hrp0089p2-p029 | Adrenals and HPA Axis P2 | ESPE2018

Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkısh Family: A Novel Mutation in the ‘Aladin’ Gene

Akinci Aysehan , Dundar Ismail , Camtosun Emine , Kayas Leman

Allgrove’s or ‘4A syndrome’ is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called ‘aladin’ (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...

hrp0082p2-d2-279 | Adrenals & HP Axis (1) | ESPE2014

Genotype–Phenotype Discordant Patients with Homozygous Intron 2 Mutation (IVS2) of CYP21 Gene

Camtosun Emine , Siklar Zeynep , Ruhi Hatice Ilgin , Kutlay Nukhet Yurur , Kocaay Pinar , Tukun Ajlan , Berberoglu Merih

Background: 21-Hydroylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH) and resulted from CYP21 gene mutations. Genotype and phenotype are usually concordant. Homozygous intron 2 splice mutation (IVS2/IVS2) is frequently associated with severe enzyme deficit, and causes classical CAH. Here, we present genotype–phenotype discordant members of two different families with IVS2/IVS2 mutation.Family 1: First child of family ...

hrp0095p1-99 | GH and IGFs | ESPE2022

Survey to Investigate Adherence to Growth Hormone Treatment in Children: The Impact of COVID-19 Pandemic

Eren Erdal , Cetinkaya Semra , Denkboy Ongen Yasemin , Tercan Ummuhan , Darcan Sukran , Turan Hande , Aydin Murat , Yavuz Yilmaz Fatma , Kilci Fatih , Sever Eklioglu Beray , Hatipoglu Nihal , Yuksek Acinikli Kubra , Orbak Zerrin , Camtosun Emine , Savas Erdeve Senay , Arslan Emrullah , Ercan, Feyza Darendeliler Oya

Introduction: Treatment adherence is crucial for the success of Growth Hormone (GH) therapy. Non-adherence rates have varied over a wide range from 5% to 80% in the literature. Several factors may have an impact on treatment adherence. Besides, with the COVID-19 pandemic that affected the whole world, there were problems with the hospital admission and routine controls of the patients who used GH treatment.Objective: The...