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DSD Sex Assignment — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicDSD Sex AssignmentRACP Paediatrics

A newborn is found to have ambiguous genitalia. The family wants to know the sex immediately. What is the correct approach to sex assignment?

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Correct answer: ADefer sex assignment until a comprehensive DSD evaluation is completed by a multidisciplinary team

Sex assignment in DSD should be deferred until comprehensive evaluation: karyotype, 17-OHP (exclude CAH), pelvic USS (identify gonads and Mullerian structures), endocrine evaluation, and MDT discussion (endocrinology, surgery, genetics, psychology). The family should be supported through the process. Sex of rearing is determined by diagnosis, gonadal function, and prognosis for sexual function and fertility.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: DSD