Objective:
To describe the causes and manifestations of errors in differentiation and development of the gonads.

-Where is the testis-determining factor gene located?
-What is the consequence of translocation of SRY?

 

SRY normally is located in the pseudoautosomal region of the short arm of the Y chromosome. This gene is present in all males including XX males, without exception. Similarly XY females with ovaries lacked SRY. Abnormal recombination outside of the pseudoautosomal region during meiosis can transfer SRY from the Y chromosome to the X chromosome.

Consequently, the gonads differentiate into testes.