hrp0084p1-30 | Diabetes | ESPE2015

A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family

Maines Evelina , Hussain Khalid , Flanagan Sarah E , Ellard Sian , Piona Claudia , Morandi Grazia Grazia , Ben Sarah Dal , Cavarzere Paolo , Antoniazzi Franco Franco , Gaudino Rossella

Background: Dominantly acting loss-of-function mutations in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the β-cell potassium channel (KATP), are usually responsible for mild diazoxide-responsive congenital hyperinsulinism (CHI). In rare cases dominant ABCC8 mutations can cause diffuse diazoxide-unresponsive CHI. Recent reports suggest that medically responsive CHI due to a dominant ABCC8 mutation may confer an increase...

hrp0084p3-1061 | Hypo | ESPE2015

Clinical Characteristics and Molecular Analysis of Turkish Patients with Congenital Hyperinsulinism: a Single-Centre Experience with 15 Cases

Agladioglu Sebahat Yilmaz , Aycan Zehra , Cetinkaya Semra , Erdeve Senay Savas , Sagsak Elif , Keskin Meliksah , Kurnaz Erdal , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

hrp0084p3-1063 | Hypo | ESPE2015

Genotype–Phenotype Associations in 90 Children with Congenital Hyperinsulinism

Melikyan Maria , Christesen Henrik , Petryakina Elena , Tulpakov Anatoly , Tihonovich Julia , Stepanov Alexey , Kareva Maria , Flanagan Sarah , Ellard Sian , Brusgaard Klaus , Peterkova Valentina , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...

hrp0084p3-1078 | Hypo | ESPE2015

Long Acting Somatostatin Analogues in the Management of Congenital Hyperinsulinism in Cases with Poor Compliance to Conventional Therapy

Demirbilek Huseyin , Oncel Kahraman , Ozbek Mehmet Nuri , Deniz Ahmet , Baysal Birsen , Arya Ved Bhushan , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Background: Congenital hyperinsulinism (CHI), is the most common cause of severe hypoglycaemia in neonates and infants. The cornerstone of medical therapy is diazoxide. Octreotide, a somatostatin analogue, is the second therapeutic option in diazoxide unresponsive cases. However, due to its short half-life and requirement of multiple daily doses, lack of compliance may cause recurring hypoglycaemia and related neurological deficits, particularly for the family with low socioec...

hrp0097p1-452 | Fat, Metabolism and Obesity | ESPE2023

Single center experience on using Liraglutide in adolescents with obesity +/- Type 2 diabetes

Dauleh Hajar , Pasha Maheen , Gad Hoda , Harris Basma , Khalifa Amal , Petroveski Goran , Afyoni Houda , Shehzad Saira , Chirayath Shiga , Mohamadsalih Ghassan , Mohammed Shaymaa , Malik Rayaz , Hussain Khalid

Background: Childhood obesity is recognized as a chronic illness with limited therapeutic options. Addressing this condition through lifestyle interventions has proven to be challenging, particularly for adolescents, with only minimal outcomes observed. The use of GLP-1 agonists (such as Liraglutide) for reducing body weight in pediatric patients has yielded conflicting results. To date, no studies conducted in the Middle East have reported on the outcomes of ...

hrp0098p1-35 | Diabetes and Insulin 2 | ESPE2024

Diabetes Mellitus in Woodhouse -Sakati syndrome

Amin Rasha , Khalifa Amel , Petrovski Goran , Mohammed Elwaseila , Dauleh Hajar , Haris Basma , Chirayath Shiga , Mohamadsalih Ghassan , Al Bureshad Khalid , Ibrahim Marwa , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. Diabetes mellitus is one endocrine manifestation but there are no comprehensive data on the epidemiology, clinical features, underlying mechanisms, and management, particularly within the Qatari population.Methods: This retrospective study wa...

hrp0092fc15.2 | Late Breaking Abstracts | ESPE2019

HDAC4 Mutations Cause Diabetes and Induce β-Cell FoxO1 Nuclear Exclusion

Gong Maolian , Yu Yong , Vuralli Dogus , Fröhler Sebastian , Kühnen Peter , Du Bois Philipp , Zhang Jingjing , Hussain Khalid , Fielitz Jens , Jia Shiqi , Chen Wei , Raile Klemens

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...

hrp0092p1-207 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Clinical characteristics and long term follow up of 17 patients with permanent neonatal diabetes due to PTF1A distal enhancer mutations

Demirbilek Huseyin , Cayir Atilla , DeFranco Elisa , Kor Yilmaz , Yildiz Melek , Yildirim Ruken , Baran Riza Taner , Demiral Meliha , Haliloglu Belma , Flanagan Sarah E , Ellard Sian , Hussain Khalid , Ozbek Mehmet Nuri

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

hrp0086ha1 | KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy | ESPE2016

KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy

Liang Lei , Jia Shiqi , Frohler Sebastian , Kuhnen Peter , Blankenstein Oliver , Krill Winfried , Khodaverdi Semik , Cao Aidi , Hummel Oliver , Elbarbary Nancy , Hussain Khalid , Voelkl Jacob , Chen Wei , Gong Maolian , Raile Klemens

Background: Mutations in genes involved in insulin secretion or regulation of β cell identity cause both persistent neonatal diabetes (PND) and hyperinsulinemic hypoglycemia of infancy (HHI) pinpointing shared pathogenic mechanisms. KCNQ1 encodes a potassium channel protein, Kv7.1, which is a voltage-gated potassium channel expressed in cardiac tissue, pancreas, inner ear neurons, and other tissues. Variants in or nearby to KCNQ1 were linked t...

hrp0086fc10.3 | Perinatal Endocrinology | ESPE2016

Pharmacokinetics of Long Acting Somatostatin Analogue (Lanreotide) Therapy in Hyperinsulinaemic Hypoglycaemia (HH) and Understanding its Molecular Action via Somatostatin Receptors by Immunohistochemistry

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Guemes Maria , Alam Syeda , Senniappan Senthil , Button Roberta , Margetts Rebecca , Levy Hannah , Santacreu Emma Bascompta , Marti Carles Morte , Lezcano Carles Celma , Amin Rakesh , Hussain Khalid

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...