A Case of Pseudovaginal Perineoscrotal Hypospadias with 5alpha-reductase Deficiency / 대한비뇨기과학회지

ABSTRACT

Male pseudohermaphroditism can be caused by absent m llerian regression, inadequate synthesis of testosterone, inadequate synthesis of dihydrotestosterone, or androgen receptor deficiency. Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male pseudohermaphroditism. This is mostly caused by a deficiency of 5alpha-reductase, which controls the conversion of testosterone to 5alpha-dihydrotestosterone. We report a case of male pseudohermaphroditism due to 5alpha-reductase deficiency who was born with ambiguous genitalia and was reared as female.