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.
T et al. (Wed,) studied this question.