hrp0095rfc11.3 | Late Breaking | ESPE2022

Predictors of kidney damage development in children with metabolically healthy and metabolically unhealthy obese phenotypes

Di Sessa Anna , Paride Passaro Antonio , Maria Colasante Alberto , Ferrara Serena , Rosaria Umano Giuseppina , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: A close association has been reported between obesity and renal damage in adults, but evidence in childhood is still limited.Methods: We retrospectively studied 396 children and adolescents with obesity. Clinical, biochemical, and instrumental evaluations were performed. Patients were stratified according to the metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) phenotypes. Kidney d...

hrp0084p2-481 | Growth | ESPE2015

Klinefelter Syndrome with Short Stature and Microcephaly: An Unusual Combination

Galo Blanca Lidia , Vargas Natalia , Clemente Maria , Vendrell Teresa , Plaja Alberto , Yeste Diego

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

hrp0084p3-1030 | Growth | ESPE2015

Sitting Height/Height Ratio: An Indicator for Genetic Study of the SHOX Gene in Children with Disharmonic Short Stature – An In-House Analysis

Yeste Diego , Dominguez Mildred , Campos Ariadna , Clemente Maria , Fernandez Paula , Plaja Alberto , Carrascosa Antonio

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

hrp0084p3-1237 | Turner | ESPE2015

Clinical Features and Genetic Considerations of Turner Syndrome: A Review of Our Cases

Berrade Sara , Chueca Maria , Zarikian Sada , Mosquera Arantxa , Ulibarrena Noelia , Sola Alberto , Garcia Cristina , Oyarzabal Mirentxu

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

hrp0097p2-115 | GH and IGFs | ESPE2023

Are there sex differences among patients to whom a growth hormone (GH) test with clonidina stimulus was required during the study of short stature?

Vela Amaya , GarcÍA Maria , Izquierdo Jon , Ugeso Alberto , Grau Gema , Rica Itxaso

Introduction: GH stimulus test is usually performed in pacientes With short stature and/or growth delayed study if GH deficit is suspected. Several articles concluded that male are more frequently diagnosed and treated of GH deficiency than femaleObjectives: To know gender's ratio and the possible anthropometric differences between patients that required a consult for short stature and to whom a stimulus test was pe...

hrp0082p2-d3-360 | Diabetes (2) | ESPE2014

‘My Diabetes’ Application for Android Devices as a Diabetes Management Tool

Ballester Maria Jose , Santillana Luis Alberto , Varvanov Rossen , Buch-Gasz Katarzyna , Gasz Adam , Sanchez Maria Jose , Lopez Carmen Maria , Martin Elena , Palomo Enrique

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

hrp0086s4.3 | New avenues in paediatric autoimmune disease | ESPE2016

Type 1 Diabetes: Lessons from nPOD Pathology and Clinical Trials

Pugliese Alberto

Type 1 diabetes (T1D) is considered chronic autoimmune disease in which autoreactive T-cells and inflammation cause severe loss of pancreatic beta cells. Insulitis, the pathologic hallmark of T1D, is an inflammatory lesion consisting of immune cell infiltrates around and within the islets. New research initiatives and methodologies are advancing our understanding of pancreas pathology. A major impetus to the field has been given by the institution of the JDRF nPOD (Network for...

hrp0086p1-p336 | Gonads & DSD P1 | ESPE2016

Polycystic Ovary Syndrome in Adolescence: New Therapeutic Approach with Inositol and Alpha-Lipoic Acid

Torge Nunzia , Iezzi Maria Laura , Varriale Gaia , Farello Giovanni , Basti Claudia , Zagaroli Luca , Lasorella Stefania , Verrotti Alberto

Background: Polycystic Ovary Syndrome (PCOS) is characterized by clinical and/or biochemical hyperandrogenism, oligo-anovulation and/or ultrasound finding of polycystic ovaries. Insulin-resistance represents the etiopathogenetic key of PCOS: a deficit of Inositol’s tissue availability seems to be responsible for this clinical picture. Hyperglycemia resulting insulin-resistance, determines a state of chronic inflammation, which increases oxidative stress.<p class="abst...

hrp0084p2-260 | Diabetes | ESPE2015

Adherence to Diabetes Care in Children and Adolescents with Type 1 Diabetes Mellitus in Spain: Results from the Chrystal Study

Siguero Juan Pedro Lopez , Vazquez Luis Alberto , Villoro Renata , Jiang Dingfeng , Merino Maria , Reviriego Jesus , Perez-Nieves Magaly

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

hrp0084p3-700 | Diabetes | ESPE2015

Health-Related Quality of Life in Children and Adolescents with Type 1 Diabetes Mellitus in Spain: Results From the CHRYSTAL Study

Vazquez Luis Alberto , Siguero Juan Pedro Lopez , Villoro Renata , Jiang Dingfeng , Merino Maria , Reviriego Jesus , Perez-Nieves Magaly

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...