SRY LPU026

The SRY (sex-determining region Y) located in band Yp11.2 is the genetic master switch of gonadal differentiation. In mammals, it triggers the development of undifferentiated gonads into testes. Human zygotes with mutations in SRY develop into XY females, while XX zygotes with presence of SRY result in male phenotype with occasional ambiguous genitalia. Translocations of the X and Y are rarely reported but often lead to sex reversal.