Pseudovaginal perineoscrotal hypospadias

Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. In a sense, this configuration is roughly midway between phenotypical human male genitalia, and phenotypical human 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.

Pseudovaginal perineoscrotal hypospadias
Other names46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias is inherited in an autosomal recessive manner

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]

Diagnosis

Management

Until recently, nonconsentual mutilation of children's genitals is often undertaken to "normalize" their appearance in accordance with a binary model of anatomical sex. Parents often request and/or authorize the reconstructive surgery with the hope of sparing their child the shame and embarrassment which is often associated with being visibly "different" than the child's peers in situations such as school locker rooms etc.. The practice is being met with increasing resistance from the medical community, since an actual medical need for such interventions is often not given. Furthermore, social advocates are working to increase awareness, understanding and acceptance of non-binary sexual anatomy, which is reducing the potential for stigma and shame for people born with intersex or indeterminate anatomy.

See also

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.
Classification
External resources
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