Endocrine Abstracts

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...

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, ...

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...

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...

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...

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...

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 ...

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...

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. ...

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...