Discordant Sexual Identity in Some Genetic Males with Cloacal Exstrophy Assigned to Female Sex at Birth

TLDR

Cloacal exstrophy is a rare, complex pelvic defect in genetic males that causes severe phallic inadequacy, and for the past 25 years clinicians have assigned these infants to female sex, although outcome data are limited. In this cohort of 16 genetic males, 14 were socially, legally, and surgically assigned female at birth while two were not, and participants were followed for 34–98 months and grouped by their self‑reported sexual identity. Among the 16 participants, 8 of the 14 assigned female identified as male, 5 lived as females, 3 had unclear identity (two of whom declared male), and 8 lived as males (six having reassigned), with all showing typical male interests, indicating that routine neonatal assignment to female sex can lead to unpredictable sexual identification and warrants reevaluation of such interventions.

Abstract

Cloacal exstrophy is a rare, complex defect of the entire pelvis and its contents that occurs during embryogenesis and is associated with severe phallic inadequacy or phallic absence in genetic males. For about 25 years, neonatal assignment to female sex has been advocated for affected males to overcome the issue of phallic inadequacy, but data on outcome remain sparse.We assessed all 16 genetic males in our cloacal-exstrophy clinic at the ages of 5 to 16 years. Fourteen underwent neonatal assignment to female sex socially, legally, and surgically; the parents of the remaining two refused to do so. Detailed questionnaires extensively evaluated the development of sexual role and identity, as defined by the subjects' persistent declarations of their sex.Eight of the 14 subjects assigned to female sex declared themselves male during the course of this study, whereas the 2 raised as males remained male. Subjects could be grouped according to their stated sexual identity. Five subjects were living as females; three were living with unclear sexual identity, although two of the three had declared themselves male; and eight were living as males, six of whom had reassigned themselves to male sex. All 16 subjects had moderate-to-marked interests and attitudes that were considered typical of males. Follow-up ranged from 34 to 98 months.Routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings.