hrp0095p1-41 | Diabetes and Insulin | ESPE2022

A Rare Cause in Childhood: Mody 11

Derya Bulus Ayse , Yasartekin Yuksel

MODY (Maturity Onset Diabetes of Youth), mitochondrial diabetes, Wolfram syndrome, neonatal diabetes and the group of special syndromes seen due to gene defects that cause insulin resistance are called monogenic diabetes. MODY is an autosomal dominant form of diabetes with a relatively young onset. It constitutes 2-5% of all diabetes cases. The presence of more than one affected family member in extended families has facilitated studies of this type of diabetes. In monogenic d...

hrp0095p2-20 | Adrenals and HPA Axis | ESPE2022

Autoimmune Polyglandular Syndrome Type 2: Two Different Applications

Derya Bulus Ayse , Yasartekin Yuksel , İnözü Mihriban

Autoimmune polyglandular syndrome (APS), on the other hand, is a cluster of endocrine disorders resulting from immune dysregulation, often accompanied by damage to non-endocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2). Type 2 APS is characterized by the development of organ- and tissue-specific antibodies. In those with Addison's disease, antibodies to the 21-hydroxylase enzyme found in the adrenal cortex are present in more than 90% of patie...

hrp0095p2-26 | Adrenals and HPA Axis | ESPE2022

3 β-Hydroxysteroid Dehydrogenase Deficiency, Rare in the Diagnosis of Congenital Adrenal Hyperplasia: A Case Report

Derya Bulus Ayse , Yasartekin Yuksel , Guran Tülay

A defect in one of the 5 enzymes related to the cortisol biosynthesis pathway (cholesterol side chain degradation enzyme, 3-beta-hydroxysteroid dehydrogenase, 17-hydroxylase, 21-hydroxylase and 11-hydroxylase) is responsible for the formation of KAH. Congenital Adrenal Hyperplasia (CAH) is seen in newborn babies with a frequency of 1/10,000-16,000. The most common 21 hydroxylase enzyme deficiency. 3-β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of ...