hrp0086p1-p926 | Thyroid P1 | ESPE2016

Minimally Invasive Video-Assisted Thyroid Surgery in Children: A Single Center Ten-Years Experience

Ferro Giusy , Martini Ludovica , Ferroli Barbara Baldini , Benevento Danila , Ubertini Graziamaria , Cappa Marco , Lombardi Celestino Pio , Grossi Armando

Background: Improved tools for diagnosis, a higher malignancy risk in thyroid nodules and the referral to surgery in Grave’s disease when medication fails, have lead to increased thyroidectomies in children.Objective and hypotheses: The aim of our study was to evaluate thyroid surgery outcomes and the presence of transient or permanent complications, in a cohort of children who underwent surgery, with the same surgical team, in the last 10 years.</p...

hrp0082p2-d3-346 | Diabetes (2) | ESPE2014

Two Cases of ‘Unknown’ Lipoprotein Lipase Deficiency and Diabetes Mellitus

Bizzarri Carla , Ciccone Sara , Pedicelli Stefania , Benevento Danila , Baldari Francesca , Patera Ippolita Patrizia , Matteoli Maria Cristina , Cappa Marco

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

hrp0095p1-73 | Fat, Metabolism and Obesity | ESPE2022

Glucose alterations, insulin resistance, hypertension, and activation of the renin-aldosterone system are strictly associated in pediatric obesity

Antoniotti Valentina , Amore Martina , Bellone Simonetta , Ricotti Roberta , De Grandi Roberta , Caputo Marina , Spadaccini Daniele , Mancioppi Valentina , Aimaretti Gianluca , Prodam Flavia

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...

hrp0086p2-p763 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Novel CHD7 Mutation in an Adolescent Presenting with Pubertal and Growth Delay

Antoniou Maria-Christina , Bouthors Therese , Xu Cheng , Phan-Hug Franziska , Elowe-Gruau Eglantine , Stoppa-Vaucher Sophie , Cassatella Daniele , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

hrp0086p1-p924 | Thyroid P1 | ESPE2016

In Children with Autoimmune Thyroid Diseases the Association with Down syndrome can Modify the Clustering of Extra-Thyroidal Autoimmune Disorders

Aversa Tommaso , Valenzise Mariella , Corrias Andrea , Salerno Mariacarolina , Iughetti Lorenzo , Tessaris Daniele , Capalbo Donatella , Predieri Barbara , De Luca Filippo , Wasniewska Malgorzata

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

hrp0082p1-d3-125 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Impairment of Adipose Tissue in Prader–Willi Syndrome Rescued by GH Treatment

Cadoudal Thomas , Diene Gwenaelle , Sengenes Coralie , Molinas Catherine , Desneulin Flavie , Eddiry Sanaa , Conte Auriol Francoise , Daviaud Daniele , Bouloumie Anne , Pierre Salles Jean , Valet Philippe , Tauber Maithe

Background: Prader–Willi syndrome (PWS) results from abnormalities in the genomic imprinting process leading to hypothalamic dysfunction with an alteration of GH secretion. PWS is associated with early morbid obesity and short stature which can be efficiently improved with GH treatment.Objective and hypotheses: Our aims were to highlight adipose tissue structural and functional impairments in young children with PWS and to study the effect of GH tre...

hrp0098p1-219 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Prospective longitudinal assessment of bone mineral density, circulating markers of bone turnover and changes in body composition in children and adolescents treated for acute lymphoblastic leukemia

Molinari Silvia , Laura Nicolosi Maria , Capitoli Giulia , Tondelli Daniele , Corbetta Sabrina , Vai Silvia , Radaelli Silvia , Biondi Andrea , Adriana Cristina Balduzzi , Sala Alessandra , Cattoni Alessandro

Background: Acute lymphoblastic leukemia (ALL) is the most frequently reported cancer in paediatrics. Reduced bone mineral density (BMD) and increased risk of fractures have been well-documented in this population, but long-term longitudinal trendlines of BMD and data about the impact of bone turnover markers are still scarce. Additionally, changes in body composition have to be furtherly analysed among childhood ALL survivors.St...

hrp0092p1-422 | Thyroid (2) | ESPE2019

Prospective Evaluation of Autoimmune and Non-Autoimmune Subclinical Hypothyroidism in a Large Cohort of Children and Adolescents with Down Syndrome

Pepe Giorgia , Corica Domenico , De Sanctis Luisa , Salerno Mariacarolina , Felicia Faienza Maria , Tessaris Daniele , Tuli Gerdi , D'Acunzo Ida , Aversa Tommaso , Alibrandi Angela , De Luca Filippo , Wasniewska Malgorzata

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...

hrp0094p1-58 | Bone B | ESPE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , Wittenberghe Laetitia van , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe ,

Adeno-associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitatio...

hrp0097rfc1.4 | Adrenals and HPA Axis | ESPE2023

Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT mutations

Francisco Annelise , Mine Yilmaz Goler Ayse , Daniele Carvalho Navarro Claudia , Onder Asan , Yildiz Melek , Kendir Demirkol Yasemin , Karademir Yilmaz Betul , Seven Menevse Tuba , Guran Tulay , Frigério Castilho Roger

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...