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.

Abstract

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.

• Authors: W Engel, F Pfäfflin, C Wiedeking
• Journal: Human genetics (Hum Genet) Vol. 55 Issue 3 Pg. 315-9 ( 1980) ISSN: 0340-6717 [Print] Germany
• PMID: 7203464 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• H-Y Antigen
• H-Y antigen receptor
• Receptors, Antigen

Topics

• Chromosome Deletion
• Female
• H-Y Antigen (genetics, immunology)
• Humans
• Male
• Models, Genetic
• Morphogenesis
• Ovary (embryology)
• Receptors, Antigen (genetics, metabolism)
• Sex Chromosome Aberrations (immunology)
• Sex Determination Analysis
• Testis (embryology)
• Transsexualism (genetics, immunology)
• X Chromosome