Here, we described and characterized TSHR mutations in a broad spectrum of thyroid phenotypes, including 4 FNAH cases (with TSHR p.S237N and p.I640V CAMs), 1 SNAH with de novo germline TSHR mutation (p.L629F), 2 TSHR CAMs (p.D633H and p.Y601N) identified in children with toxic single nodules and multinodular goiter, and several TSHR loss-of-function mutations with association to hypothyroidism. This evidence concerns the gene TSHR and hypothyroidism.