In 2000, Biason-Lauber and Schoenle described a de novo heterozygous NR5A1 change in a girl who had presented at 14 months of age with primary adrenal insufficiency and seizures (Fig. 2) (Biason-Lauber and Schoenle, 2000). Here, NR5A1 is linked to Adrenal insufficiency.