H-Y antigen in 46,XY pure testicular dysgenesis

Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminom...

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Veröffentlicht in:	American journal of medical genetics 1979, Vol.3 (2), p.149-154
Hauptverfasser:	Nazareth, H. R. S., Moreira-Filho, C. A., Cunha, A. J. B., Vieira-Filho, J. P. B., Lengyel, A. M. J., Lima, M. C., Optiz, John M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Consanguinity Cytotoxicity Tests, Immunologic Dexamethasone dysgerminoma Dysgerminoma - genetics gonadoblastoma H-Y antigen H-Y Antigen - genetics Humans Male Pedigree Phenotype pure testicular dysgenesis Turner Syndrome - diagnosis Turner Syndrome - genetics Turner Syndrome - immunology
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Zusammenfassung:	Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320030206