46, XY female with cloacal exstrophy and masculinization at puberty

J Pediatr Urol. 2009 Oct;5(5):408-11. doi: 10.1016/j.jpurol.2009.03.013. Epub 2009 Jul 9.

Abstract

Cloacal exstrophy of the bladder is a rare complex disorder occurring 1 in 400,000 live births and associated with cryptorchidism, vesicoureteral reflux, severe phallic inadequacy, omphalocele with short-gut syndrome, exstrophied bladder separated by exstrophied ileocecal segment, and pubic symphyseal diastasis. The association of undescended and ectopic testis with cloacal exstrophy is not uncommon, but the presence of an unexpected persistent ectopic testis at the time of puberty is quite unusual. We report the case of a 17-year-old girl with a history of 46, XY cloacal exstrophy and gender reassignment presenting with an ectopic testis of unclear location. We then review controversial literature surrounding gender assignment in these patients.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Bladder Exstrophy / complications*
  • Bladder Exstrophy / genetics
  • Cloaca
  • Cryptorchidism / complications
  • Cryptorchidism / genetics
  • Disorders of Sex Development / complications*
  • Disorders of Sex Development / genetics
  • Female
  • Humans
  • Male
  • Puberty
  • Testis / abnormalities*