hrp0089p3-p377 | Thyroid P3 | ESPE2018

A Very Rare Thyroid Hormone Resistance Case Having Heterozygous Mutation in THRB Genes

Keskin Mehmet , Yılmaz Seniha Kiremitci , Kaplan Emel Hatun Aytac , Karaoğlan Murat , Karaer Kadri , Keskin Ozlem

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...