Genetically determined sex-reversal in 46,XY humans

Science. 1978 Oct 6;202(4363):53-6. doi: 10.1126/science.567843.

Abstract

Evidence is presented for the existence of a gene, probably on the X chromosome, which prevents testis differentiation when present in 46,XY human embryos. Affected 46,XY women are not completely normal because of premature ovarian involution, as a result of which they have "streak gonads" similiar to those of 45,X women.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Disorders of Sex Development / embryology
  • Disorders of Sex Development / genetics*
  • Female
  • Humans
  • Karyotyping
  • Male
  • Ovary / embryology
  • Pedigree
  • Sex Chromosome Aberrations / embryology
  • Testis / embryology
  • Turner Syndrome / embryology
  • Turner Syndrome / genetics*