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...

Background: Compared to children without the disease, children with food allergy are stunted, which is positively correlated with the amount of food eliminated and the duration of the diet.Objective: To compare the effect of an elimination diet on growth between children with cow milk allergy and those who are healthy as control subjects.Subjects and Methods: This study was carried...

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: Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these variants do not fully explain the heritability of obesity, other forms of va...

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: Intussusception is a life-threatening illness, with incompletely understood etiology, although some predisposing factors are known. Intussusception frequently occurs in well-nourished chubby infants.Aims We aimed to determine whether patients presenting with intussusception have a high prevalence of obesity.Patients and Methods: This cross-sectional study was conducted ...

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...