Genetically determined sex-reversal in 46,XY humans

James German, Joe Leigh Simpson, R. S.K. Chaganti, Robert L. Summitt, Lloyene Bruce Reid, Irwin R. Merkatz

Research output: Contribution to journalArticle

77 Scopus citations


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" similar to those of 45,X women.

Original languageEnglish (US)
Pages (from-to)53-56
Number of pages4
Issue number4363
StatePublished - Jan 1 1978
Externally publishedYes

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    German, J., Simpson, J. L., Chaganti, R. S. K., Summitt, R. L., Reid, L. B., & Merkatz, I. R. (1978). Genetically determined sex-reversal in 46,XY humans. Science, 202(4363), 53-56.