Patient 1 (family 1), a boy with adrenal insufficiency and 46,XY DSD harbored compound heterozygote novel c.19G>T and c.887C>T variations in the NR5A1 gene coding for Glu7Stop in the DNA binding domain and Thr296Met in the ligand binding domain. The gene discussed is NR5A1; the disease is Adrenal insufficiency.