H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis.
The H-Y antigen is a plasma membrane antigen involved in the organogenesis of the mammalian testis. Its expression on human cells is determined by a Y-linked gene. Phenotypic females affected by 46,XY gonadal dysgenesis (Swyer's syndrome) can be either H-Y-positive or H-Y-negative. In this paper we report H-Y antigen and endocrine studies in a sibship with three affected sisters. Immunological studies were performed on two of the patients, and a clearly positive expression was detected in both cases. Endocrine studies consisted in the investigation of the hypothalamic-pituitary-gonadal axis, which revealed that gonadal hormone insufficiency is the only endocrine abnormality associated with the syndrome. A new genetic interpretation and calssification of XY gonadal dysgenesis is proposed.
D000293:Adolescent; D000328:Adult; D003601:Cytotoxicity Tests, Immunologic; D005260:Female; D005817:Genetic Counseling; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000145:classification / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D012306:Risk
D006182:H-Y Antigen