hrp0084p3-1068 | Hypo | ESPE2015

Pancreatic Hormones in Children with Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Gilbert Clare , Morgan Kate , Rahman Sofia , Hussain Khalid

Background: In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to hypoglycaemia. It is possible that other pancreatic hormones are also dysregulated in CHI.Objectives: i) To verify the utility of Luminex Multiplex to determine pancreatic hormones in the paediatric age. ii) To investigate the response of pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) to a fast in children with CHI due to different...

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...

hrp0092p3-266 | Late Breaking Abstracts | ESPE2019

A Novel Mutation of INSR Gene in a Child with Type A Insulin Resistance

Verdecchia Federica , Akcan Nese , Dastamani Antonia , Morgan Kate , Semple Robert , Shah Pratik

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

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...

hrp0089fc7.2 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Enteroinsular Hormone Responses During Fasting, Oral glucose Tolerance Test and Mixed Meal in Children with Hyperinsulinaemic Hypoglycaemia

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

Objective(s): To understand how plasma concentrations of pancreatic (glucagon, amylin, pancreatic polypeptide (PP), insulin) and gut hormones ‘incretins’ (Glucagon-like peptide 1 (GLP-1) and Glucose dependent insulinotropic peptide (GIP)) change in relation to fasting and feeding (different types of nutrients) in healthy and hyperinsulinaemic hypoglycaemia (HH) children of different ages.Methods: Plasma pancreatic and incretin hormone concentra...

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...

hrp0089p2-p105 | Diabetes &amp; Insulin P2 | ESPE2018

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

Dastamani Antonia , Malhotra Neha , Guemes Maria , Morgan Kate , Rees Clare , Dattani Mehul , Shah Pratik

Introduction: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognised complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report two children diagnosed with PPHH post-oesophageal surgery and the challenges of their management.Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth, was surgically repaired requiring six oesophageal dilatations the first year of life. At ...

hrp0089p2-p191 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Association between Rubenstein-Taybi Syndrome and Hyperinsulinaemic Hypoglycaemia

El-Khairi Ranna , Destamani Antonia , Clements Emma , Morgan Kate , Hurst Jane , Shah Pratik

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...

hrp0086rfc10.4 | Perinatal Endocrinology | ESPE2016

Pharmacokinetics of Intravenous Glucagon in Children with Hyperinsulinaemic Hypoglycaemia

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

Background: Hyperinsulinaemic hypoglycaemia (HH) is one of the common causes of hypoglycaemia in infants and children. It can cause severe brain injury in children if not treated promptly. Diazoxide is first-line treatment for HH. Glucagon infusion is used in the management of children with HH. However it is unclear what dose of glucagon should be used in children.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of intraven...

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...