hrp0086fc5.6 | Management of Disorders of Insulin Secretion | ESPE2016

Impact of Continuous Subcutaneous Insulin Infusion versus Multiple Daily Injections on Bone Health in Children and Adolescents with Type 1 Diabetes

Faienza Maria Felicia , Delvecchio Maurizio , Ventura Annamaria , Aceto Gabriella , Piacente Laura , Zecchino Clara , Colucci Silvia , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: Type 1 diabetes (T1DM) is associated with low bone mineral density (BMD) and bone alterations, probably due to lack of insulin and chronic hyperglycemia. Sclerostin and Dickkopfs-1 (DKK-1) are Wnt signaling inhibitors involved in bone remodelling.Objective and hypotheses: To assess serum levels of DKK-1 and sclerostin in T1DM children and adolescents on continuous subcutaneous insulin infusion (CSII) or multiple daily therapy (MDI). We hypoth...

hrp0084p1-34 | Diabetes | ESPE2015

Low Bone Mineral Density is Associated to Poor Glycemic Control and Increased Dickkopf-1 (DKK-1) Serum Levels in Children and Adolescents with Type 1 Diabetes

Faienza Maria Felicia , Delvecchio Maurizio , Fusillo Anna , Lonero Antonella , Zecchino Clara , Acquafredda Angelo , Piacente Laura , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: Decreased bone mineral density (BMD) and increased fracture risk have consistently been observed in type 1 diabetes mellitus (T1DM). The influence of T1DM on BMD seems to depend on gender or patient’s age and to occur early after T1DM diagnosis. The mechanisms of decreased BMD in T1DM patients are still unknown.Objective and hypotheses: To investigate the serum levels of dickkopf-1 (DKK-1), a Wnt signaling inhibitor which decreases bone ...

hrp0082p1-d2-120 | Fat Metabolism & Obesity (1) | ESPE2014

RANKL and Osteoprotegerin Serum Levels in Obese Children and Adolescents

Faienza Maria Felicia , Vulpi Maria Rosaria , Piacente Laura , Ventura Annamaria , Lonero Antonella , Luce Vincenza , De Palma Fabrizia , Acquafredda Angelo , Zecchino Clara , Minenna Antonio , Delvecchio Maurizio , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: There is growing evidence of a correlation between fat and bone metabolism at both the clinical and molecular levels, although the systemic regulators have not been clearly identified. The receptor activator of nuclear factor kB ligand (RANKL) and its soluble decoy receptor, osteoprotegerin (OPG), are involved in bone resorption and vascular calcification. OPG levels has been related with insulin resistance in adult obese subjects.Objective a...

hrp0082p2-d3-491 | Endocrine Oncology | ESPE2014

Autoimunne Thyroiditis in Type 1 Diabetes Mellitus Pediatric Population

Gomes Clara , Andrade Joana , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

hrp0082p3-d3-735 | Diabetes (2) | ESPE2014

Metabolic Control in a Pediatric Population with Type 1 Diabetes Mellitus

Andrade Joana , Gomes Clara , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in childhood and adolescence. Poor metabolic control is associated with numerous and onerous consequences. HbA1c levels are important in the assessment and monitoring of metabolic control in T1DM. Therefore, it is essential to know the causes of its variability.Objective and hypotheses: Determine the impact of age and time of disease in the value of HbA1c in children...

hrp0082p3-d3-753 | Diabetes (4) | ESPE2014

Type 1 Diabetes Mellitus in Pediatric Population: Chronic Complications and Associated Diseases

Andrade Joana , Gomes Clara , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Type 1 diabetes mellitus (T1DM) is the second most frequent chronic disease in childhood and adolescence. Chronic hyperglycemia is responsible for numerous long term complications, not only microvascular (retinopathy, nephropathy and neuropathy), but also macrovascular (ischemic cardiopathy, cerebrovascular disease and peripheral vascular disease). On the other hand, the T1DM immune modification is responsible for an increased incidence of other autoimmune diseases...

hrp0092p2-90 | Diabetes and Insulin | ESPE2019

Neonatal Diabetes in Two Siblings with Foxp3 Variant

Colombi Carolina , Tornese Virginia , Pott Godoy Clara , Peña Sonia , De Franco Elisa , Guntsche Zelmira

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

hrp0086lbp1 | (1) | ESPE2016

46,XY DSD due to Isolated AMH Deficiency Resulting in Persistent Müllerian Duct Syndrome (PMDS) as a Consequence of a Single-Base Deletion in a SF1-Response Element of the AMH promoter

Valeri Clara , di Clemente Nathalie , Marshall Ian , Schteingart Helena , Josso Nathalie , Rey Rodolfo , Picard Jean-Yves

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

hrp0082p1-d3-131 | Fat Metabolism & Obesity (2) | ESPE2014

Under-Diagnosed Beckwith–Wiedemann Syndrome Among Early-Onset Obese Children

Martos-Moreno Gabriel A , Serra-Juhe Clara , Perez-Jurado Luis A , Argente Jesus

Background: Beckwith–Wiedemann Syndrome (BWS) is a clinical and genetically heterogeneous entity encompassing overgrowth and variable manifestations. Early diagnosis of BWS is crucial due to the increased risk for developing embryonal malignancies (mainly below 5 years of age).Objective: We aimed to screen the presence of underdiagnosed BWS among ‘non-syndromic’ obese children.Method: We studied 159 children (95 male...

hrp0084p2-290 | Diabetes | ESPE2015

C-Peptide Variation after the Diagnosis of Type 1 Diabetes in Paediatric Age

Correia Joana , Mendes Catarina , Pinheiro Marina , Preto Clara , Cardoso Helena , Oliveira Maria Joao , Borges Teresa

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...