title: Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism.
abstract: OBJECTIVE
  To estimate the overall frequency of gonadal tumors in patients with 45,X/46,XY mosaicism who underwent gonadectomy and to determine whether the degree of external masculinization or the location of gonads were associated with the presence of gonadal tumor.
  
  
  METHODS
  Retrospective study of patients with karyotype of 45,X/46,XY or variant who received care at the study institution between 1995 and 2012.
  
  
  METHODS
  University of Michigan Health System (Ann Arbor, Michigan), a tertiary care academic center.
  
  
  METHODS
  Sixteen patients with karyotype of 45,X/46,XY who underwent gonadectomy.
  
  
  METHODS
  None.
  
  
  METHODS
  Presence of pathology-confirmed gonadal tumor.
  
  
  RESULTS
  In patients who underwent bilateral gonadectomy, gonadoblastomas were detected in 36.4% (4 of 11), and all were identified in patients with normal female external genitalia (4 of 8 [50.0%]). Abdominal gonads were associated with a nonsignificant increase in rate of gonadal tumor compared with inguinal or scrotal gonads. No malignant tumors were identified.
  
  
  CONCLUSIONS
  The overall rate of gonadoblastoma was higher than previously reported. The high rate of gonadoblastoma in patients with female external genitalia and the lack of gonadal function support continuing the standard of care of practice of prophylactic gonadectomy in this patient population.
authors.affiliation: Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan. Electronic address: mdendri2@hfhs.org.
authors.forename: Melina L
authors.initials: ML
authors.lastname: Dendrinos
authors.affiliation: Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan.
authors.forename: Noam
authors.initials: N
authors.lastname: Smorgick
authors.affiliation: Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan.
authors.forename: Courtney A
authors.initials: CA
authors.lastname: Marsh
authors.affiliation: Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan.
authors.forename: Yolanda R
authors.initials: YR
authors.lastname: Smith
authors.affiliation: Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan.
authors.forename: Elisabeth H
authors.initials: EH
authors.lastname: Quint
mesh_terms: D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000601:surgery; D018238:Gonadoblastoma / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D008297:Male; D009030:Mosaicism; D010051:Ovarian Neoplasms / Q000235:genetics*; D012189:Retrospective Studies; D013736:Testicular Neoplasms / Q000235:genetics*; D014770:Virilism / Q000235:genetics
keywords: 45,X/46,XY mosaicism; Disorders of sex development; Gonadoblastoma