Abstract
5-alpha-reductase (5-ARD) type 2 deficiencyis an autosomal sex-linked disorder, resulting inthe inability to convert testosterone to the morephysiological active dihydrotestosterone (DHT).DHT is the most potent androgen, bound selec-tively to the androgen receptors in genital skin andfibroblasts, making its action necessary for the de-velopment of normal male genital anatomy. SinceDHT is required for normal masculinizaton of theexternal genitalia in utero, genetic males with 5-ARD are usually born with ambiguous genitalia(male pseudohermaphroditism). The hallmarkof 5-ARD is elevated ratio of serum testosteroneto DHT. In healthy prepubertal children, thebaseline testosterone-to-DHT ratio is 1:2. Thispaper reports a 20-month old patient with malepseudohermaphroditism due to 5-alpha reductasetype-2 deficiency.
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