title: H-Y antigen in 46,XY gonadal dysgenesis.
abstract: Presence of H-Y antigen has been correlated with testicular differentiation, and absence of H-Y with failure of testicular differentiation, in a variety of mammalian species. To determine more precisely the relationship between expression of H-Y antigen and development of the testis, we studied the cells of phenotypic females with the 46,XY male karyotype. Blood leukocytes were typed H-Y+ in five XY females with gonadal dysgenesis, although in other studies blood leukocytes from XY females with gonadal dysgenesis were typed H-Y-. Thus mere presence of H-Y antigen is not sufficient to guarantee normal differentiation of the testis. In the present paper we review evidence for an additional factor in gonadal organogenesis, the H-Y antigen receptor. We infer that testicular development requires engagement of H-Y and its receptor. It follows that XY gonadal dysgenesis is the consequence of functional absence of the H-Y testis inducer as in the following conditions: failure of synthesis of H-Y or failure of specific binding of H-Y.
mesh_terms: D000293:Adolescent; D000328:Adult; D000937:Antigen-Antibody Reactions; D002648:Child; D003601:Cytotoxicity Tests, Immunologic; D005260:Female; D006182:H-Y Antigen / Q000302:isolation & purification*; D006801:Humans; D007962:Leukocytes / Q000276:immunology; D009634:Noonan Syndrome / Q000235:genetics / Q000276:immunology*; D010641:Phenotype; D011946:Receptors, Antigen / Q000302:isolation & purification*; D012732:Sex Determination Analysis
chemical_list: D006182:H-Y Antigen; D011946:Receptors, Antigen