Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy

Abstract

5-alpha-reductase (5-ARD) type 2 deficiency is an autosomal sex-linked disorder, resulting in the inability to convert testosterone to the more physiological active dihydrotestosterone (DHT). DHT is the most potent androgen, bound selec- tively to the androgen receptors in genital skin and fibroblasts, making its action necessary for the de- velopment of normal male genital anatomy. Since DHT is required for normal masculinizaton of the external genitalia in utero, genetic males with 5- ARD are usually born with ambiguous genitalia (male pseudohermaphroditism). The hallmark of 5-ARD is elevated ratio of serum testosterone to DHT. In healthy prepubertal children, the baseline testosterone-to-DHT ratio is 1:2. This paper reports a 20-month old patient with male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency.

Keywords

• Male pseudohermaphroditism
• 5-alpha reductase type-2 deficiency
• 20-month old boy