While adrenal insufficiency is rare in patients with NR5A1 mutations, it should be considered and evaluated through adrenocorticotropic hormone (ACTH) testing, especially in patients with monoallelic or biallelic NR5A1/SF-1 variants, as it is most frequently observed in patients with these genotypes [35,67]. The gene discussed is POMC; the disease is Adrenal insufficiency.