ESPE Abstracts

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...

Background&: Arrhythmias associated with hyperthyroidism are mainly tachyarrhythmias, such as sinus tachycardia and atrial fibrillation. In comparison, hypothyroidism shows several electrocardiographic changes, including sinus bradycardia, low amplitude QRS complexes, QT interval prolongation. There are few reports of bradyarrhythmia with hyperthyroidism, and it remains unclear.Case: The patient is a 13-year-old girl with Down's syndrome. She underw...

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...

Background: Several bone metabolic pathways seem to be disrupted in patients with type 1 diabetes mellitus (T1DM), leading to reduced bone mass.Objective and hypotheses: Our aim was to study bone metabolism markers in children and adolescents with T1DM and their correlation with bone mineral density (BMD).Method: We evaluated 40 patients (mean±S.D. age 13.04±3.53 years, mean±S.D. T1DM du...

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...

Background: Prader-Willi syndrome (PWS) is a rare genetic obesity syndrome associated with relative growth hormone deficiency. Scoliosis is a known association of both PWS and growth hormone therapy (GH), although its role in causation remains uncertain. In the literature, short-term and long-term data revealed no adverse effects of GH on scoliosis. As the metabolic and clinical benefit of growth hormone therapy is established in the management of PWS, it is d...

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet....

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHADNET) is a rare disorder which presents in early childhood.Case presentation: Four years old girl was referred to endocrinology unit with a history of excessive weight gain. Parents noticed a rapid weight gain from 3 years of age with increase food seeking behaviour and daytime somnolence. Her weight was >95th centile and her height was o...

Introduction: Focal disease of the pancreas causing hyperinsulinism (FHI) has 2 essential characteristics 1) the inheritance of a paternally derived mutation in ABCC8 or KCNJ11 in conjunction with loss of a region of the maternal chromosome 11p13.1 and 2) the ability to be cured by resection of the focal lesion while sparing the majority of the pancreas. At the time of surgery the surgeon resects the focal lesion until clear margins are avail...