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: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

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...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...

Introduction: Hypospadias is often associated with reduced testosterone synthesis or action. High rates of complications are reported with surgical repair of hypospadias, including wound dehiscence. Boys with hypospadias have previously been demonstrated to have increased reactive oxygen species (ROS) compared to healthy controls and there is a known link between male hypogonadism and oxidative stress. It is not clear what effect ROS has on wound healing in bo...

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...