ESPE Abstracts

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeks’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...

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...

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in infancy caused by dysregulated insulin secretion. The management of severe hypoglycaemia often requires the administration of high dextrose-containing fluids through a central venous catheter (CVC). However, CVCs carry the risk of complications including thrombosis. We sought to determine the incidence of CVC-associated thrombosis in patients with CHI and examine associated risk factors...

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Congenital Hyperinsulinism (CHI) is primarily associated with defects in the regulated release of insulin from ß-cells but little information is available about the role of other islet cell types. Pancreatic polypeptide (PP) cells represent a minor component of the islet endocrine cell population. PP causes satiety, decreases gastrointestinal tract motility and suppresses glucagon release. Since CHI is associated with feeding problems and loss of glucagon-mediated counter...

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). However, the FDA has raised serious concerns regarding diazoxide-induced pulmonary hypertension (PH) in 2015. Although sporadic cases of PH have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH,...

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Previous follow up studies have focused on neurodevelopmental status which is noted to be delayed in as many as 48% of cases. There has been less emphasis on other long-term outcomes in patients with CHI. Given the requirement for high volume carbohydrate in most patients, there are concerns regarding the adverse effects on ...

A full-term baby girl born with birth weight of 2.75 kg (10th–25th percentile) had an uneventful perinatal course and no history of gestational diabetes. She was admitted to nursery on day 4 for poor feeding. Physical examination was unremarkable. Blood glucose was 0.6 mmol/l upon admission and urine ketone was negative. Electrolytes and blood gas were normal. Glucose infusion rate of 11 mg/kg per min was required to maintain euglycemia. Critical samples revealed insulin ...

Background: Wolfram syndrome, also known as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness (DIDMOAD), is a rare neurodegenerative disease of autosomal recessive inheritance with incomplete penetrance. In addition, it may present with different endocrine and metabolic abnormalities such as pituitary dysfunction. We reported clinical features, biochemical features and mutational analysis of a boy with Wolfram syndrome.Case presentation: A 7...

The girl was born full-term vaginally with birth weight 3.380kg. She had stayed in neonatal unit for 3 days for neonatal fever. Physical examination was unremarkable. She had normal-looking female external genitalia. She was discharged after a negative infection screen.She presented again at the age of 11 years with hoarseness of voice. Physical examination revealed normal growth and blood pressure. She had hoarseness of voice with mild laryngeal promine...