ESPE Abstracts

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...

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns, in Algeria newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. We report the case of a girl of 12 years old reffered for a failure to thrive, speech deficit and persistant vomiting, On clinical examination her height was –3 SDs with a very delayed bone age and a BMI of 35kg/m2 associated with severe musculoskeletal deformities and cog...

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

Background: Maturity onset diabetes of the young 2 (MODY2) is phenotypically characterized by elevated fasting and post-prandial blood glucose (BG) levels and no diabetes auto-antibodies. Inheritance is autosomal dominant, and it is caused by variants in the glucokinase (GCK) gene with resetting of the pancreatic glucose sensor to a higher level. It is essential to detect MODY 2 patients as they do not require treatment.Objective...

XLH is a dominant disorder with a prevalence of approximately 1.7/100,000 children to 4.8/100,000 persons. PHEX, the gene responsible for XLH was identified on chromosome Xp22. It codes for a cell surface-bound protein-cleaving enzyme expressed predominantly in bone and teeth. The altered function of PHEX causes both the mineralization defect and the renal phenotypic abnormalities of XLH. Clinical manifestations of XLH occur most often around the age of walki...

The diagnosis of growth hormone deficiency (GHD) is primarily clinical and usually includes: short stature but virtually always growth failure, perhaps some physical findings that accompany syndromic causes, and alterations in body composition and in the regional distribution of body fat. Laboratory testing, whether static or dynamic, and medical imaging are mostly confirmatory to the clinical diagnosis. Biochemical laboratory testing for GH insufficiency is fraught with many ...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

Objective(s): To understand how plasma concentrations of pancreatic (glucagon, amylin, pancreatic polypeptide (PP), insulin) and gut hormones ‘incretins’ (Glucagon-like peptide 1 (GLP-1) and Glucose dependent insulinotropic peptide (GIP)) change in relation to fasting and feeding (different types of nutrients) in healthy and hyperinsulinaemic hypoglycaemia (HH) children of different ages.Methods: Plasma pancreatic and incretin hormone concentra...

Background: Diabetes mellitus is the second most common chronic disease of childhood. It requires appropriate management and follow up to reduce the complications. Type 1 diabetes mellitus (T1DM) is the most common type of diabetes that affects children. Most of the developed countries launched registries. In Iraq, there is no access to statistics or national report about the provided service. Rather, there is no standardization of the practice.<p class="a...

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...