46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?
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.
D000293:Adolescent; D000328:Adult; D001940:Breast / Q000254:growth & development*; D002471:Cell Transformation, Neoplastic; D002648:Child; D013196:Dihydrotestosterone / Q000032:analysis; D004407:Dysgerminoma / Q000209:etiology / Q000235:genetics*; D004958:Estradiol / Q000032:analysis; D004970:Estrone / Q000032:analysis; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000378:metabolism; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000032:analysis; D010051:Ovarian Neoplasms / Q000209:etiology / Q000235:genetics*; D010641:Phenotype; D011388:Prolactin / Q000032:analysis; D013739:Testosterone / Q000032:analysis
D006182:H-Y Antigen; D013196:Dihydrotestosterone; D004970:Estrone; D013739:Testosterone; D004958:Estradiol; D011388:Prolactin; D006854:Hydrocortisone