ESPE Abstracts

Background: The association of intrauterine growth restriction (IUGR), adrenal insufficiency and gonadal dysgenesis is well recognised. Some children have been reported to develop monosomy 7 and myelodysplasia. However, the genetic basis of this condition was poorly understood.Objective and hypotheses: Our aim was to investigate the genetic basis of eight children with IUGR, adrenal insufficiency and gonadal failure and additional features including seve...

Context: Monogenic obesity (MO) is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the MC4R and Leptin genes are the commonest causes of MO. Determining the genetic causes has important clinical benefits as novel therapeutic interventions were developed for some forms of MO.Objective:<...

Background and aim: Hypothyroidism could be accountable for cardiovascular diseases; hence, necessity of novel biomarkers being capable to predict patient’s status is indispensable. The aim of this study was to appraise alteration of plasma visfatin levels (as a newly discovered proteins) and its association with lipid profiles of hypothyroid patients.Materials and methods: In this cross-sectional, descriptive, and analytical study, 30 children bein...

Introduction: The growing pandemic of type 1 diabetes is considered as an enormous multifactorial public health challenge in the world. Many targeted interventions should be provided to improve type 1 diabetes management especially during childhood and adolescence.The purpose of this study is to elucidate the epidemiological, clinical and management profile of type 1 diabetes in Moroccan children and adolescents followed up in t...

Background: Childhood obesity is highly prevalent in the MENA region and may be associated with sub-clinical neuropathy.Methods: Children with obesity with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and Type 2 diabetes Mellitus (T2DM) and healthy controls (HC) underwent body composition analysis, assessment of vibration perception threshold (VPT), monofilament sensitivity and corneal confocal micros...

Objective: We aimed to evaluate the relationship between serum myostatin levels and metabolic parameters in children with insulin dependent (Type 1) diabetes mellitus and to show the relationship with sarcopenia in children with insulin dependent diabetes mellitus.Methods: Forty -four patients aged between 8 and 16 years, and 45 control patients were enrolled in the study. Anthropometric measurements and laboratory analy...

Introduction: Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that could be associated with embryonal tumours. Genotype based categorisation of patients enables better screening strategies. We present a patient with BWS who developed atypical congenital hepatoblastoma and atypical Wilms tumour in infancy.Case Report: A 2 day old infant was referred with recurrent hypoglycaemia and high intravenous glucose requirement [>12 mg/kg/min]. He ...

Key-words: Type 1 diabetes - growth abnormalitiesIntroduction: Autoimmune type 1 diabetes is the most common endocrine disease in children. Like any other chronic disease, it can affect their growth. The aim of our work was to describe the different growth abnormalities observed in type 1 diabetic patients followed-up in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in the easte...

Like many other parts of the world the incidence of type 1 diabetes is increasing in Sudan leading to the double load of communicable and noncommunicable diseases. Many international guidelines for management of these cases have been published to help managing these children. In developing countries proper implementation of these guidelines is faced with difficulties due to lack of trained personnel, health care structure, accessibility to medical services, lack of facilities ...

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...