Searchable abstracts of presentations at key conferences in endocrinology

ea0085cme3.2 | CME Symposium 3 | BSPED2022

Neonatal diabetes

Flanagan Sarah

In recent years there has been significant progress in defining the genetic aetiology of neonatal diabetes with disease-causing variants identified in over 30 genes. These genes are all recognised as having a critical role in the development, function, or destruction of the pancreatic beta-cell. Targeted next generation sequencing allows for the rapid, simultaneous screening of all 30 known neonatal diabetes genes. This analysis provides an accurate genetic diagnosis for over ...

ea0027p80 | (1) | BSPED2011

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

Kapoor Ritika , Flanagan Sarah , Ellard Sian , Hussain Khalid

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease. The clinical heterogeneity may range from mild subtle hypoglycaemia to severe life threatening hypoglycaemia. The commonest genetic cause of congenital hyperinsulinism are mutations in the genes ABCC8 and KCNJ11 encoding the two subunits (SUR1 and Kir6.2 respectively) of the pancreatic β-cell KATP channel. In the Ashkenazi Jewish population two founder mutation...

ea0077ec1.1 | Early Career Prize Lecture Basic Science | SFEBES2021

Gene discovery in neonatal diabetes to uncover the mechanisms regulating human pancreas development

De Franco Elisa , Wakeling Matthew , Owens Nick , Johnson Matthew , Flanagan Sarah , Hattersley Andrew T

Understanding how pancreatic beta-cells develop during human development is essential to advance current protocols aimed at developing insulin-producing beta-cells in vitro and highlight therapeutic targets for diabetes treatment. Identifying the single-gene mutations which result in individuals developing diabetes in the first 6 months of life (a condition called neonatal diabetes) has the potential to give unique insights into the genes regulating human beta-cells w...

ea0039ep85 | Miscellaneous/other | BSPED2015

Digenic mutation resulting in a rare form of diazoxide responsive congenital hyperinsulinism

Giri Dinesh , Flanagan Sarah E , Ellard Sian , Didi Mohammed , Senniappan Senthil

Introduction: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (M...

ea0033oc4.4 | Oral Communications 4 | BSPED2013

Special features of neonatal diabetes in a series of Arab patients from the Gulf region

Deeb Asma , Abiary Mohamed , Attia Salima , Osman Amani , Flanagan Sarah , Ellard Sian

Advances in molecular genetics revealed various causes for neonatal diabetes (ND) Wider clinical awareness led to recognition of different phenotypes. In areas like the Gulf, it is expected that the incidence of ND to be higher due to the high frequency of consanguinity. The different ethnic background might result in different causes and phenotypes of ND compared to data reported from the west.We report 19 patients from 11 families with ND. All patients...

ea0033p21 | (1) | BSPED2013

Long-term endocrine and exocrine outcome of medically unresponsive diffuse congenital hyperinsulinism managed with near-total pancreatectomy: 18 years' experience

Arya Ved Bhushan , Alam Syeda , Senniappan Senthil , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Introduction: Diffuse congenital hyperinsulinism (CHI) is a major cause of severe hypoglycaemia. One treatment option is near-total pancreatectomy, which carries a risk of diabetes mellitus (DM) and pancreatic exocrine insufficiency.Objective: We report our centre’s experience on 36 consecutive medically unresponsive diffuse CHI children managed with near-total pancreatectomy.Methods: Following near-total pancreatectomy, these...

ea0027p59 | (1) | BSPED2011

Permanent neonatal diabetes mellitus due to a homozygous R397L (Glucokinase) mutation managed with CSII therapy

Senniappan Senthil , Flanagan Sarah , Hindmarsh Peter , Ellard Sian , Russell-Taylor Michelle , Peters Catherine

Introduction: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...

ea0027p79 | (1) | BSPED2011

Clinical characterisation of hyperinsulinaemic hypoglycaemia associated with intra-uterine growth restriction

Kapoor Ritika , Flanagan Sarah , Kumaran Anitha , Shield Julian , Ellard Sian , Hussain Khalid

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...

ea0024oc1.8 | Oral Communications 1 | BSPED2010

Clinical and Molecular Characterisation of 300 patients with Congenital Hyperinsulinism

Kapoor Ritika R , Flanagan Sarah E , Shield Julian P , Ellard Sian , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

ea0016p246 | Diabetes and cardiovascular diseases | ECE2008

Phenotypically heterogenous neonatal diabetes within one family caused by a new mutation in the sulphonylurea receptor SUR1 (ABCC8)

Deiss Dorothee , Kordonouri Olga , Burger Walter , Herr Mathias , Flanagan Sarah , Elliard Sian , Hattersley Andrew , Raile Klemens

Background: Neonatal diabetes (ND) is a rare, mostly sporadic disorder diagnosed within the first 6 months of life that can either be transient or permanent. We report on a family of four phenotypically heterogenous subjects with ND characterized by a new heterozygous missense mutation (D212I) in exon 5 of the ABCC8 gene encoding the SUR1 subunit of the KATP channel.Patients: In each of small-for-gestational-age (SGA) female monocygous twins, ...