H-Y antigen in 46,XY gonadal dysgenesis |
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| Authors: | Stephen S. Wachtel Gloria C. Koo Albert de la Chapelle Hanna Kallio Joseph M. Heyman Orlando J. Miller |
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| Affiliation: | (1) Memorial Sloan-Kettering Cancer Center, 10021 New York, NY, USA;(2) Department of Pediatrics, New York Hospital-Cornell Medical Center, 10021 New York, NY, USA;(3) Department of Medical Genetics, University of Helsinki, 00290 Helsinki 29, Finland;(4) Gynecology and Obstetrics, University of Helsinki, 00290 Helsinki 29, Finland;(5) Department of Obstetrics, Anna Jaques Hospital, 01950 Newburyport, MA, USA;(6) Gynecology, Anna Jaques Hospital, 01950 Newburyport, MA, USA;(7) Department of Human Genetics and Development, Columbia University College of Physicians and Surgeons, 10032 New York, NY, USA;(8) Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, 10032 New York, NY, USA |
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| Abstract: | Summary 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. |
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