Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation

Abstract

Only one-third of patients with CH and eutopic thyroid gland needed to continue l-thyroxine therapy after re-evaluation. A frequent finding was the persistence of mild hyperthyrotropinemia. The evolution of CH remains difficult to predict, although different clinical features might suggest different outcomes. Mutations in the genes commonly linked to mild forms of CH were documented in a minority of cases.