ESPE Abstracts

Acanthosis nigricans is a common skin presentation of insulin resistance. We may observe different forms of its sevirity. Pathogenesis of this disorder is correlated with an action of insulin to keratinocyte and dermal fibroblasts via interaction with IGFR1.We'd like to present a medical history of two patients admitted to our clinic because of severe acanthosis nigricans. Boys were at the age of 13 and 14 years. We diagnosed carbohydrate metabolism ...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Objectives: To demographic, socio-economic and social changes in the population of children who debuted in this century with DM type 1aPatients and Methods: Study patients with Type 1 Diabetes Mellitus from January 2000 to the present. Longitudinal study of global epidemiological, social, demographic and clinical variables and by five-year periods, focusing on the latte at Basque CountryRes...

It is known that a larger number of blood glucose control, glycemic control of patients with type 1 Dm suffers improvement. Likewise, the presence of hypoglycaemias maintained, especially at night and in school-age patients, could have a significant influence on neurological aspects such as night rest, learning and memory. Improved technology has id allowed or development of control devices interstitial glucose, both blinded (retrospective) as erta abi (real time). The free FR...

Congenital hyperinsulinism (CHI) is a life-threatening disorder characterized by hypoglycemia due to dysregulated secretion of insulin from pancreatic β-cells. Genetic diagnosis is essential for patient management. NGS technologies give the ability to generate large amounts of sequence data in a relatively short amount of time. We report next generation sequencing (NGS) results in 142 patients (66 boys, 76 girls) with CHI seen at Endocrine Research Centre (Moscow...

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...

Introduction: The MODY diabetes (Maturity Onset Diabetes of the Young) belongs to monogenic alterations group, the mutation of the gene HNF-1α is the most common and present an autosomal dominant inheritance that causes dysfunction of the Beta pancreatic cell and alteration in the reabsorption of glucose to renal level, with age of variable presentations, it often leads to a misdiagnosis as type 1 diabetes mellitus.Description of the clinical case: ...

Background: Obesity in childhood and adolescence represents a major health problem that reached epidemic proportions in the last decades. Obesity is characterized by an increase in the adipose tissue, which leads to chronic inflammation and release of adipokines, like Fibroblast Growth Factor 21 (FGF21). On the other hand, intense exercise results in decreased adipose tissue, which leads to the release of proteins, the myokines, like irisin. In obesity a resistance in FGF21 an...

Introduction: Hepatic steatosis(HS) is a frequent finding in obese children. Insulin resistance, hypertriglyceridemia and abdominal circumference (AC) are known risk factors, similar to Metabolic Syndrome (MS), but the precise pathophysyology remains unexplained.Objectives: To analyze the prevalence of HS as identified by ultrasound as well as acanthosis Nigricans (AN) in two groups of obese patients; with or without presence of MS; by studying anthropom...

Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. Approximately 50% of patients with BWS develop congenital hyperinsulinism (CHI). In this report, we describe the main clinical features in a group of patients with BWS and CHI.Study: Clinical and laboratory data was collected from all patients with BWS under the care of endocrine units at Alder Hey Children’s Hospital (Liverpool, UK) and Endocrine Research Centre (...