45, X/46, XY mosaicism and gender incongruence: ethical, medical, and psychological considerations

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Case report details management of gender incongruence in 45, X/46, XY mosaicism, highlighting ethical challenges.

Gender incongruence complicates management following gonadectomy for a child with 45, X/46, XY mosaicism.
An 8-year-old female with differences in sexual development transitioned to identifying as a boy by age 11.
Limited guidance exists on pubertal induction and gender assignment for children with differences in sexual development.
A non-coercive environment is essential for supporting gender exploration amidst medical and psychological complexities.

Horrigan et al. (2025) studied this question.

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