Catalog

Transient congenital hypothyroidism due to heterozygous mutations of THOX2

No MMS code

Link to WHO Definition

Transient congenital hypothyroidism due to heterozygous mutations of THOX2 – http://id.who.int/icd/entity/1663592623

Defects in the thyroid oxidase 2 (THOX2) gene result in a lack of H2O2, which is a protein essential for thyroid hormone synthesis. Therefore, heterozygous mutations in this gene lead to transient congenital hypothyroidism.