As DUOX2 has generally been considered a gene involved in disorders of H2O2 generation (11, 34, 35), a majority of previous studies focused on dyshormonogenesis and found that DUOX2 pathogenic variants were present in 62.5% of the cohort consisting of 154 CH patients, with 118 dyshormonogenesis patients and 36 TD patients (33); Sun et al. (32) revealed that DUOX2 was present in 60% of 110 CH patients, including 21 goiter patients, 51 patients with a normal-sized thyroid and 28 patients with unknown thyroid morphology. This evidence concerns the gene DUOX2 and thanatophoric dysplasia.