ESPE Abstracts

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: 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...

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a are autosomal recessive disorder which presents in early infancy with generalized convulsions, or other symptoms related to increased neuromuscular excitability. Several mutations in the TRPM6 gene have been described. Early diagnosis is an effective means of preventing the inevitable neurocognitive sequelae which occur in the absence of appropriate treatment.<s...

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophyseal system, for the children, germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopitui...

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...

Introduction: Differenciated thyroid cancer (DTC) is a rare disease in children and adolescents, it concerns approximatively 1.4% of all pediatric malignancies. Papillary thyroid carcinoma (PTC) is the most common subtype of DTC in pediatric as well as in adult with necessity of radio iodine therapy after surgery.Aim: The aim of our study is to evaluate follow up after iodine therapy in childhood patients treated for...

Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. Infants with NDM do not produce enough insulin, leading to hyperglycaemia. An identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell of the ATP sensitive potassium channel (KATP). The identification of KCNJ11 mutation has im...

Background: Childhood obesity is recognized as a chronic illness with limited therapeutic options. Addressing this condition through lifestyle interventions has proven to be challenging, particularly for adolescents, with only minimal outcomes observed. The use of GLP-1 agonists (such as Liraglutide) for reducing body weight in pediatric patients has yielded conflicting results. To date, no studies conducted in the Middle East have reported on the outcomes of ...