ESPE Abstracts

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

Background: Circadian disorganization of feeding behavior evoked by high fat diet (HFD) intake is suggested to be involved in the resulting weight gain and development of associated metabolic alterations and hypothalamic inflammation.Hypothesis: We hypothesized that this circadian alteration might be a consequence of rapid de-synchronization of different gene clusters relevant for metabolic control.Methods: We analyzed the circadia...

Introduction: Bilateral adrenal hemorrhage is a rare pathology, contrary to what happens with unilateral ones. It is more common in newborns and associated with situations of perinatal hypoxia, sepsis, traumatic births, or coagulation abnormalities. The classic triad includes jaundice, anemia, and a flank mass, which can lead to severe shock. Extensive bilateral hemorrhage is required to produce a situation of adrenal insufficiency. The diagnosis is made by im...

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

Nowadays, after decades of continuously rising rates of paediatric obesity across the world, insulin resistance (IR) in children and adolescents has become a prominent health issue.Obesity is recognised to be the most prevalent pathological cause of IR. However, corticosteroids or growth hormone therapy, genetic diseases and physiological conditions, such as puberty and pregnancy, may affect insulin sensitivity (IS) lifelong.Early ...

Background and Aims: The treatment of type 1 diabetes (T1D) requires a great involvement of the patient to achieve optimal blood glucose levels. Technological devices have been developed for individualized treatment, fewer interventions of the patient, and evidence of improved metabolic control. The aim of the study is to know data on metabolic control in a group of pediatric patients with T1D treated with new technologies, compared to patients treated with mu...

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

Introduction: To optimal glycemic control without hypoglycemia must be the aim of insulin treatment for all patients with type 1 diabetes (T1DM). Despite the advantages of the basal-bolus insulin regimens with MDI, hypoglycemia presents a major barrier in achieving desirable blood glucose levels. Degludec is a new basal insulin analog with longer half-life and lower variability.Objetive: To investigate the differences between long-acting insulins glargin...

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...