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

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.