Comparing patient phenotypes using the ESPE criteria for CH severity based on FT4 levels, biallelic and oligogenic variants were associated with severe CH (73.3%, 11/15) and goiter 90.9%, 10/11), while heterozygous variants in the TG, TPO, DUOX2, and TSHR genes were associated with infants presenting moderate and mild CH (63.2%, 12/19) with a low risk of goiter (25%, 3/12). The gene discussed is DUOX2; the disease is cyclic hematopoiesis.