ESPE Abstracts

Introduction: Barakat Syndrome (HDR Syndrome) components are hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated with deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: An 11 years old female, was born to non-consanguineous parents. She came to an emergency department complaining of the occurrence of one attack of tonic convulsion...

Background: Vitamin D deficiency is prevalent in infants and children in underdeveloped countries. Secondary myelofibrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and bone aplasia strongly suggested myelofibrosis.Case report: We report a case of myelofibrosis in two years old boy with severe vitamin D deficiency rickets and hepatosplenomegaly. He presented wi...

Objectives and Study: To compare the bone mineral density (BMD) between children with cow milk protein allergy (CMPA) and those who are healthy as control subjectsMethods: This study was carried out on forty children with cow milk protein allergy attending the Alexandria University Children's Hospital nutrition clinic and compared to forty apparently healthy children of matched age and sex as a control group. Anthro...

Introduction: Glycogen storage disease (GSD) type 0 and growth hormone (GH) deficiency cause ketotic hypoglycemia via diverse mechanisms and are not known to be associatedCase Report: 10 years old girl presented with recurrent fasting ketotic hypoglycemia, with short stature (HSD: - 4 SDS), with Tanner stage 1, golden sample revealed glucose 42 mg /dL, low insulin and low GH, cortisol and free thyroxine levels were norma...

Introduction: Thyroid autoimmunity in chronic urticaria is a growing process and maybe manifested before concomitant with, or several years after the appearance of the urticaria. The association of chronic urticaria with autoimmune thyroid disease has frequently been reported in adults. Limited cases have been reported in children.Case Report: Here we describe an eleven years old girl. Who was born to non-consanguineous ...

Background: Children with congenital adrenal hyperplasia (CAH) need chronic glucocorticoid therapy, both to replace congenital deficit in cortisol synthesis and to suppress the overproduction of androgens by the adrenal cortex. High doses of glucocorticoid taken chronically might affect bone metabolism and lead to alterations of bone mass in this condition. In particular, they could increase bone resorption rate. Bone mineral density (BMD) by energy X-ray abso...

Background: Beta thalassemia major (BTM) is considered a major health problem. Despite optimal conventional treatment, bone disease comprising of low bone mineral density (BMD), bone pain, and fractures is still a characteristic feature of thalassemia. The etiology of bone disease in thalassemia is multifactorial. vitamin D receptor (VDR) mediates the action of 1,25(OH)2D, The VDR genetic variations may be responsible for modifying the activity of VDR protein.<p class="abs...

Background: Inflammatory bowel disease (IBD) is a chronic condition marked by immune-mediated inflammation of the gastrointestinal tract, significantly affecting bone growth and bone mineral density (BMD).Objective: This study aims to evaluate BMD in pediatric patients with IBD.Methods: The study involved thirty children diagnosed with IBD attending the Alexandria University Childr...

Background: Early onset obesity in children is a multifactorial disorder with significant genetic underpinnings. This research focuses on identifying and characterizing the genetic variants associated with this condition.Objective: To identify genetic variants associated with early onset obesity in children. Subjects and Methods: This study was carried out on 1,540 children diagnos...