Patients with FGD usually present in the neonatal period or early childhood with symptoms of hypocortisolaemia such as hypoglycaemia, failure to thrive, recurrent infections, collapse and seizures along with severe hyperpigmentation due to the extra-adrenal action of excessive plasma ACTH on MC1R in the skin melanocytes (11). This evidence concerns the gene POMC and Aarskog-Scott syndrome, X-linked.