Genital ambiguity with a Y chromosome: Does gender assignment matter?

Christopher P. Houk, Jennifer Dayner, Peter Lee

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Recommendations for sex of rearing in newborns with genital ambiguity, testicular differentiation and a Y chromosome continue to be challenging. Complaints from former patients have forced those providing the medical, surgical and psychological care for these individuals to reassess evaluation and treatment strategies. In this paper, the histories of six patients born with genital ambiguity and at least partial testicular differentiation with a karyotype containing a Y chromosome are presented. Three of these patients were assigned as males and three as females. The factors involved in these individuals' adaptation to the assigned gender and their subsequent quality of life are discussed. Factors needing further study, including the parents' ability to accept and support the sex of rearing, the child's temperament, associated psychological disorders, and other influences, such as masculinization of the central nervous system, are highlighted.

Original languageEnglish (US)
Pages (from-to)825-839
Number of pages15
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number6
StatePublished - 2004

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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