ESPE Abstracts

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...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...

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: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Background: Tissue Doppler echocardiography can predict early stages and progression of diabetic cardiac changes; especially ventricular dysfunction, a complication that adversely affect the quality of life and prognosis of the disease.Objective and hypotheses: The aim of this study was to assess systolic and diastolic functions of both ventricles in type 1 diabetes (T1D) patients by conventional and Tissue Doppler echocardiography, and to correlate card...