Testicular Feminization

Is a developmental anomaly, which occurs in humans and other mammals. The chromosomally XY individuals display female phenotype including the formation of a blind vagina (no uterus), female breasts, and generally the absence of pubic hairs (see Fig. T32). Usually, the individuals affected by this recessive disorder (human chromosome Xq11.1-q12) appear very feminine but sterile. Generally, they develop abdominal or somewhat herniated small testes. About 1.5 ×10^–5of the chromosomally males have this disorder. The condition is the result of a complete or partial deficiency or instability of the androsterone receptor protein (917 amino acids). The function of this androgen receptor protein may be either totally missing or only partial (Reifenstein syndrome). This receptor appears to be highly conserved among mammals. The gene extends to about 90 kb DNA. The protein binds to DNA by two domains encoded by exons 2 and 3, five exons code for androgen binding, while exon 1 has a regulatory...