ESPE Abstracts

Objective: We aimed to evaluate the relationship between serum myostatin levels and metabolic parameters in children with insulin dependent (Type 1) diabetes mellitus and to show the relationship with sarcopenia in children with insulin dependent diabetes mellitus.Methods: Forty -four patients aged between 8 and 16 years, and 45 control patients were enrolled in the study. Anthropometric measurements and laboratory analy...

Introduction: Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that could be associated with embryonal tumours. Genotype based categorisation of patients enables better screening strategies. We present a patient with BWS who developed atypical congenital hepatoblastoma and atypical Wilms tumour in infancy.Case Report: A 2 day old infant was referred with recurrent hypoglycaemia and high intravenous glucose requirement [>12 mg/kg/min]. He ...

Background: Sitosterolemia, a rare autosomal recessive defect in lipid metabolism, is caused by mutations in the transporter genes ABCG5 and ABCG8 coding receptors on the luminal surface of enterocytes. Thus, hyperabsorption of non-digestible plant sterol in tissue and blood resulting in cardiovascular (CVD) sequalae. Here we report a case of Sitosterolaemia incidentally diagnosed on whole exome sequencing (WES) for bony lesions in a young Saudi girl with asym...

Importance: Current practice of doubling or trebling the basal glucocorticoid (GC) replacement dose during acute illnesses in children and young people (CYP) with GC deficiency is extrapolated from research in adults and not based on robust evidence. Endogenous cortisol levels during acute illnesses in CYP without GC deficiency can provide insight for optimal GC stress dosing for CYP with GC deficiency.Objective: To summ...

We evaluated the final height and the endocrine complications encountered in young adult patients with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC) in non-transfused versus infrequently transfused TI patients.Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology clinic, National C...

Background: Diabetes mellitus type 1 (T1DM) is the most common chronic diseases in children. Studies show that the prevalence of vitamin D deficiency is higher in this group of patients.Objective and hypotheses: The aim of this study was evaluation HbA1C and IGF-1 levels in children with T1DM that receiving vitamin D supplement.Method: A total of 30 diabetic children 5–15 years with 25(OH) D levels lower than 74 nmol/l (29 ng/...

Case Report: Hyperinsulinemia, diagnosed by laboratory tests, should be diagnosed and treated as soon as possible to prevent fatal complications such as neurological damage. Patients who are resistant to medical therapy should be treated surgically. Minimally invasive surgery, a newly developed approach, is a good choice among surgical procedures to avoid unnecessary extensive pancreatectomy. Here, a 12-year-old boy is presented with diagnosis of hyperinsulinemic hypoglycemia ...

Background: It is well-known that human GH (hGH) treatment increases growth rate in idiopathic short stature (ISS) in the short term which might predict the overall height gain. However,the fact that ISS might involve a heterogeneous group of individuals with individual benefits from hGH treatment makes the decision to treat or not to treat difficult.Objective and hypotheses: The aim of this study was to investigate retrospectively whether an IGF1 genera...

Introduction: Widespread changes occur in gene expression in obesity, contributing to metabolic and inflammatory abnormalities. Epigenetic mechanisms play a role in obesity by altering gene expression patterns, and connecting environmental factors to genetic alterations. Histone acetylation is a crucial epigenetic modification that impacts chromatin structure and regulates gene expression. Adipogenesis has been associated with gene-specific increases in histon...

Introduction Up to 75% of Cerebral palsy(CP) children are of spastic diplegic & quadriplegic types with severe malnutrition found in 35% of them which is multifactorial. Motor impairment is strongly corelated with Gross Motor Function Classification(GMFCS) level 3 and above, malnutrition, and low bone mineral density(BMD) assessed via dual energy x-ray absorptiometry(DXA) scan. These children have low age adjusted BMD z scores <-2SD subsequently increas...