Avoidance of ambiguity about gender

Article Outline

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Decisions about sex for children born with ambiguous genitalia were once within the province of pediatric surgeons and urologists, who based the decision largely upon surgical considerations. There was little tolerance for “ambiguity” in these decisions, often made with little other input, especially from parents.

A number of trends have altered this situation markedly. First, there have been some widely publicized situations in which adults assigned to a “surgical” sex have sought reassignment because they realized that their sex of rearing was not consistent with their personal sexual identity. Thus a fairly vocal community of patients and family members have advocated for discussion and family input in this decision. Second, the realization that hormonal imprinting on the developing CNS may be a more important and lasting determinant of sexual identity than the appearance of the external genitalia.

In this context, Diamond et al undertook a survey of practicing pediatric urologists, asking for their recommendations on sex of rearing for two hypothetical scenarios. Although there was near unanimity that a severely masculinized 46XX infant with congenital adrenal hyperplasia should be raised female, the case of a 46 XY with choacal extrophy was more controversial. Those favoring female assignment cited the technical difficulties of creating “functional” male genitalia. On the other hand, concerns about CNS androgen imprinting led others to recommend male assignment.

No single practicing pediatrician—generalist or specialist—is likely to become the “final word” on such a child’s management. Many, however, may find themselves consulted for advice and guidance. The study by Diamond et al is a powerful reminder that there is disagreement even among specialists, and reinforces the fact that such decisions must be made by a team, including the parents, that is fully current on all aspects of scholarship regarding these difficult situations.