hrp0092p1-185 | Diabetes and Insulin (1) | ESPE2019

Endothelial and Heart Dysfunction in Children and Adolescents with Type 1 Diabetes

Predieri Barbara , Lami Francesca , Cenciarelli Valentina , Ciancia Silvia , Righi Beatrice , Madeo Simona F. , Bruzzi Patrizia , Prampolini Beatrice , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...

hrp0089p1-p024 | Adrenals and HPA Axis P1 | ESPE2018

Gonadotropin-Dependent Pubertal Disorders are Common in Patients with Virilizing Adrenocortical Tumors in Childhood

Stecchini Monica F , Braid Zilda , More Candy B , Aragon Davi C , Castro Margaret , Moreira Ayrton C , Antonini Sonir R

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

hrp0089p3-p404 | Adrenals and HPA Axis P3 | ESPE2018

Clinical and Biochemical Phenotype of Aldosterone Synthase Deficiency

Fortsch Katharina , Doing Carsten , Wudy Stefan A , Hartmann Michaela F , Martin Holterhus Paul , Mayatepek Ertan , Reinauer Christina , Meissner Thomas , Kummer Sebastian

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...

hrp0089p1-p065 | Diabetes & Insulin P1 | ESPE2018

Evaluation of Diabetes Related Complications and Endothelial Dysfunction in Adolescents with Type 1 Diabetes

Metwally Nehad , Macken Alan , O'Regan Myra , Fitzgerald Helen , McDonnell Ciara , O'Gorman Clodagh S , Molloy Eleanor , Roche Edna F

Introduction: Patients with type 1 diabetes (T1D) are at high risk of developing vascular complications. Endothelial dysfunction is considered the early reversible stage in the development of diabetes related vascular disease. Early detection and management of endothelial dysfunction can delay or even prevent the development of vascular complications.Aim: Endothelial dysfunction is associated with poor metabolic control in adolescents with T1D. Based on ...

hrp0086p1-p48 | Adrenal P1 | ESPE2016

Cardiac Function in Pediatric Patients with Congenital Adrenal Hyperplasia

Mooij Christiaan F. , Pourier Milanthy S. , Weijers Gert , de Korte Chris L. , Claahsen - van der Grinten Hedi L. , Kapusta Livia

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...

hrp0086p2-p493 | Fat Metabolism and Obesity P2 | ESPE2016

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

Tunc Selma , Demir Korcan , Tukun F Ajlan , Topal Cihan , Hazan Filiz , Saglam Burcu , Nalbantoglu Ozlem , Yildiz Melek , Ozkan Behzat

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

hrp0082p1-d3-88 | Diabetes (2) | ESPE2014

Improved Health-related Quality of Life with Insulin Therapy in Children with Cystic Fibrosis-related Diabetes: a Prospective Cohort Study

George Sherly , Hoey Hilary M C V , Costigan Colm , Murphy Nuala , Roche Edna F , O'Riordan Stephen M P

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...

hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

hrp0082p1-d2-156 | Growth (1) | ESPE2014

Gender Difference in Secular Trend in Sweden

Holmgren Anton , Niklasson Aimon , Nierop Andreas F M , Gelander Lars , Sjoberg Agneta , Aronson Stefan , Albertsson-Wikland Kerstin

Background, objective and hypotheses: By using QEPS, a new mathematic growth model, different components of growth can be analyzed, comparing secular trends of prepubertal and pubertal growth in Swedish birth cohorts born 1974 and 1990.Materials and methods: Two birth cohorts followed to adult height (AH) born around 1974 (1691 boys; 1666 girls) and 1990 (1647 boys; 1501 girls) being healthy, Nordic and born term. A subpopulation of 1974 (1177 boys; 1168...

hrp0082p3-d1-623 | Adrenals & HP Axis | ESPE2014

Pseudohypoaldosteronism Type 1: Role of Urinary Steroid Profiling in Specific and Early Diagnosis: Lessons in Differential Diagnosis of PHA1 vs PHA2 (Renal Tract Anomaly)

Abbot V , Ghataore L , Pieterse D J , Chapman S , Kapoor R R , Taylor N F , Buchanan C R

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...