hrp0084p2-340 | Fat | ESPE2015

Prevalence of Scoliosis in a Large Cohort of Paediatric and Adolescent Prader–Willi Syndrome: A Scottish–Italian study

Ciccone Sara , Fintini Danilo , Kyriakou Andreas , Bocchini Sarah , Crostelli Marco , Read Heather , Donaldson Malcolm , Cappa Marco , Shaikh Guftar , Crino Antonino

Background: A variable prevalence of scoliosis has been reported in Prader–Willi syndrome (PWS). Clinical detection can be challenging. The role of GH therapy (GHT) in the onset and progression of scoliosis remains controversial as does the modality of screening.Objective and hypotheses: To define the prevalence of scoliosis in our PWS patients and analyse the role of age, gender, genotype, BMI, and GHT on its onset and severity.<p class="abstex...

hrp0084p2-473 | Growth | ESPE2015

The Pubertal Gain in Height is Inversely Related to BMI in Childhood

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

Background: Weight in childhood may influence the pubertal timing and pattern of growth.Objective: To investigate the impact of BMI in childhood on further growth, especially the specific pubertal pattern of growth.Method: The longitudinally followed GrowUpGothenburg1990 birth cohort, was analyzed using the QEPS growth model (Nierop et al. Horm Res in Ped. 2013; 80(suppl 1):152–153) (describi...

hrp0084p3-941 | GH &amp; IGF | ESPE2015

Decrease of Small Dense LDL and Lipoprotein-Associated Phospholipase A2 due to Human GH Treatment in Short Children with GH Deficiency and Small for Gestational Age Status

Krebs Andreas , Kratzin Thomas , Doerfer Jurgen , Winkler Karl , Wurm Michael , van der Werf-Grohmann Natascha , Krause Alexandra , Schwab Karl Otfried

Objectives: GH deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore investigated antiatherogenic effects of GH.Methods: Subfractions of LDL and HDL, lipoprotein-associated phospholipase A2 (Lp-PLA2), and high-sensitivity C-reactive protein (hsCRP) were measured at baseline, after 8 and 52 weeks of GH treatment in 51 short children born SGA (n=33) or with GHD (n=18).<p cla...

hrp0097rfc1.2 | Adrenals and HPA Axis | ESPE2023

The chimeric CYP21A1P/CYP21A2 and TNXA/TNXB gene deficiencies in patients with Congenital Adrenal Hyperplasia

Fanis Pavlos , Toumba Meropi , Katerina Chrysostomou Anna , Mousikou Maria , Nicolaou Stella , Kyriakou Andreas , Neocleous Vassos , A Phylactou Leonidas

Background: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder with more than 90% of cases caused by defects in the steroid-21 hydroxylase (CYP21A2) gene. Such defects are the main cause of 21-hydroxylase enzyme deficiency that affects the biosynthesis of cortisol and aldosterone. The CYP21A2 gene is part of the RCCX module, which is located on chromosome 6p21.3, in the major histocompatibility complex (MHC) class III reg...

hrp0095p2-89 | Diabetes and Insulin | ESPE2022

Design, certification and evaluation of an Insulin Infusion Therapy Care and Education Program (PAETII) in children/adolescents in a Pediatric Unit

J. Chueca Maria , Gabari Mercedes , Burillo Elisabeth , Berrade Sara , Herrero Sara , Francisco Laura , Lopez de Dicastillo Ana , Andres Carlos

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...

hrp0092p2-277 | Thyroid | ESPE2019

Congenital Hypothyroidism: Neonatal SCREENING PROGRAM with T4 and TSH

Chueca Maria J. , Moreno Paula , Dura Teodoro , Berrade Sara , Andres Carlos , Garcia Maria Dolores , Moreno Jose Carlos , Ascunce Nieves

Objectives: -To determine children diagnosed with central congenital hypothyroidism (CCH) by a screening program using TSH and total T4 between May 2016 and January 2019.-To analyze the characteristics of the disease in these children.Material and Methods: During the time of the study, 14.743 newborns have been screened. Cut-off points are used for TSH ≥10MU/ml and T4 6 and 20 mg/dl as lower ...

hrp0089p3-p084 | Diabetes &amp; Insulin P3 | ESPE2018

Diabetic Capilaropathy: A Case Report

Andres Carlos , Tabuenca Laura , Sanchez Idoia , Diaz Laura , Chueca Maria J , Berrade Sara , Dura Teodoro , Compains Esther

Uncontrolled diabetes mellitus is a disease with a wide range of systemic complications. Eye complications may seriously threaten quality of life. Diabetic retinopathy is the most frequent diabetic ocular complication. However, diabetic capilaropathy is a little known condition of diabetic retinopathy. It is an acute optic disc edema and/or macular edema; due to an acute hyperglycaemia.Method: We present a case of a diabetic 14-years-old female with diab...

hrp0086p2-p275 | Diabetes P2 | ESPE2016

Pancreatic Reserve and Metabolic Control of Type 1 Diabetes in a Cohort of Spanish Children and Adolescent

Laura Bertholt Zuber Maria , Cristina Luzuriaga Tomas Maria , Andres de Llano Jesus , Freijo Martin Concepcion , Naranjo Gonzalez Cristina

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

hrp0084p3-964 | GH &amp; IGF | ESPE2015

Evaluation of the Facility of Use of a New GH Administration Device – Study DAGH2014

Rivero-Martin Maria Jose , Ontanon-Nasarre Ana , Alcazar-Villar Maria Jose , Carrasco-Torrents America , Andres-Rosado Ana , Montes-Bentura David

Background: One of the limiting factors in adherence to GH therapy, is satisfaction with the administration device used.Objective and hypotheses: With the emergence of a new biosmiliar GH (BGH) administration device, we will assess the simplicity, ease of use, management and pain perceived by the patients.Method: Prospective through survey caregivers and children treated with BGH at least for 6 months. Signed informed consent was r...

hrp0094fc7.4 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Endocrine sequelae in 157 paediatric survivors of haematopoietic stem cell transplantation

Guemes Maria , Martin-Rivada Alvaro , Arribas Marta Bascuas , Andres Esteban Eva Maria , Angulo Blanca Molina , Argente Jesus ,

Introduction: As successful rates of haematopoietic stem cell transplantation (HSCT) are on the rise, late endocrine and metabolic effects of these survivors have become more prevalent.Aims: We aimed to characterise the endocrine abnormalities observed following HSCT.Subjects and methods: A retrospective descriptive study in paediatric post-HSCT patients (< 18 years-old) follow...