In the case of sporadic CPHD, mutations are only likely to be identified in patients from countries with a high prevalence of mutations and patients who present with a phenotype that strongly favours the analysis of a particular gene, such as LHX3 (hypopituitarism, sensorineural hearing loss and skeletal abnormalities) or HESX1 (hypopituitarism and SOD) [33]. The gene discussed is SOD1; the disease is hypopituitarism.