There is striking genotype–phenotype correlation among patients with germline and somatic mutations in KCNJ5 and CACNA1H. Several recurrent germline mutations in KCNJ5 (e.g., p.Gly151Arg and p.Thr158Ala) support robust cell proliferation leading to massive adrenal hyperplasia identifiable on CT scan, leading to adrenalectomy (Choi et al., 2011; Scholl et al., 2012). The gene discussed is CACNA1H; the disease is congenital adrenal hyperplasia.