ESPE Abstracts

Daily subcutaneous (s.c.) injections of growth hormone (GH) to treat GH deficiency (GHD) in children is burdensome for both patients and caregivers. Somapacitan (Novo Nordisk) is a long-acting reversible albumin-binding human GH derivative in development for once-weekly s.c. administration in children with GHD, and aims to overcome the treatment burden of daily injections. REAL4 is a multi-national, randomised, open labelled phase 3 trial with a 52-week main phase followed by ...

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...

Background: Prader-Willi Syndrome (PWS), due to loss of expression from genes within the PWS imprinted region at chromosome 15q11.2-13, is characterized by hypotonia and feeding intolerance in infancy with later development of hyperphagia and obesity. Growth hormone improves tone, body composition, and height and can be started in infancy. Morbidity and mortality in PWS include those secondary to hyperphagia and respiratory illness as well as a 17% reported incidence of sudden...

Gorham-Stout disease(GSD), also known as vanishing bone disease is an extremely rare skeletal disorder characterized by idiopathic intraosseous proliferation of lymphatic vascular structures resulting in progressive resorption of bone. Herein, we report a case of a 4-year-old girl with GSD treated with the combination treatment with bisphosphonate, sirolimus, and atenolol. A 4-year-old girl presented with prolonged back pain for 2 weeks. The thoracolumbar spine radiography rev...

Combined pituitary function test is a dynamic function test used to evaluate the anterior pituitary gland in patients suspected with hypopituitarism. The test comprises insulin challenge test where intravenous insulin injection in order to induce symptomatic hypoglycemia (serum blood glucose <40mg/dL). Insufficient increase in growth hormone and cortisol after the stimulation confirms the diagnosis of growth hormone deficiency and/or adrenal function insufficiency. However,...

Introduction: Nonadherence to insulin therapy is a significant problem worldwide, which is associated with poor health outcomes among patients with type 1 diabetes (T1D). It is important to identify the risk factors related to nonadherence to target those at higher risk of diabetic complications. In Singapore, there is a knowledge gap in understanding the risk factors for insulin nonadherence in paediatric patients with T1D.Objectives: To assess the prev...

Background: Data on prevalence and phenotypic distribution of dyslipidaemia in children with type 1 diabetes (T1D) is scarce. Studies have shown that lipid abnormality tracks from childhood to adulthood and contributes to atherosclerotic process, therefore initial assessment and follow-up is essential.Aims: To study the prevalence and phenotypic distribution of dyslipidaemia in children with T1D and compare with type 2 diabetes (T2D).<p class="abstex...

Background: Retinol binding protein 4 (RBP4) and adiponectin are known to be related with insulin resistance and type 2 diabetes.Objective and hypotheses: This study was aimed at investigating (RBP4) and adiponectin secretion in obese Korean children and adolescents with newly diagnosed type 2 diabetes (T2DM).Method: Nine obese children and adolescents with newly diagnosed T2DM (DM group) and ten obese age-matched subjects without ...

Background: Congenital combined pituitary hormone deficiency (CPHD) has various clinical presentations and can be caused by genetic defects related to pituitary development. We investigated the clinical features and genetic analysis in Korean patients with congenital CPHD.Method: Among 444 patients diagnosed with CPHD between 1994 and 2021 from Seoul National University Children’s Hospital, 43 patients with congeni...

Background: McCune-Albright Syndrome(MAS）is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...