hrp0089p3-p010 | Adrenals and HPA Axis P3 | ESPE2018

Lipoid Adrenal Hyperplasia Diagnosed with Severe Cholestasis in Newborn

Kaplan Emel Hatun Aytac , Melekoğlu Nuriye Aslı , Keskin Mehmet , Cağatay Derya , Karaer Kadri

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...

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...