ESPE Abstracts

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

Introduction: More than 1.1 million children and adolescents are living with Type 1 diabetes mellitus (T1DM) in 2019 worldwide1. Transition period is considered a crucial phase in management of T1DM, where movement of adolescents to adult health care is initiated. During this period, physical, psychological and behavioral changes may make this interval becoming more challenging by which diabetes management can be affected. HbA1c worsening was report...

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

Context: The 45,X/46,XY mosaicism poses a great clinical challenge influencing gonadal development, histology, hormonal balance, and growth. Patients present a wide spectrum of phenotypes with varying degrees of genital ambiguity from Turner Syndrome to male. Here, we present five children with 45,X/46,XY mosaicism presenting with different clinical phenotypes.Case Descriptions:Case 1:</str...

Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.Cases: These are three girls from a consanguineous marriage. They had no particular pathological anteced...

Introduction: Sexual disorders 46 XY are responsible for a range of phenotypic disorders; from an ambiguous phenotype to a complete female phenotype. This is often a sporadic condition. In this context, we report 5 cases of gonadal dysgenesis, 46 XY belonging to the same family and particular phenotypic expression. this particular phenotype arise a question about the link between familial sexual differenciation disorders and the panel of genes involved in sexu...

Background: Patients with congenital adrenal hyperplasia (CAH), due to 21 hydroxylase (OH) deficiency may develop an adverse cardiovascular risk profile as reported by few previous studies.Objective and Hypotheses: Blood pressure (BP) and echo parameters in children with CAH due to 21-OH deficiency were evaluated.Method: This cross-sectional study included 53 children. BP, echocardiographic left ventricular functions as well as gro...

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which more than 90% of CAH cases are caused by mutations of the 21-hydroxylase (CYP21A2) gene.Objective and hypotheses: To determine the mutational spectrum in Egyptian CAH patients attending Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) including family members of CAH patients.Method: The use of reverse hybridization assay for the mol...

Background: Type 1 diabetes (T1D) is characterized by chronic hyperglycemia and microvascular complications like retinopathy, nephropathy, and neuropathy in long term. Nailfold video capillaroscopy (NVC) is a non-invasive method used to examine the microcirculation in the skin. In this study, we aimed to evaluate the microvascular structure in T1D with NVC, observe capillaroscopic alterations, and reveal the relationship of capillaroscopic abnormalities with g...