In a recent cohort of 353 patients with a germline PRKAR1A defects or a diagnosis of CNC and/or PPNAD, a genotype–phenotype correlation was performed; the study showed that the majority of patients with PRKAR1A defects and PPNAD harbored a germline c.709-7del6 variant while the remaining isolated PPNAD patients had the p.Met1Val alteration [28]. This evidence concerns the gene PRKAR1A and primary pigmented nodular adrenocortical disease.