Androgen Insensitivity Syndrome

Summary

Sex determination in mammals is dependent on sex chromosome composition, with XX animals being female and XY animals being male. In the absence of the Y-chromosome male determining gene SRY, no androgen is produced in the developing gonad, and the embryo develops as a female. In the presence of the Y-chromosome male determining gene SRY, the developing gonad produces androgen, and the embryo develops as a male. Male development requires a functional androgen receptor on the surface of embryonic cells. Mutations that affect the function of the Androgen Receptor (AR) impair the ability of embryonic cells to initiate male development, transforming chromosomal males (XY) into sterile phenotypic females.

Sterile phenotypic females are obviously unsuitable for breeding, but are otherwise healthy.

Date of Last Update: 04/02/2016


Results

Understanding the Results

Results of the genetic test for Androgen Insensitivity Syndrome are presented as shown below.