hrp0094p1-196 | Thyroid B | ESPE2021

Clinical and Molecular Presentation of Congenital Hypothyroidism Caused by Thyroglobulin Gene Mutations

Bakhamis Sarah , AlSagheir Afaf , AlShareef Itizan ,

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...