A study that included 353 subjects with germline PRKAR1A pathogenic variants or a diagnosis of CNC and/or PPNAD showed that among subjects with i-PPNAD and PRKAR1A defects the germline c.709–7del6 defect was more frequent whereas the remainder of these patients carried the p.Met1Val defect, and subjects less than 8 years of age rarely had PRKAR1A defects (52). Here, PRKAR1A is linked to primary pigmented nodular adrenocortical disease.