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Familial XX true hermaphroditism and the H-Y antigen

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Summary

Two 46,XX sibs, one of female, one of male gender, and both with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance. The common origin and the nature of the mutation leading to XX sex reversal are discussed.

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References

  • Bennett, D., Mathieson, B. J., Scheid, M., Yanagisawa, K., Boyse, E. A., Wachtel, S., Cattanach, B. M.: Serological evidence for H-Y antigen in Sxr, XX sex-reversed phenotypic males. Nature 265, 255–257 (1977)

    Google Scholar 

  • Berger, R., Abonyi, D., Nodot, A., Vialatte, J., Lejeune, J.: Hermaphrodisme vrai et “garçon XX” dans une fratrie. Europ. J. Clin. Biol. Res. 15, 330–333 (1970)

    Google Scholar 

  • Cattanach, B. M., Pollard, C. E., Hawkes, S. G.: Sex-reversed mice: XX and XO males. Cytogenetics 10, 318–337 (1971)

    Google Scholar 

  • Chapelle de la, A.: Nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet. 24, 71–105 (1972)

    Google Scholar 

  • Chapelle de la, A., Schröder, J., Murros, J. Tallqvist, G.: Two XX males in one family and additional observations bearing on the etiology of XX males. Clin. Genet. 11, 91–106 (1977)

    Google Scholar 

  • Chapelle de la, A., Koo, G. C., Wachtel, S. S.: Recessive sex determining genes in human XX male syndrome. Cell 15, 837–843 (1978)

    Google Scholar 

  • Dosik, H., Wachtel, S. S., Khan, F., Spergel, G., Koo, G. C.: Y-chromosomal genes in a phenotypic male with a 46 XX karyotype. J. Am. Med. Assoc. 236, 2505–2508 (1976)

    Google Scholar 

  • Federman, D. D.: What's new (since the) pussycat. N. Engl. J. Med. 283, 43–44 (1970)

    Google Scholar 

  • Kasdan, R., Nankin, H. R., Troen, P., Wald, N., Pan, S., Yanaihara, T.: Paternal transmission of maleness in XX human beings. N. Engl. J. Med. 288, 539–545 (1973)

    Google Scholar 

  • Koo, G. C., Wachtel, S. S., Krupen-Brown, K., Mittl, L. R., Breg, W. R., Genel, M., Rosenthal, I. M., Borgaonkar, D. S., Miller, D. A., Tantravahi, R., Schreck, R. R., Erlanger, B. F., Miller, O. J.: Mapping the locus of the H-Y gene on the human Y-chromosome. Science 198, 940–942 (1977)

    Google Scholar 

  • Krone, W., Wolf, U.: Chromosomes and protein variation. In: The biochemical genetics of man, D. J. H. Brock, O. Mayo, eds., 2nd ed., pp. 93–154. London-New York: Academic Press 1978

    Google Scholar 

  • Mittwoch, U.: H-Y antigen and the growth of the dominant gonad. J. Med. Genet. 14, 335–338 (1977)

    Google Scholar 

  • Ohno, S.: The Y-linked H-Y antigen locus and the X-linked Tfm locus as major regulatory genes of the mammalian sex determining mechanism. J. Steroid Biochem. 8, 585–592 (1977)

    Google Scholar 

  • Ohno, S., Christian, L. C., Wachtel, S. S., Koo, G. C.: Hormone-like role of H-Y antigen in bovine freemartin gonad. Nature 261, 597–599 (1976)

    Google Scholar 

  • Ohno, S., Ciccarese, S., Nagai, Y., Wachtel, S. S.: H-Y antigen in testes of XX(BALB) XY (C3H) chimaeric male mouse. Arch. Androl. 1, 103–109 (1978)

    Google Scholar 

  • Scheid, M., Boyse, E. A., Carswell, E. A., Old, L. J.: Serologically demonstrable alloantigens of mouse epidermal cells. J. Exp. Med. 135, 938–955 (1972)

    Google Scholar 

  • Saenger, P., Levine, L. S., Wachtel, S. S., Korth-Schutz, S, Doberne, Y., Koo, G. C., Lavengood, R. W., Jr., German, J. L., New, M. I.: Presence of H-Y antigen and testis in 46,XX true hermaphroditism, evidence for Y-chromosomal function. J. Clin. Endocrinol. Metab. 43, 1234–1239 (1976)

    Google Scholar 

  • Selden, J. R., Wachtel, S. S., Koo, G. C., Haskins, M. E., Patterson, D. F.: Genetic basis of XX male syndrome and XX true hermaphroditism: evidence in the dog. Science 201, 644–646 (1978)

    Google Scholar 

  • Soller, M., Padeh, B., Wysoki, M., Ayalon, N.: Cytogenetics of the Saanen goats showing abnormal development of the reproductive tract associated with the dominant gene for polledness. Cytogenetics 8, 51–67 (1969)

    Google Scholar 

  • Wachtel, S. S.: H-Y antigen and the genetics of sex determination. Science 198, 797–799 (1977)

    Google Scholar 

  • Wachtel, S. S., Koo, G. C., Breg, W. R., Elias, S., Boyse, E. A., Miller, O. J.: Expression of H-Y antigen in human males with two Y chromosomes. N. Engl. J. Med. 293, 1070–1072 (1975)

    Google Scholar 

  • Wachtel, S. S., Koo, G. C., Breg, W. R., Thaler, H. T., Dillard, G. M., Rosenthal, I. M., Dosik, H., Gerald, P. S., Saenger, P., New, M., Lieber, E., Miller, O. J.: Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites. N. Engl. J. Med. 295, 750–754 (1976)

    Google Scholar 

  • Wachtel, S. S., Basrur, P., Koo, G. C.: Recessive male-determining genes. Cell 15, 279–281 (1978)

    Google Scholar 

  • Wolf, U.: XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases. Hum. Genet. (in press)

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Fraccaro, M., Tiepolo, L., Zuffardi, O. et al. Familial XX true hermaphroditism and the H-Y antigen. Hum Genet 48, 45–52 (1979). https://doi.org/10.1007/BF00273273

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  • DOI: https://doi.org/10.1007/BF00273273

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