In mammals, sex is determined by the presence or absence of the Y chromosome. The first event in sexual differentiation is the differentiation of the bipotential gonad into testes or ovaries. All subsequent sexual differentiation is under hormonal control of the testes or ovaries. The genetic entity on the Y chromosome required for testis development has long been known as the testis-determining factor (TDF).
For the scientist, the joy of sex determination stems from the supposition that mutations in sex determination are not early embryonic lethals but sex reversing. Sex-reversed patients facilitate the mapping and identification of the genes involved in sex determination. The cloning of the genes will allow us to extend our understanding of the biochemistry and cell biology of sex determination.
Approximately 80% of XX males are sex reversed due to X-Y translocations in which TDF is transferred to the X chromosome. As for the remaining
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