Dysgerminoma and gonadal dysgenesis in a 46,XX female with no evidence of Y chromosomal DNA.
The occurrence of dysgerminoma in dysgenetic gonads without Y chromosomal influence is exceptionally rare. We used Southern blot hybridization of Y-DNA probes to genomic DNA to search for any Y-related influence in a patient with a dysgerminoma, dysgenetic gonads, and a 46,XX karyotype. No Y-specific DNA was found at 11 loci representing the short arm, centromere, and long arm. This absence of any Y-DNA leaves open to question the absolute requirement of Y-related influence in the development of dysgerminoma in dysgenetic gonads.
Letterie
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Department of Obstetrics and Gynecology, Virginia Mason Medical Center, Seattle, Washington 98110, USA.
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D000328:Adult; D015342:DNA Probes; D004273:DNA, Neoplasm / Q000032:analysis* / Q000235:genetics; D004407:Dysgerminoma / Q000150:complications* / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010051:Ovarian Neoplasms / Q000150:complications* / Q000235:genetics*; D014998:Y Chromosome / Q000737:chemistry*
D015342:DNA Probes; D004273:DNA, Neoplasm