Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. In a sense, this configuration is roughly midway between normal male genitalia and normal female genitalia in structure and appearance. It is a relatively common form of genital ambiguity caused by undervirilization of genetic males due to several different intersex conditions.
PPSH usually consists of:
Testes are often palpable in the scrotum or inguinal canals, and the karyotype is XY. In most cases there are no internal female structures such as a uterus or other mullerian duct derivatives.
Although virilizing disorders like congenital adrenal hyperplasia can produce this configuration of the external genitalia in a genetic female, the term pseudovaginal perineoscrotal hypospadias is customarily applied to undervirilized genetic males.
The intersex conditions that can produce PPSH include any in which early testosterone production or response is reduced but not absent. Typical conditions include:
In some cases the cause cannot be determined, and these are referred to as "idiopathic PPSH," but the proportion allocated to this diagnostic category has steadily shrunk over the last 25 years as the ability to confirm the above conditions has improved.
Management
When an infant is born with PSH, the most difficult management decision has often been the sex assignment, since genitalia with this degree of ambiguity do not resemble either sex very well with respect to looks or function. Many infants with PPHS have been assigned and raised as female despite presence of testes and XY chromosomes.
Nearly all infants with PPSH are offered surgical reconstruction, to either further masculinize or feminize the external genitalia.
Treatment with testosterone postnatally does not close the urethra or change the malformation, but in some cases may enlarge the penis slightly.
See also