Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp- phenotypic female

R. G. Rosenfeld, L. Luzzatti, R. L. Hintz, O. J. Miller, G. C. Koo, S. S. Wachtel

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Abstract

A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants of the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y antigen (ostensibly the product of Y-chromosomal testis-determining genes) indicated absence of the H-Y+ phenotype normally associated with the intact Y chromosome. We conclude that genes exist on the short arm of the human Y chromosome which both suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. Our data are consistent with the view that H-Y genes comprise a family of testis-determinants, and that loss of a critical moiety is inconsistent with normal development of the male gonad.

Original languageEnglish (US)
Pages (from-to)458-468
Number of pages11
JournalAmerican Journal of Human Genetics
Volume31
Issue number4
StatePublished - Dec 1 1979

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Rosenfeld, R. G., Luzzatti, L., Hintz, R. L., Miller, O. J., Koo, G. C., & Wachtel, S. S. (1979). Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp- phenotypic female. American Journal of Human Genetics, 31(4), 458-468.