title: Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads.
abstract: We report two female patients with gonadal dysgenesis and sex chromosome mosaicism involving the Y chromosome. Conventional karyotyping was supplemented with fluorescent in situ hybridisation techniques in order to confirm the presence of Y chromosomes. One patient is a phenotypic female with karyotype 45,X/46,X,idic(Y)(q11.2). She underwent a laparoscopic gonadectomy at which streak ovaries without evidence of gonadoblastoma were removed. The second patient presented as a virilised female with karyotype 45,X/47,XYY. At laparoscopy, she was found to have mixed gonadal dysgenesis with a gonadoblastoma in situ. We recommend early gonadectomy in female children presenting with gonadal dysgenesis and the presence of a Y chromosome although once the gonadoblastoma locus on Y chromosome gene has been cloned it may be possible to identify those patients who have a low risk of developing gonadoblastoma.
authors.affiliation: Cytogenetics Laboratory, Mount Elizabeth Hospital, Singapore.
authors.forename: B
authors.initials: B
authors.lastname: Gibbons
authors.forename: S Y
authors.initials: SY
authors.lastname: Tan
authors.forename: C C
authors.initials: CC
authors.lastname: Yu
authors.forename: E
authors.initials: E
authors.lastname: Cheah
authors.forename: H L
authors.initials: HL
authors.lastname: Tan
mesh_terms: D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006059:Gonadal Dysgenesis / Q000235:genetics*; D018238:Gonadoblastoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism / Q000235:genetics; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010052:Ovariectomy; D018570:Risk Assessment; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D016896:Treatment Outcome; D014998:Y Chromosome