ESPE Abstracts

Objectives: Pseudohypoaldosteronism type 1(PHA 1) is a rare hereditary disorder characterized by resistance to the actions of aldosterone. Two different modes of inheritance with different mechanisms and clinical manifestations have been described, Autosomal recessive that affects the epithelial sodium channel (ENaC),the defect is permanent and affects all aldosterone target organs. Autosomal dominant or sporadic PHA 1, affects the mineralocorticoid receptor i...

Objectives: Sanjad-Sakatti syndrome or hypoparathyroidism-retardation-dysmorphism syndrome (HDRs) is a rare autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay.Methods: Thirteen unrelated Palestinian infants to a consanguineous Palesti...

Background: Permanent neonatal diabetes mellitus (PNDM) is a persistent hyperglycaemia diagnosed within the first 6 months of life. A correct genetic diagnosis can affect treatment and clinical outcome. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration and failure to thrive. Insulin production is inadequate, requiring exogenous insulin therapy. The treatment corrects the hyp...

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...

Aim: There is a well described association between diabetes and deafness in many syndromes Collect baseline data about syndromes of diabetes and deafness in Sudan and the underline etiology.Methods: All records of patients with diabetes registered from (Jan.2006 to Dece.2015) were reviewed. Those confirmed to have deafness where further reviewed to find the etiology and management.Result: Ten cases of Wolfram syndrome were identifi...

Introduction: Packed red blood cell (PRBC) transfusions are an essential component of leukemia treatment regimens. Transfusion-induced iron overload can be seen after approximately 10 to 20 transfusions. Very little is known about transfusion-related iron burden in oncology populations and its possible effect on endocrine function and glycemia.Patients and methods: We evaluated growth parameters and endocrine disorders in relation to the iron overload st...

Introduction: Skin barrier defects play central role in the pathogenesis of atopic dermatitis (AD) affecting local immunity and skin hydration. Severe AD may deleteriously affect growth and nutrition in these children.Objectives: To 1) measure the effect of AD on linear growth in infants and children 2) to study the effect of hypoalbuminemia and hypo-proteinemia on the growth of these children.Methods: We studied linear growth and ...

Introduction: Children’s type 1 diabetes is a rare entity, its prevalence is still poorly known, which makes its diagnosis, therapeutic management and prognosis increasingly difficult and uncodified. The purpose of our study is to report the experience of the Endocrinology - Diabetology and Nutrition Department in the management of diabetes in children.Methods: This is a retrospective, descriptive study including 1...

Introduction: We refer to precocious puberty when signs of puberty appear early: before the age of 8 in females and before the age of 9.5 in males. The objective of our study is to evaluate the interest of the LHRH test in the exploration of early puberty.Materials and Methods: A retrospective descriptive study including 19 cases who presented with signs of precocious puberty. A clinical and hormonal evaluation was perfo...

Introduction: The clinical and genetic characteristics of T1D cases with and without affected family members have been previously studied with varying results. Some investigators found a similarity of presenting features whereas others reported significant differences between the two groups.Patients and methods: This was a cross sectional descriptive study to determine the clinical presentation and prevalence of beta cell autoimmunity (Anti GAD, anti-isl...