46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?
Publication/Presentation Date
1-1-1985
Abstract
Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,XY gonadal dysgenesis and 12 related cases involving chromosomal and/or skeletal abnormalities. Our survey, including three new cases presented here, indicates that H-Y phenotype but not breast development may be related to the development of the gonadoblastoma-dysgerminoma. Thus among women with 46,XY gonadal dysgenesis, there are H-Y- and H-Y+ classes, but gonadal tumors are found almost exclusively in the H-Y+ class. Yet one of our patients may represent an exception to the association of H-Y+ phenotype and gonadal tumors in this syndrome.
Volume
69
Issue
1
First Page
79
Last Page
85
ISSN
0340-6717
Published In/Presented At
Warner, B. A., Monsaert, R. P., Stumpf, P. G., Kulin, H. E., & Wachtel, S. S. (1985). 46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?. Human genetics, 69(1), 79–85. https://doi.org/10.1007/BF00295534
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
3967892
Department(s)
Department of Pediatrics
Document Type
Article