hrp0089p2-p107 | Diabetes & Insulin P2 | ESPE2018

Congenital Hyperinsulinism in a Child with Alagille Syndrome

Khan Durray Shahwar , Dastamani Antonia , Antell Hannah , Shah Pratik

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

hrp0086fc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Gastrointestinal Dysmotility and Pancreatic Exocrine Insufficiency as Newly Recognised Possible Features in Two Siblings with Donohue Syndrome

Kostopoulou Eirini , Shah Pratik , Semple Robert , Ahmad Noman , Hussain Khalid

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

hrp0086lbp4 | (1) | ESPE2016

Sirolimus Precipitating Diabetes in a Patient with Congenital Hyperinsulinism due to Autosomal Dominant ABCC8 Mutation

Dastamani Antonia , Guemes Maria , Shah Pratik , Hussain Khalid

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...

hrp0082p2-d3-475 | Hypoglycaemia | ESPE2014

Long-Term Follow Up of Children with Congenital Hyperinsulinism on Octreotide Therapy

Demirbilek Huseyin , Shah Pratik , Arya Ved Bhushan , Hussain Khalid

Background: Octreotide, a long-acting somatostatin analogue, is commonly used in diazoxide unresponsive congenital hyperinsulinism (CHI) patients as a second line medication. However, there are no large studies evaluating long-term follow-up CHI patients on octreotide therapy.Objective and hypotheses: To evaluate the dose range, side effects and long-term follow-up in CHI patients on daily octreotide injections.Method: Twenty-eight...

hrp0092p1-205 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Central Hypoventilation Syndrome and Hyperinsulinameic Hypoglycaemia

Dastamani Antonia , Yau Daphne , Gilbert Clare , Morgan Kate , Banerjee Indie , Shah Pratik

Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction and both hyperglycaemia as well as hyperinsulinaemic hypoglycaemia (HH) have been reported. Although the mechanism is unclear, autonomic dysfunction may underlie this dysregulation of glucose homeos...

hrp0092p2-143 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Two Siblings with Tyrosinaemia Type 1 and Transient Hyperinsulinaemic Hypoglycaemia

Sotiridou Ellada , Aftab Sommayya , Dastamani Antonia , Doodson Louise , Batzios Spyros , Shah Pratik

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

hrp0089fc7.1 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Expression and Localisation of Insulin, Glucagon, Amylin, Pancreatic Polypeptide and PDX-1 in Pancreatic Tissue of Children with Congenital Hyperinsulinism

Guemes Maria , Rahman Sofia , Solanky Nita , Gilbert Clare , Morgan Kate , Shah Pratik , Hussain Khalid

Backgound: There is insufficient knowledge about the characterisation of insulin, glucagon, amylin, pancreatic polypeptide (PP) and Pancreas/Duodenum Homeobox Protein 1 (PDX-1) in pancreatic tissue of children with diffuse (DCHI) and focal (FCHI) congenital hyperinsulinism (CHI).Objective(s): To understand the expression profile and localisation of insulin, glucagon, amylin, PP and PDX-1 in pancreatic tissue of children with DCHI and FCHI.<p class="a...

hrp0089fc10.5 | Late Breaking | ESPE2018

A 5-Year Single-Centre Experience on the Safety and Efficacy of Sirolimus Therapy used for the Treatment of Congenital Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Dastamani Antonia , Ashworth Michael , Morgan Kate , Ellard Sian , Flanagan Sarah , Dattani Mehul , Shah Pratik

Background: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

hrp0086p1-p556 | Perinatal Endocrinology P1 | ESPE2016

Pancreatic Glucagon Secretion is Severely Impaired and Somatostatin Secretion Unchanged in Patients with Hyperinsulinaemic Hypoglycaemia

Shah Pratik , Rahman Sofia , Gilbert Clare , Morgan Kate , Hinchey Louise , Bech Paul , Amin Rakesh , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) is a common cause of hypoglycaemia in children. Glucagon is an important counter-regulatory hormone and the role of somatostatin is not known in children with HH.Objective and hypotheses: To understand the roles of glucagon and somatostatin in children with HH.Method: Children admitted for management of HH in our hospital were included in the study. Plasma insulin, glucagon and somat...

hrp0086p1-p562 | Perinatal Endocrinology P1 | ESPE2016

Effectiveness of Calcium Channel Blocker Nifedipine in Children with Hyperinsulinaemic Hypoglycaemia Due to Genetically Proven Mutations in the ABCC8/KCNJ11/GCK Genes

Guemes Maria , Shah Pratik , Silvera Shavel , Morgan Kate , Gilbert Clare , Hinchey Louise , Hussain Khalid

Background: Several previous publications have documented the usefulness of Nifedipine for treating hyperinsulinaemic hypoglycaemia (HI). These reports include transient and persistent forms of HI, with and without known genetics, used in monotherapy or in combination with other drugs, and demonstrate various outcomes.Objective and hypotheses: To systematically trial Nifedipine in children with known HI mutations and diazoxide unresponsive, assessing gly...