hrp0084fc2.3 | Bone & Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

hrp0094p1-125 | Growth A | ESPE2021

PROPEL2: a phase 2, open-label, dose-escalation and dose-expansion study of infigratinib in children with achondroplasia (ACH)

Savarirayan Ravi , Arundel Paul , Bergua Josep Maria De , McDevitt Helen , Cormier-Daire Valerie , Saraff Vrinda , Skae Mars , Santos-Simarro Fernando , Salles Jean Pierre , Rossi Massimiliano , Kannu Peter , Bober Michael B. , III John Phillips , Saal Howard , Harmatz Paul , Meireles Ana Beleza , Cho Terry , Muslimova Elena , Weng Richard , Rogoff Daniela , Irving Melita ,

Background: ACH, the most common short-limbed skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Current treatment options are non-targeted, ineffective, or painful interventions aimed at preventing or treating complications. Infigratinib is an orally bioavailable and selective...

hrp0094p1-130 | Growth A | ESPE2021

Study design and baseline characteristics of children enrolled in PROPEL: A prospective clinical assessment study in children with achondroplasia (ACH)

Savarirayan Ravi , Bergua Josep Maria De , Arundel Paul , Salles Jean Pierre , Leiva Antonio , Saraff Vrinda , McDevitt Helen , Santos-Simarro Fernando , Cormier-Daire Valerie , Kannu Peter , Skae Mars , Bober Michael B. , III John Phillips , Burren Christine , Harmatz Paul , Saal Howard , Weng Richard , Muslimova Elena , Cho Terry , Rogoff Daniela , Irving Melita ,

Background: ACH is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. Children and adults with ACH have disproportionate short stature, with a final height of approx. 131 cm for males and 124 cm for females. People with ACH are prone to significant co-morbidities, including obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. In som...

hrp0097fc14.3 | Late Breaking | ESPE2023

Deconvolution Analysis: GH secretagogue (LUM-201) enhances growth in individuals with moderate idiopathic Pediatric Growth Hormone Deficiency (iPGHD) by enhancing endogenous GH secretion and increasing IGF-1

Cassorla MD Fernando , Román MD Rossana , Linn Johnson PhD Michael , Avila RN Alejandra , Iñiguez MD German , Baier MD Ingrid , Said RN Daniela , Bruchey PhD Aleksandra , Smith MS Christopher , L. Brinks PhD Erik , C. McKew PhD John , B. Karpf MD David , O. Thorner MD Michael , DSc MBBS

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

hrp0098p2-337 | Late Breaking | ESPE2024

Abetalipoproteinemia: a case report

Fernando Arrais Ricardo , A. C. M de Medeiros Iluska , M. C. Maia Jussara , Chrystian V. de Azevedo Jenner , Cássia Barrionuevo Jaim e Viviane , Barboza Beltrão Cristine , B. M. M. de Almeida Yngra , Fernandes da Cunha Camila , Madeira de Almeida Thalita , Adonícia Gurgel Martins Kerlândia , Digilio Vieira da Silva Leopoldo

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

hrp0095p1-556 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Surprisingly high frequency of pituitary stalk thickening in pediatric patients during COVID-19 pandemic in Chile.

Zepeda Diego , Peña Fernanda , Pablo Fernandez Jose , Okuma Cecilia , Naudy Cristian , J Guarda Francisco , Isabel Hernandez Maria

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

hrp0095p1-194 | Thyroid | ESPE2022

Response to initial treatment in a pediatric cohort of patients with papillary thyroid cancer (PTC): changes after 3 years of follow up

Papendieck Patricia , Eugenia Masnata Maria , Gabriela Ballerini Maria , Medin Martin , Elias Eugenia , Mateos Fernanda , Bergada Ignacio , Elena Chiesa Ana

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

hrp0095p2-304 | Late Breaking | ESPE2022

Diabetic ketoacidosis associated with hypertriglyceridemia in the pediatric age group – A case report

Zorron Mariana , Duarte Gomes Machado Raquel , Albiero Camargo Daniela , Seben Julia , Fernanda Vanti Macedo Paulino Maria , Mendonça Erika , Fanger Vanessa

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

hrp0092p1-228 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Broadening of the Phenotypic Spectrum of Coats Plus Syndrome: A Patient Presenting with Extreme Short Stature as a Hallmark Feature

Riquelme Joel , Mericq Veronica , Pena Fernanda , Boogaard Merel W. , van Dijk Tessa , van Duyvenvoorde Hermine A. , Wit Jan-Maarten , Losekoot Monique

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

hrp0082p2-d2-300 | Bone (1) | ESPE2014

Vitamin D Levels in Children, Adolescents, and Young Adults with Juvenile onset Systemic Lupus Erythematosus: a Cross-sectional Study

Stagi Stefano , Capirchio Laura , Bertini Federico , Menchini Camilla , Scalini Perla , Seminara Salvatore , de Martino Maurizio , Falcini Fernanda

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...