46, XY female with cloacal exstrophy and masculinization at puberty

H. Mirheydar, K. Evason, F. Coakley, L. S. Baskin, M. DiSandro

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)408-411
Number of pages4
JournalJournal of Pediatric Urology
Issue number5
StatePublished - Oct 2009
Externally publishedYes


  • Case report
  • Cloacal exstrophy
  • Cryptorchidism
  • Ectopic testis
  • Pediatric urology

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Urology


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