Syndromes of Androgen Resistance1

Androgen resistance can be divided into two broad categories: deficiency in 5α-reductase and defects in the androgen receptor. Studies of these two disorders have provided insight into both the normal pathway of androgen action and into the pathogenesis of abnormal sexual development. 5α-Reductase deficiency is a rare autosomal recessive disorder involving the 5α-reductase 2 enzyme; affected males inhibit a defect in virilization most evident as impairment of the virilization of the external genitalia and urogenital sinus