Pseudovaginal perineoscrotal hypospadias is a rare autosomal recessive disorder of male sexual development. Patients of this disease have a normal 46,XY karyotype, but have incompletely differentiated male genitalia, leading to varying degrees of genital ambiguity; ranging from minimal undervirilization and presentation of normal male anatomy with micropenis or hypospodias, to severe undervirilization and presentation of normal female external genitalia with mild clitoral enlargement. The testes in neonates are usually found either in the inguinal canals bilaterally, or in the labioscrotal folds. Mullerian duct derived structures are not present. By puberty, signs of virilization can be seen, with a prominent Adam's apple, muscularity, body and facial hair being developed, and a deepening of the voice.
The exact frequency of this disorder worldwide is not known. However, some countries like the Dominican Republic, New Guinea, and Turkey have reported higher frequencies. Treatment depends on the gender assignment of the patient. Diagnosis of the disease is usually confirmed by the high testosterone/dihydrotestosterone ratio. Male gender assignment may be supported by dihydrotestosterone administration, although it may be ineffective once puberty has been reached. Female gender identity selection involves orchidectomy prior to puberty and clitoroplasty with estrogen therapy at puberty. Psychosocial support for the patient and the family is very important.