ESPE Abstracts

Introduction: Focal disease of the pancreas causing hyperinsulinism (FHI) has 2 essential characteristics 1) the inheritance of a paternally derived mutation in ABCC8 or KCNJ11 in conjunction with loss of a region of the maternal chromosome 11p13.1 and 2) the ability to be cured by resection of the focal lesion while sparing the majority of the pancreas. At the time of surgery the surgeon resects the focal lesion until clear margins are avail...

Background: Continuous Glucose Monitoring (CGMS) is a useful method to detect the variability of glucose fluctuations and offers the opportunity for better assessment of glucose homeostasis in TM patients and response to therapy.Objective and hypotheses: Does real-life monitoring of blood glucose add to the therapeutic approach to patients with TM who have glycemic abnormalities?Method: In two thalassemic adolescents with glycemic ...

Background: True diabetes insipidus (DI) is a rare disease in children, defined as the excretion of hypotonic urine and polydypsia, secondary to an absolute or relative deficiency of antidiuretic hormone arginine vasopressin (central DI) or a resistance to the action of this hormone (nephrogenic DI). To differentiate from primary polydypsia.Objective and hypotheses: We report the case of AM a 13 years old girl, with personal history of cholecystectomy at...

We report a girl born small for gestational age with a birth weight of 1970g. At the age of 2 years she developed marked dystrophy, height was -4.39 SDS and BMI was -3.1 SDS. Later she developed severe insulin restistance and hyperglycaemia due to compound heterozygous mutations in the insulin receptor gene: exon 16: c.2986A>G (paternal) and intron 9: c.2029+1G>T (maternal). Clinical findings included severe acanthosis nigricans, mild hypertrophic cardiomyopathy, abnorma...

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...

Introduction: It is well known that thyroid disease (TD) is more prevalent in patients with Down Syndrome (DS). Among the dysfunctions are congenital hypothyroidism (CH), subclinical hypothyroidism (SC-H), Hashimoto’s thyroiditis (HT) and Graves’ disease (GD).The evaluation of the occurrence of these diseases in patients with DS according to age is still poorly reported.Objective: Verify the prevalence of TD in children and adolescents with DS ...

Background: Leptin is considered to play an important role in the development of hypertension in obesity. The excessive synthesis of aldosterone contributes to the development and progression of metabolic and cardiovascular dysfunctions. Leptin is a newly described regulator of aldosterone synthesis that acts directly on adrenal glomerulosa cells to increase CYP11B2 expression and enhance aldosterone production in human adrenal cells lines and in animal models.<p class="ab...

Background: The honeymoon period of type 1 diabetes mellitus (DM1) is characterized by reduced insulin requirements to <0.5 Units/kg per day while maintaining good glycaemic control.Case study: Seven years old boy who was diagnosed with type 1 diabetes mellitus presented with history of polyuria, polydipsia and weight loss for 3 weeks duration. His random Blood glucose=408 mg/dl with initial HBA1C 12.7%. Family history was unremarkable for diabetes ...

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

Background: Children with Asthma who do not respond to first-line therapy may need inhaled corticosteroid-long-acting beta agonist combination (ICS-LABA) therapy. Adrenal insufficiency (AI) due to adrenal suppression is a recognized but relatively uncommon side effect of ICS. An increase in suspected cases of AI associated with one particular ICS-LABA, mometasone-formoterol (Zenhale) was observed at a tertiary care Asthma clinic over a 6-month period.Obj...