Recently, a number of genes have been identified that are associated w
ith a failure of human sex determination, including WT1, DAX-1, SOX9,
ATRX, and the Y-linked testis determination gene, SRY. Most cases of h
uman sex reversal, XY females and XX males, do not, however, appear to
be caused by mutations in these genes. This review highlights recent
advances in this field and discusses the prospects of identifying gene
s in the sex-determining pathway. (C) 1997, Elsevier Science Inc.