Abstract Search

hrp0082p1-d2-79 | Diabetes (1) | ESPE2014

Sequence Analysis of 11 Known Causative Genes in Clinically Diagnosed Children as Maturity Onset Diabetes of Youth by Next Generation Sequencing

Agladioglu Sebahat Yilmaz , Aycan Zehra , Cetinkaya Semra , Bas Veysel Nijat , Onder Asan , Kendirci Havva Nur Peltek , Dogan Haldun , Ceylaner Serdar

Introduction: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseases in the pancreatic βcell that impair insulin secreation. It mostly caused by heterozygous mutations in one of 11 different genes associated with βcell function. The aim of this study is detection of the distribution of both known and novel point mutations of these genes in Turkish population.Pati...

hrp0094p1-2 | Adrenal A | ESPE2021

Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency

Seven Menevse Tuba , Demirkol Yasemin Kendir , Tosun Busra Gurpinar , Bayramoglu Elvan , Yildiz Melek , Acar Sezer , Karaca Seda Erisen , Orbak Zerrin , Onder Asan , Sobu Elif , Anik Ahmet , Atay Zeynep , Bugrul Fuat , Demir Korcan , Dogan Durmus , Emeksiz Hamdi Cihan , Kirmizibekmez Heves , Murat Nurhan Ozcan , Yaman Akan , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied.Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of child...

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ESPE Abstracts

Sequence Analysis of 11 Known Causative Genes in Clinically Diagnosed Children as Maturity Onset Diabetes of Youth by Next Generation Sequencing

Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency

BiosciAbstracts