Pseudovaginal perineoscrotal hypospadias

Infobox_Disease
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DiseasesDB = 11
ICD10 =
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OMIM = 264600
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eMedicineSubj = ped
eMedicineTopic = 1980
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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 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 deficiencycite 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]
*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 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

* intersex
* ambiguous genitalia
* intersex surgery
* androgen insensitivity syndrome

References