ESPE Abstracts

Background: Hyperglycaemic hyperosmolar state (HHS) is a life-threatening condition rarely seen in paediatrics. It is however becoming increasingly recognised with the growing incidence of childhood type 2 diabetes mellitus (T2DM).Objective and hypotheses: We present a child with Bardet–Biedel syndrome (BBS), with new-onset T2DM presenting in HHS, and discuss the dilemmas encountered in his management due to multiple co-morbidities, including renal ...

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Introduction: Hyperglycemic hyperosmolar state (HHS) and diabetic ketoacidosis (DKA) are life-threatening emergencies in diabetic patients. While DKA at presentation of T1D in children represents about 25% of cases, HHS is very unusual as a first presentation.Case: A 10 year old Haitian-Sudanese boy presented to our ER for obtundation. He had a 10 day history of polydipsia and polyuria followed later by vomiting, for...

Background: Type 1 diabetes mellitus (T1DM) in children carries significant psychological stress for families, as well as considerable long-term complications if good metabolic control is not achieved. Tighter metabolic control carries increased risk of hypoglycaemic episodes, and previous research suggests that families with a high fear of hypoglycaemia will run blood sugars higher in order to avoid this. Continuous glucose monitoring (CGM) provides real time temporal measure...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology is incompletely understood, with weight gain being attributed to hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various plasma appetite-regulating hormones in HyOb and ‘simple’ obesity (Ob) to improve our understanding of both forms of obesity and identify novel therap...

Background: Hypothalamic hamartomas(HH) are rare heterotopic congenital malformations causing central precocious puberty(CPP) and/or resistant epilepsy whose natural history is unknown.Aim: To describe clinical and imaging features, and the risk of developing endocrine deficits, particularly after surgery.Method: Retrospective case note and imaging review of all HH diagnosed by MRI between 30.08.1991 and 24.11.17, analysed by initi...

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

Background: Hypothalamic obesity (HyOb) is a syndrome of inexorable, treatment-resistant obesity seen after congenital (e.g. septo-optic dysplasia (SOD)) or acquired (e.g. tumour-related) hypothalamic damage, often co-existing with hyperphagia, panhypopituitarism, autism, sleep, and temperature dysregulation. Its pathophysiology is poorly understood but hyperphagia and excess caloric intake may be less important than previously thought.Objective and hypo...

Background: Hypothalamic hamartomas(HH)-rare heterotopic congenital malformations (incidence 1:200 000)-present with central precocious puberty (CPP) or gelastic seizures (GS) but their natural history and best treatment strategy are unknown. Given their proximity to the hypothalamus–pituitary axis, wider endocrine dysfunction may be expected.Objective and hypotheses: To describe clinical features and any evolving endocrinopathies in HH patients, by...

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis genes/associated pathways account for mild-moderate to severe GHI cases. We report twin brothers from a non-consanguineous kindred who present with short stature and bi-allelic mutations in QSOX2 encoding the nuclear m...