5α-Reductase deficiency syndrome: the impact of androgens on gender identity and gender role

Abstract 46,XY individuals with 5α-reductase-2 deficiency syndrome have ambiguous genitalia with a clitoral-like phallus, severely bifid scrotum, and pseudovaginal perineoscrotal hypospadias. As a result of this genital ambiguity, many are thought to be girls at birth and are treated as such from the time they are born. However, at puberty virilization occurs, whereupon affected individuals, with few exceptions, reveal their male gender identity and assume a male gender role. Much of the research on gender identity of individuals with 5α-reductase-2 deficiency was derived from a study of 38 males in three rural villages in the Dominican Republic. This chapter describes the clinical, biochemical, and genetic features of the syndrome; considers the impact of androgens on gender identity and gender role; and outlines treatment considerations.