Searchable abstracts of presentations at key conferences in endocrinology

ea0058oc8.1 | Oral Communications 8 | BSPED2018

Five year outcomes in a cohort with hypoglycaemia due to congenital hyperinsulinism

Al-Hashmi Laila , Estebanez Maria , Banerjee Indi

Background: Congenital hyperinsulinism (CHI) is one of the commonest causes of recurrent hypoglycaemia due to excess production of insulin in infancy and results in neurological impairment in a third to a half of patients. The treatment of CHI is often complex and complicated by side effects; the medium-term effects of such treatment are not known.Aim: To describe five year clinical outcomes in a cohort of infants with CHI.Methods:...

ea0078p44 | Miscellaneous | BSPED2021

Interpretation of CGM-measured nocturnal hypoglycaemia in congenital hyperinsulinism

Yang Leyi , Worth Chris , Salomon Estebanez Maria , O‘Shea Elaine , Banerjee Indi

Background: Congenital Hyperinsulinism (CHI) is characterised by dysregulated and excess secretion of insulin leading to severe hypoglycaemia. Monitoring of glucose levels is essential in this condition as prolonged hypoglycaemia can cause life-threatening complications such as permanent neurological impairment. Interstitial glucose monitoring by continuous glucose monitoring (CGM) devices can identify nocturnal hypoglycaemia retrospectively through data analysis. Analysis can...

ea0045p56 | Miscellaneous/other | BSPED2016

Doubtful efficacy of Sirolimus in the treatment of patients with severe congenital hyperinsulinism

Estebanez Maria Salomon , Han Bing , Padidela Raja , Mosinska Karolina , Stevens Adam , Dunne Mark , Banerjee Indi

Introduction: Congenital hyperinsulinism (CHI) is a disesase of severe hypoglycaemia, often due to in mutations in ABCC8/KCNJ11. Sirolimus, an mTOR inhibitor, has been reported to be successful in CHI patients, but the evidence is limited. We have aimed (i) to review the efficacy and safety profile of sirolimus, (ii) to assess the role of mTOR signalling pathways in CHI, (iii) to assess the impact of sirolimus in CHI pancreatic tissue.Methods: P...

ea0045p58 | Miscellaneous/other | BSPED2016

Assessing impact of the provision of accessible information to families with Congenital Hyperinsulinism (CHI)

Trimarco Lauren , Banerjee Indi , Rigby Lindsey , Bowden Louise , Estebanez Maria Salomon , Cosgrove Karen , Nicholson Jacqueline

Introduction: Parents of children with complex diseases require easily understandable information about their disease to improve health outcomes. Improved disease understanding will also aid shared decision making between clinicians and families. Congenital hyperinsulinism (CHI) is a rare and complex disease of hypoglycaemia associated with significant neurodevelopmental morbidity for which online video-sharing information resources are available. The utility of such informati...

ea0045p59 | Miscellaneous/other | BSPED2016

Generalised lipodystrophy as a rare presentation of a hypothalamic tumour

Estebanez Maria Salomon , Douzgou Sofia , Fedee Joanne , Semple Robert , Skae Mars

Introduction: Generalised lipodystrophy is clinically characterised by lipoatrophy, hepatomegaly, hypertriglyceridemia, insulin resistance and acromegaloid features. It is recognised that diencephalic syndrome is a rare presentation of hypothalamic tumours in infants and young children. Children with this disorder have profound emaciation and generalised loss of subcutaneous fat, growth acceleration, hyperkinesia and euphoria. Hypothalamic tumours, particularly pilocytic astro...

ea0039ep86 | Miscellaneous/other | BSPED2015

The use of glucagon in the treatment of hypoglycaemia due to congenital hyperinsulinism

Jadawji Chandni , Estebanez Maria , Padidela Raja , Bowden Louise , Rigby Lindsey , Kinzell John , Cosgrove Karen , Dunne Mark , Banerjee Indraneel

Background: Congenital hyperinsulinism (CHI) can cause severe hypoglycaemia with consequent adverse neurodevelopment. Continuous glucagon infusion (CGI) through intravenous and subcutaneous routes has been utilised to achieve glycaemic stability, but the efficacy has not been reported systematically in a CHI cohort.Aim: We aimed to investigate the efficacy and safety profile of CGI in the management of hypoglycaemia due to CHI.Meth...

ea0045p51 | Miscellaneous/other | BSPED2016

Altered islet architecture in congenital hyperinsulinism in infancy

Mal Walaa , Salomon-Estebanez Maria , Han Bing , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. CHI arises from mutations in ion channel genes (ABCC8/KCNJ11), which lead to inappropriate insulin secretion. CHI is also associated with increased cell proliferation and altered islet cell development. The aim of this study was to investigate the composition of the islet capsule in CHI and to relate this to the organisation of islet cells.</p...

ea0045p52 | Miscellaneous/other | BSPED2016

Enhanced islet cell neogenesis and endocrine cell differentiation are pathognomonic with congenital hyperinsulinism in infancy

Hardwick Elise , Han Bing , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release from islet β-cells. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with the inappropriate expression of foetal-like transcription factors and enhanced cell proliferation. We hypothesised that islet cell differentiation and neogen...

ea0045p54 | Miscellaneous/other | BSPED2016

The profiles of insulin secretory granules are markedly different in β-cells of patients with either focal or diffuse Congenital Hyperinsulinism in Infancy (CHI)

Han Bing , Mohamed Zainab , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: The mechanisms responsible for inappropriate insulin release from β-cells in Congenital Hyperinsulinism in Infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects (due to mutations in ABCC8 or KCNJ11) is the same in diffuse- and focal disease.<p class="abst...

ea0045p57 | Miscellaneous/other | BSPED2016

New histological characterisation of focal lesions and clinical implications

Estebanez Maria Salomon , Craigie Ross , Han Bing , Mal Walaa , Mohammed Zainab , Newbould Melanie , Cheeseman Edmund , Bitetti Stefania , Rigby Lindsey , Banerjee Indi , Dunne Mark

Introduction: Congenital Hyperinsulinism (CHI) is a heterogeneous condition caused by dysregulation of insulin secretion. Paternally inherited mutations in ABCC8 or KCNJ11 are associated with loss of the maternal 11p15 allele in focal CHI (CHI-F). CHI-F can be curative after selective lesionectomy. However, histological heterogeneity within the CHI-F lesions has not been previously reported. We aimed to examine the diversity in focal lesions and correlate wit...