Pseudovaginal perineoscrotal hypospadias

Pseudovaginal perineoscrotal hypospadias
Classification and external resources
OMIM	264600
DiseasesDB	11
eMedicine	ped/1980

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.

Presentation

PPSH usually consists of:

• a phallus midway in size between penis and clitoris,
• a chordee tethering it to the perineum,
• a urethral opening usually on the perineum (the hypospadias),
• and an incompletely closed urogenital opening, which resembles a small and shallow vagina.

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 Müllerian duct derivatives.

Causes

It is considered a form of 5-alpha-reductase deficiency involving SRD5A2.^[1][2]

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 parents of 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

• intersex
• ambiguous genitalia
• intersex surgery
• androgen insensitivity syndrome

References

1. Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D (2005). "A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family". Urology 66 (2): 407–10. doi:10.1016/j.urology.2005.02.021. PMID 16098368.
2. Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. pp. 328–. ISBN 978-3-540-78354-1. Retrieved 2 January 2011.