Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads

B. Gibbons, S. Y. Tan, C. C W Yu, E. Cheah, H. L. Tan

Research output: Contribution to journalArticle

36 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)210-213
Number of pages4
JournalJournal of Paediatrics and Child Health
Volume35
Issue number2
DOIs
Publication statusPublished - 1999
Externally publishedYes

Fingerprint

Gonadoblastoma
Y Chromosome
Gonads
Chromosome Aberrations
Gonadal Dysgenesis
Karyotype
Mixed Gonadal Dysgenesis
Y-Linked Genes
Karyotyping
Sex Chromosomes
Mosaicism
Fluorescence In Situ Hybridization
Laparoscopy
Ovary

Keywords

  • Gonadal dysgenesis
  • Gonadoblastoma
  • Laparoscopy
  • Y chromosome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads. / Gibbons, B.; Tan, S. Y.; Yu, C. C W; Cheah, E.; Tan, H. L.

In: Journal of Paediatrics and Child Health, Vol. 35, No. 2, 1999, p. 210-213.

Research output: Contribution to journalArticle

Gibbons, B. ; Tan, S. Y. ; Yu, C. C W ; Cheah, E. ; Tan, H. L. / Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads. In: Journal of Paediatrics and Child Health. 1999 ; Vol. 35, No. 2. pp. 210-213.
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