Lack of mutational alteration in the conserved regions of ZFY and SRY genes of 46,XY females with gonadal dysgenesis.

To further our understanding of the mechanism of action of regulatory and structural genes involved in human sex determination, we have examined three sex-reversed 46,XY females and two of their normal fathers for any mutational alteration in ZFY and SRY genes, using polymerase chain reaction and single-strand conformation polymorphism and by subsequent DNA sequencing. We could not find any mutation in the ZFY and SRY genes of these patients and their fathers. The results seem to suggest that although ZFY and SRY may be required for initiation of testis differentiation and male sex determination, sex-reversed females may predominantly result from alterations in genes either downstream or secondary to ZFY or SRY.