Clinical Endocrinology & Metabolism

 The role of GLIS3 in thyroid disease as part of a multisystem disorder
 
Congenital hypothyroidism is the most common hereditary endocrine disorder. In a small number of cases, mutations have been identified that are associated with maldevelopment and maldescent of the thyroid. Some of these mutations present as syndromes with a multisystem phenotype such as NKX2-1, PAX8, and FOXE. The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mutation responsible for this presentation.