Mutations in human MC2R are associated with familial glucocorticoid deficiency (FGD), which manifests with low levels of cortisol and high levels of ACTH due to the impairment in cortisol-mediated negative feedback to the hypothalamic release of corticotropin-releasing factor and to the pituitary release of ACTH (Ramachandrappa et al., 2013). The gene discussed is POMC; the disease is Aarskog-Scott syndrome, X-linked.