Searchable abstracts of presentations at key conferences in endocrinology

ea0078oc3.2 | Oral Communications 3 | BSPED2021

Variable responses to sulfonylurea treatment in siblings from the same family with monogenic diabetes due to HNF1A mutation

Franklin Natasha , Hawton Katherine , Giri Dinesh

Background: Maturity onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance, onset before 25 years of age, absence of β-cell autoimmunity, and sustained pancreatic β-cell function. HNF1A mutations account for 70% of MODY cases. Patients with HNF1A MODY are sensitive to sulfonylureas (SU) and can maintain optimal glycaemic control with SU rather than insulin. We describe 2 siblings from the same family with HNF1A</e...

ea0030p6 | (1) | BSPED2012

The use of GH and anastrazole can help optimise linear growth in congenital adrenal hyperplasia due to CYP11B1 mutations

Hawton Katherine , Raine Joseph , Dattani Mehul

Introduction: 11β-Hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) occurring in 1 in 100 000 births. The mainstay of management is with glucocorticoids to prevent virilisation and optimise growth. In this case, a novel approach was applied to improve linear growth in a patient who presented late with an advanced bone age.Case report: The patient was born in Turkey to consanguineous parents. Aged 3 years, ...

ea0078OC8.5 | Oral Communications 8 | BSPED2021

Permanent neonatal diabetes due to KCNJ11 mutation: early successful transition to Glibenclamide and stable glucose profile with multiple daily dosing

Hawton Katherine , Adams Rebekah , Dustan Emily , Giri Dinesh

Introduction: Neonatal diabetes (ND) usually presents before 6 months of age and 50% of cases are transient and 50% permanent with more than 20 known genetic causes. Early recognition and urgent genetic testing are important to enable appropriate, precise treatment. Mutations in KCNJ11 cause ND responsive to glibenclamide, alleviating the need for insulin administration, but there are limited reports of early successful transition.Case: This inf...

ea0085oc7.5 | Oral Communications 7 | BSPED2022

Monogenic obesity is probably not so rare - experience from a large tier 3 paediatric weight management service

Hawton Katherine , Hickingbotham Hannah , Hamilton-Shield Julian , Giri Dinesh

Background: Monogenic obesity is generally considered to only be responsible for a small proportion of genetic obesity with the vast majority attributable to polygenic obesity. Previous studies estimate that monogenic obesity accounts for less than 5% of obesity in Caucasian populations.Aims and method: To identify prevalence and clinical characteristics of monogenic obesity, we reviewed clinical notes of 219 patients currently, or recently (within 24 mo...

ea0045oc8.6 | Oral Communications 8- Diabetes | BSPED2016

Is abuse associated with adolescent overweight and obesity?: A population cohort study

Hawton Katherine , Norris Tom , Crawley Esther , Hamilton-Shield Julian

Background and Objectives: Abuse in childhood is associated with obesity in adult life. However, little is known about the relationship between abuse and obesity during childhood or adolescence. The aim of this study was to investigate, using a birth cohort study, whether there was an association between pre-adolescent child abuse and overweight and obesity in later childhood. We hypothesised that abuse and obesity may be associated.Methods: Using data f...

ea0095oc4.2 | Oral Communications 4 | BSPED2023

A deletion at 20p11.21 region involving FOXA2 causing Congenital Hyperinsulinism and extra pancreatic features

Hawton Katherine , Nath Stuart , Kumar Yadlapalli , Giri Dinesh

Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. FOXA2, a beta-cell transcription factor is localized at the cytogenetic location 20p11.2 and is critical for the development of pancreas and pituitary gland. We describe a child with 20p11.21 deletion e...

ea0095p51 | Late effects of cancer treatment | BSPED2023

Glucagon-like peptide-1 (GLP-1) receptor agonists as a new treatment option for hypothalamic obesity in the paediatric population: Preliminary data from a tertiary paediatric endocrine centre

Hawton Katherine , Chatterjee Sumana , Giri Dinesh , Crowne Elizabeth

Background: Hypothalamic obesity (HO) is defined as rapid weight gain, hyperphagia and lack of satiety due to physical hypothalamic destruction. HO does not usually respond to lifestyle modification and no pharmacotherapies are specifically approved for treating HO. Efficacy of glucagon-like peptide-1 (GLP-1) agonists, which suppress appetite via hypothalamic satiety centres, is uncertain in HO.Case series: We commenced ...

ea0095p142 | Obesity 2 | BSPED2023

Immune modulatory response to rituximab in ROHHAD syndrome

Hawton Katherine , Hogan Andrew , Hamilton-Shield Julian , Giri Dinesh

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity. An immune-inflammatory aetiology has been postulated; however, the immune characteristics and effect of immunomodulation have not been well described.Case report: We describe the immune profile and the effect of rituximab on the immunomodulation potentially ca...

ea0078OC7.1 | Oral Communications 7 | BSPED2021

Utility of glycated haemoglobin in assessing abnormal glucose homeostasis in children and adolescents with obesity undergoing oral glucose tolerance test

Matan Ayaan , Hawton Katherine , Riaz Kulsoom , Shield Julian P H , Candler Toby , Giri Dinesh

Background: Childhood obesity and type 2 diabetes mellitus (T2DM) have increased proportionately in the last decade. Oral glucose tolerance test (OGTT) is recommended for paediatric patients with a BMI >98th centile (NICE, 2014) to identify T2DM or abnormal glucose homeostasis (AGH).Aim: To estimate the proportion of patients with AGH/T2DM seen in a tier 3 obesity service and evaluate the utility of the glycated haemoglobin (HbA1C) in detecting AGH. ...

ea0085oc3.1 | Oral Communications 3 | BSPED2022

A rare form of ovotesticular difference of sex development (DSD) in combination with severe early-onset obesity due to MC4R mutation: clinical features and diagnostic challenges

Hawton Katherine , Narayan Kruthika , Hamilton-Shield Julian , Giri Dinesh , Crowne Elizabeth

Background: We describe a patient with 46XX ovotesticular difference of sex development (DSD) due to 46XX/69XXY gonadal mixoploidy, also an NR5A1 variant, who developed severe early-onset obesity and subsequently a pathogenic MC4R variant was identified.Case Presentation: A term Caucasian baby weighing 3.64kg with non-consanguineous parents presented with atypical genitalia (Prader Stage 2-3) with clitoromegaly, perineal urethral openin...