Pseudovaginal perineoscrotal hypospadias

Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitaliaof 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 ambiguitycaused by undervirilizationof genetic males due to several different intersexconditions.

PPSH usually consists of:

• a phallusmidway in size between penisand clitoris,
• a chordeetethering it to the perineum,
• a urethralopening usually on the perineum (the hypospadias),
• and an incompletely closed urogenital opening, which resembles a small and shallow vagina.

Testesare often palpable in the scrotumor inguinal canals, and the karyotypeis XY. In most cases there are no internal female structures such as a uterusor other mullerian ductderivatives.

Although virilizing disorders like congenital adrenal hyperplasiacan 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
• 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 raisedas 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 urethraor change the malformation, but in some cases may enlarge the penis slightly.

See also

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

This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Pseudovaginal+perineoscrotal+hypospadias Wikipedia article Pseudovaginal perineoscrotal hypospadias.