hrp0095lb12 | Late Breaking | ESPE2022

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Sousa Eulália , Luís Telma , Cristina Santos Ana , Lima Conceição , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

hrp0089rfc6.4 | Fat, Metabolism and Obesity | ESPE2018

Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor

Nunziata Adriana , Funcke Jan-Bernd , Borck Guntram , von Schnurbein Julia , Lennerz Belinda , Moepps Barbara , Gierschik Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...

hrp0082fc8.4 | Fat Metabolism | ESPE2014

CREB-Regulated Transcription Coactivator 3: a New Adipokine Related to Childhood Obesity

Prats-Puig Anna , Soriano-Rodriguez Pilar , Oliveras Gloria , Blancafort Adriana , Diaz-Roldan Ferran , Carreras-Badosa Gemma , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Puig Teresa , Lopez-Bermejo Abel

Background: CREB-regulated transcription coactivator 3 (CRTC3) is found in adipocytes where it may promote obesity through disruption of catecholamine signaling. CRTC3 knockout mice are resistant to diet-induced obesity.Objective and Hypotheses: The goals of the present study were i) to assess whether CRTC3 is a soluble protein secreted by adipose tissue ii) to explore whether CRTC3 is detectable and quantifiable in the circulation, and iii) to ...

hrp0082p3-d3-796 | Fat Metabolism & Obesity (2) | ESPE2014

Prevalence of Overweight and Obesity in Children and Adolescents at Public and Private Schools from Uberaba Brazil

Silva Adriana Paula , Feibelmann Taciana Carla Maia , Silva Daniela Cristina , Palhares Heloisa Marcelina Cunha , Scatena Lucia Marina , Borges Maria de Fatima

Background: In Brazil there is a nutritional transition between child malnutrition and increasing prevalence of obesity.Objective and hypotheses: The study aims to identify the prevalence of overweight and obesity in children aged 5–18 years in five private and 15 public schools from city of Uberaba Brazil.Method: Anthropometric data, inventorys physical activities and socioeconomic aspects were evaluated from 1125 individuals...

hrp0097p2-282 | Late Breaking | ESPE2023

Impact of COVID-19 pandemic on vitamin D status in a Portuguese pediatric population: a comparation of pre-pandemic and pandemic periods

Oliveira Mariana , Cláudia Moura Ana , Miguel Cláudia , Pinto Mariana , Barros Marta , Almeida Nuno , Arménia Campos Rosa , Luísa Leite Ana , Adriana Rangel Maria

Introduction: Vitamin D (VitD) is a prohormone that is synthesized in the skin after sun exposure. Mandatory lockdown during the COVID-19 Pandemic may have altered the sun exposure time of children.Aim: to evaluate vitD levels in a sample of children and adolescents, and compare between pre-pandemic and pandemic periods.Methoths Children and adolescents, from a Portuguese tertiary ...

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...

hrp0098p2-376 | Late Breaking | ESPE2024

Central Precocious Puberty and MKRN3 variants: new insights into the protein RING finger structure, and on protein ubiquitination and localization

Bencivenga Debora , Stampone Emanuela , Palumbo Stefania , Hafiz Ali Akbar , Cirillo Grazia , Aiello Francesca , Miraglia del Giudice Emanuele , Borriello Adriana , Grandone Anna

Background: MKRN3 (Makorin Ring Finger Protein 3) is a maternally imprinted intronless gene located in the Prader-Willi syndrome locus (chromosome 15q11.2-q13). It is recognized that MKRN3 loss-of-function mutations are the primary cause of familial central precocious puberty (CPP). The MKRN3 protein primarily acts as an E3 ubiquitin ligase, and its activity is essential for controlling the timing of puberty, functioning as a brake on gonadotropin-releasing ho...

hrp0089p3-p251 | Growth & Syndromes P3 | ESPE2018

Mosaicism 47XXX/45X0, a Case Report

Pinto Renata Machado , Duarte Sabrina Sara Moreira , Cunha Damiana Miriam da Cruz e , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da , Cruz Alex Silva da

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

hrp0095p1-93 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Measurements of Growth Hormone in neonatal screening cards as a non-invasive and feasible tool: reference values in healthy term newborns.

Giacchetti Federico , Vidali Matteo , Sangiorgio Andrea , Rodari Giulia , Vantaggiato Chiara , Modugno Adriana Di , Morniroli Daniela , Colombo Lorenzo , Profka Eriselda , Dall'Antonia Alberta , Collini Valentina , Ceriotti Ferruccio , Mosca Fabio , Arosio Maura , Lorella Giannì Maria , Giavoli Claudia

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

hrp0092p1-51 | Fat, Metabolism and Obesity | ESPE2019

Pathogenic Mutations and Variants in KSR2 in a Cohort of Obese Children

Körber Ingrid , Sowada Nadine , Schirmer Melanie , Herrmann Gloria , Nunziata Adriana , Bald Martin , Ehehalt Stefan , Paetow Ulrich , Ohlenschläger Ute , Rabenstein Hannah , Siebert Reiner , von Schnurbein Julia , Wabitsch Martin

Background: Kinase suppressor of Ras 2 (KSR2) gene codes for a scaffold protein modulating intracellular pathways that involve MEK/BRAF cascade and AMPK signaling. KSR2 plays an important role in energy balance regulation, and KSR2 mutations were reported to be associated with obesity and insulin resistance in mice and humans. In transfected cells, several KSR2 mutations lead to impaired fatty acid oxidation, which improved under met...