Pseudovaginal perineoscrotal hypospadias 975417 175626562 2007-12-04T02:08:29Z WhatamIdoing 1998764 Not a stub. {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 11 | ICD10 = | ICD9 = | ICDO = | OMIM = 264600 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 1980 | MeshID = | }} '''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 [[ambiguous genitalia|genital ambiguity]] caused by under[[virilization]] 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 [[urethra]]l 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 canal]]s, and the [[karyotype]] is XY. In most cases there are no internal female structures such as a [[uterus]] or other [[mullerian duct]] derivatives. ==Causes== 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: *[[5-alpha-reductase deficiency]]<ref name="pmid16098368">{{cite journal |author=Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D |title=A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family |journal=Urology |volume=66 |issue=2 |pages=407–10 |year=2005 |pmid=16098368 |doi=10.1016/j.urology.2005.02.021}}</ref> *Partial [[androgen insensitivity syndrome]] *[[Testicular dysgenesis]] *[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency]] 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 [[sex of rearing|raised]] as female despite presence of testes and XY chromosomes. Nearly all infants with PPSH are offered [[intersex surgery|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== {{reflist}} [[Category:Andrology]] [[Category:Congenital disorders]]