Searchable abstracts of presentations at key conferences in endocrinology

ea0051cme2 | CME Training Day Abstracts | BSPED2017

Hypoglycaemic disorders in Neonates & Children

Senniappan Senthil

Glucose is essential for cerebral metabolism. Knowledge of the homeostatic mechanisms that maintain blood glucose concentrations within a tight range is the key for diagnosis and appropriate management of hypoglycemia. Neonatal hypoglycemia can be transient and is commonly observed in at-risk infants. A wide range of rare endocrine and metabolic disorders can present with neonatal hypoglycemia, of which congenital hyperinsulinism (CHI) is responsible for the most severe form o...

ea0078oc2.2 | Oral Communications 2 | BSPED2021

Two cases of McCune-Albright Syndrome with multisystem involvement

Suntharesan Jananie , Senniappan Senthil

Introduction: McCune-Albright syndrome (MAS) is a rare disorder characterized by skeletal lesions, skin hyperpigmentation, and hyperfunctioning endocrinopathies. It is due to the postzygotic gain-of-function mutations in GNAS1, which encodes the α-subunit of the Gs signaling protein. Case 1: A 13 year old boy presented initially with a femur fracture at the age of 5.5 years following minor injury. Café au lait patches were noted. Bone ...

ea0078p52 | Obesity | BSPED2021

A study on Complications associated with Childhood Obesity

Apperley Louise , Senniappan Senthil

Introduction: Childhood obesity is a severe public health concern. Various complications are recognised in adults, but the data remains limited in the paediatric population. Therefore, the aim of this study is to investigate the complications observed in children and young people (CYP) with obesity.Method: Retrospective data collection from 125 CYP aged between 0 and 18 years with a body mass index (BMI) standard deviation score (SDS) of two or more abov...

ea0085p48 | Adrenal 2 | BSPED2022

Phenotypic variability in X-linked adrenoleukodystrophy

Suntharesan Jananie , Senniappan Senthil

Introduction: X-linked adrenoleukodystrophy (X-ALD) is due to mutation in ABCD1 with variable clinical phenotype and severity. Elevated plasma VLCFA is seen in all affected males. However, the clinical phenotype is not collated with VLCFA plasma concentration or by the type of ABCD1 variant. Clinical presentation can be widely variable ranging from childhood cerebral adrenoleukodystrophy (CALD), adolescent CALD, adrenomyloneuropathy and/or adrenal insufficiency. We present a s...

ea0085p74 | Miscellaneous 2 | BSPED2022

Management challenges in a patient with APECED due to endocrine and nonendocrine multisystem involvement

Suntharesan Jananie , Senniappan Senthil

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive condition due to mutation in the autoimmune regulator (AIRE) gene which leads to a variable phenotype with endocrine and nonendocrine multisystem involvement. We present a challenging case of APECED with auto immune hepatitis, mineralocorticoid deficiency and short stature.Case history: A 8-year-old girl born to consanguineous parents, presente...

ea0078OC5.4 | Oral Communications 5 | BSPED2021

Virtual exercise sessions: An innovative way of promoting physical activity in children and young people with obesity

Clarke Ellie , Davies Sioned , Senniappan Senthil

The rising prevalence of childhood obesity is a major public health concern. Approximately 21% of children by the age of eleven are clinically obese, with a further 14% classed as overweight. The causes of obesity of childhood obesity are multifaceted, leading to a complex multi-disciplinary management approach. A high proportion of children and young people do not meet the recommended guidelines of a minimum of 60 minutes physical activity per day. In addition to the barrier&...

ea0078p51 | Obesity | BSPED2021

Raised intracranial pressure – an under-recognised complication of childhood obesity

Apperley Louise , Kumar Ram , Senniappan Senthil

Introduction: Raised intracranial pressure is a well-documented complication of obesity in the adult population, but this remains under-recognised in children and young people. The pathophysiology for this association remains unclear, but the complications of raised intracranial pressure can be devastating including potential visual loss. Therefore, the aim of our study was to investigate this link in children and young people.Method: Retrospective data ...

ea0033p22 | (1) | BSPED2013

Evaluation of Postprandial Hyperinsulinaemic Hypoglycemia in Children

Melikyan Maria , Senniappan Senthil , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycaemia (HH) is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. We aimed to evaluate the clinical and biochemical characteristics of children presenting with postprandial hyperinsulinaemic hypoglycemia.Methods: Retrospective data collection on children who presented with symptomatic postprandial hypoglycaemia. Children with postprandial hypoglycaemia seconda...

ea0033p25 | (1) | BSPED2013

Gene expression profiling reveals possible role of growth factors in beta cell hyperplasia in congenital hyperinsulinism

Senniappan Senthil , Hindmarsh Peter , Hussain Khalid

Introduction: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A are known to cause CHI. There are two histological subtypes of CHI: diffuse and focal. Apart from the functional channel defect, β-cell hyperplasia has been observed in diffuse CHI. We aimed to understand the gene expression pattern in pancreatic tissue of patients with diffuse CHI when compared to normal cont...

ea0030p45 | (1) | BSPED2012

Hyperinsulinaemic hypoglycaemia in newborn twins

Mohamed Zainaba , Senniappan Senthil , Hussain Khalid

Background: Newborn infants have multiple risk factors for developing hypoglycaemia of which, hyperinsulinism is an important cause of both transient and persistent hyperinsulinaemic hypoglycaemia (HH). It can present in newborns infants at term, preterm and newborns with intrauterine growth retardation (IUGR). There have been no previous reports of HH occurring in twins and triplets.Aims and objectives: We report the occurrence of HH in 4 sets of twins ...