title: Genetically determined sex-reversal in 46,XY humans.
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.
mesh_terms: D012734:Disorders of Sex Development / Q000196:embryology / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010053:Ovary / Q000196:embryology; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000196:embryology; D013737:Testis / Q000196:embryology; D014424:Turner Syndrome / Q000196:embryology / Q000235:genetics*