NR5A1 and disorder of sexual differentiation: In the defined cause group, the cases of KS, mosaic KS, MAIS, NR5A1 mutation, and testicular XX were considered DSD (i.e., 19 of 107 [17.7%]), with chromosomal anomalies in KS, mosaic KS, testicular XX, and other autosomal or sex chromosome anomalies (22 of 107 [20.6%]).