authors.initials: YH
authors.lastname: Tam
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Yuen Shan
authors.initials: YS
authors.lastname: Wong
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Kristine Kit Yi
authors.initials: KK
authors.lastname: Pang
authors.affiliation: Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Ka Fai
authors.initials: KF
authors.lastname: To
authors.affiliation: Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Alice Ka Wah
authors.initials: AK
authors.lastname: Yiu
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Hei Yi
authors.initials: HY
authors.lastname: Wong
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Siu Yan
authors.initials: SY
authors.lastname: Tsui
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Jennifer Wai Cheung
authors.initials: JW
authors.lastname: Mou
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Kin Wai
authors.initials: KW
authors.lastname: Chan
authors.affiliation: Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Kim Hung
authors.initials: KH
authors.lastname: Lee
mesh_terms: D002278:Carcinoma in Situ / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D018238:Gonadoblastoma / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D012189:Retrospective Studies; D012307:Risk Factors; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D014424:Turner Syndrome / Q000150:complications* / Q000175:diagnosis / Q000601:surgery
keywords: 45,X/46,XY mosaicism; Germ cell neoplasm; Gonadal dysgenesis; Gonadoblastoma