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Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads
Author(s) -
Gibbons B,
Tan SY,
Yu CCW,
Cheah E,
Tan HL
Publication year - 1999
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.1999.00319.x
Subject(s) - gonadoblastoma , y chromosome , karyotype , gonadal dysgenesis , dysgerminoma , medicine , turner syndrome , fluorescence in situ hybridization , x chromosome , gynecology , chromosome , genetics , biology , ovary , gene
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.