ESPE Abstracts

Background: The hyperosmolar hyperglycaemic state (HHS) is rare, but recognised, life-threatening clinical entity in children with type 2 diabetes (T2DM). It is also reported as presenting feature in other types of diabetes and metabolic disorders. The estimated mortality in HHS is 10–20%, ten times higher than Diabetic Ketoacidosis (DKA).The mainstay of management involves aggressive fluid therapy with insulin and managing complications namely; rhabdomyolysis, multi-orga...

Background: Hypoglycaemia precipitated by factitious insulin administration presents in a very similar way to hypoglycaemia caused by hyperinsulinism. It is difficult to ascertain clinically if the hypoglycaemia is secondary to exogenous administration or endogenous insulin secretion. Diagnosis is based on circumstantial evidence and biochemical tests which include insulin and C-peptide level.Objective and hypotheses: We would like to report a case of a ...

Introduction: Our Centre is an international referral centre for genetic analysis of children with short stature (SS) and features of GH/IGF-1 resistance. Following candidate gene and whole exome sequencing, diagnoses for ~50% patients remained elusive. Copy number variation (CNV) has not previously been investigated in GH/IGF-1 resistance and we hypothesised that CNVs contribute to the phenotype in our undiagnosed cohort.Experimental Design and Methodol...

Background: Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations greater than the mean and affects 2% of the adolescent population. We present a male patient aged 16, presenting with delayed puberty. On direct questioning the patient revealed he had been taking regular Gamma-Aminobutyric Acid (GABA). These supplements appeared to suppress the hypothalamic-pituitary-gonadal (HPG) axis.<st...

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

Introduction: Resistance to thyroid hormone (RTH) is a relatively uncommon disorder that is usually associated with mutations in thyroid hormone receptor (THR) beta, although rarely THR alpha mutations have been described. RTH beta (RTHB) is often inherited in an autosomal dominant pattern. We describe two cases of RTHB to highlight the significant variations in both clinical presentation and family history.Case 1: A 2 year old patient ...

Introduction: Diabetic retinopathy is a leading microvascular complication and preventable cause of vision loss. NHS diabetes eye screening program (DESP) assesses for early signs, with population prevalence between 3.5% and 24.2%. Understanding the factors involved is important to reduce morbidity.Aims and objectives: Establish clinical characteristics and modifiable risk factors for patients with retinopathy identified...

Introduction: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders characterized by hypoglycemia and inappropriate insulin secretion. Prompt identification of CHI and its genetic causes are essential to minimize the risk of permanent neurological damage as well as guide treatment options for these patients. Although, there are 15 known monogenic forms of CHI, there remain 50% of patients without an identified genetic diagnosis, suggesting tha...

Background: Sickle cell anemia (SCA) leads to chronic end organ damage including the thyroid gland. This is postulated to be due to recurrent hemolysis leading to iron overload, vaso-occlusive crises, micro-vasculature obstruction due to red cell entrapment and frequent transfusions. Some studies have demonstrated a relationship between hypothyroidism and SCA with a prevalence of 6% in children and adolescents. Hypothyroidism may affect brain and physical deve...

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...