H-Y antigen in transsexuality,and how to explain testis differentiation in H-Y antigen-negative males and ovary differentiation in H-Y antigen-positive females |
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Authors: | Wolfgang Engel Friedemann Pfäfflin Claus Wiedeking |
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Affiliation: | (1) Institut für Humangenetik der Universität, Nikolausberger Weg 5 a, D-3400 Göttingen, Federal Republic of Germany;(2) Abteilung für Sexualforschung der Psychiatrischen und Nervenklinik der Universität, Martinistraße 52, D-2000 Hamburg 20, Federal Republic of Germany;(3) Neurologische Klinik der Universität, Robert-Koch-Straße 40, D-3400 Göttingen, Federal Republic of Germany |
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Abstract: | Summary H-Y antigen was determined in eight transsexual patients. Two of the four male-to-female transsexual patients typed as H-Y antigen-negative, while the other two typed as expected from their phenotypic and gonadal sex, namely H-Y antigen-positive. Of the four female-to-male transsexual patients, three typed as H-Y antigen-positive and one was H-Y antigen-negative, as expected. The presence of normal testes in H-Y antigen-negative males is assumed to result from a mutation of nucleotide sequences of the H-Y structural gene for antigenic determinants. Thus, an H-Y is produced with normal receptor-binding activity which can sustain the testis determination of the bipotent gonadal anlage. In the case of H-Y antigen-positive females with normal ovaries a deletion of the autosomally located H-Y structural gene is assumed. This deletion should affect sequences for repressor-binding (as was suggested for H-Y antigen-positive XX-males) and for receptor-binding activity of the H-Y antigen molecule. The resulting H-Y antigen is unable to bind to the gonadal receptor of the bipotent gonadal anlage. Thus an ovary is determined. The relevance of H-Y antigen for the aetiology of transsexualism is discussed. |
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