Systematic review finds genotype-phenotype correlations in 46, XY DSD, suggesting evidence-based care models.
NR5A1-related 46,XY DSD is a dynamic condition with high rates of spontaneous virilisation (82%) and minimal adrenal involvement (1.6%). The absence of clear genotype-phenotype correlations and the occurrence of female-to-male gender reassignment support a conservative, longitudinal, patient-centred model of care. Given the unpredictability of individual outcomes, the quantitative estimates from this review support a shift toward evidence-based, longitudinal care that prioritises patient autonomy by deferring irreversible decisions.
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T et al. (2026) studied this question.
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