Pseudovaginal perineoscrotal hypospadias
|Pseudovaginal perineoscrotal hypospadias|
|Synonyms||46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency|
|Pseudovaginal perineoscrotal hypospadias is inherited in an autosomal recessive manner|
|Classification and external resources|
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:
- 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.
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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.
- 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.
- 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.