Summary
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 classification of XY gonadal dysgenesis is proposed.
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Moreira-Filho, C.A., Toledo, S.P.A., Bagnolli, V.R. et al. H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. Hum Genet 53, 51–56 (1979). https://doi.org/10.1007/BF00289451
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DOI: https://doi.org/10.1007/BF00289451