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...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...

Background: Central hypothyroidism is rare in children. It is often part of multiple pituitary hormone deficiency but can occur in isolation. Isolated central hypothyroidism may be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating variant of IGSF1, resulting in delayed puberty, central hypothyroidism and macroorchidism.Case presentation: A 15-year-old ma...

Background: Mild isolated neonatal hyperthyrotropinaemia (HTT), defined as elevated thyroid stimulating hormone (TSH) with normal free thyroxine (FT4) concentrations, may be identified by newborn screening programmes for congenital hypothyroidism (CHT) or when neonatal thyroid function tests (TFTs) are performed for a clinical indication. Reported HTT incidence rates vary (from 0.001-0.1%)1. Case definition also varies, with some authors using a TSH...

Background: Disruption of homeostatic functioning of the hypothalamic centres results in hyperphagia, autonomic imbalance, reduction of energy expenditure, and hyperinsulinemia. A syndrome of rapid, unrelenting weight gain is often observed in patients with structural lesions of the hypothalamus. Hypothalamic obesity syndrome (HOS) is often refractory to standard dietary and lifestyle interventions. It has been reported that metformin induces anorectic effects via an increase ...

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report 2 cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: A 17-year-old boy with epidermolysis ...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...