hrp0098p2-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Kenny-caffey syndrome in the neonatal period

Eduarda Caseiro Alves M , Cadete Vitoria , Marques Filipa , Carneiro Rita , Farela Neves João , Galhardo Júlia

Introduction: Kenny-Caffey Syndrome Type 2 (KCS2) is a rare autosomal dominant genetic disorder caused by variants in the FAM111A gene, leading to cortical thickening and medullary stenosis of long bones. It is characterized by primary hypoparathyroidism, electrolyte disturbances, skeletal dysplasia with delayed closure of the anterior fontanelle, hypertelorism, and short stature. Intellectual development is normal.Case Report:</...

hrp0098p3-86 | Fat, Metabolism and Obesity | ESPE2024

Setmelanotide as treatment for obesity due to leptin receptor (LEPR) deficiency in a child under 6 years of age

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Alarcon Roldan Maria-Angeles , de la Camara Moraño Carmen

Introduction: LEPR regulates body mass via a negative feedback mechanism between adipose tissue and the hypothalamus. Leptin resistance is characterized by reduced satiety, over-consumption of nutrients, and increased total body mass. Often this leads to obesity, which reduces the effectiveness of using exogenous leptin as a therapeutic agent. Setmelanotide is an approved treatment for severe obesity due to LEPR in patients older than 6 years old.<p class=...

hrp0098p3-281 | Late Breaking | ESPE2024

Cleidocranial dysplasia associated with gh deficiency by auxological criterion: case report

Fernando Arrais Ricardo , Luiza Assunção Dantas Ana , Queiroz Dias do Nascimento Letícia , Saraiva Santos Silva Marina

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

hrp0095p1-597 | Thyroid | ESPE2022

Congenital hypothyroidism: outcome of a 26 year screening (1996-2021)

Svinarev Michail , Kurmacheva Nataliia , Gumeniuk Olga , Chernenkov Yuriy , Aranovich Vera

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

hrp0097p1-236 | Diabetes and Insulin | ESPE2023

The impact of covid-19 pandemic on the incidence type 1 diabetes in children

Kurmacheva Nataliia , Svinarev Michail , Chernenkov Yuriy , Gumeniuk Olga , Aranovich Vera

Viral infections may increase the risk of developing type 1 diabetes (T1D), and recent reports suggest that Coronavirus Disease 2019 (COVID-19) might have increased the incidence of pediatric T1D (M. Rahmati et al., 2022). In general, the course of viral infection in children is mild, the question of the long-term effects of COVID-19 on a child and adolescent, in particular, on pancreatic beta cells, remains unclear.Purpose: To ...

hrp0095p1-71 | Fat, Metabolism and Obesity | ESPE2022

Circulating mRNA and miRNA Signatures as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for molecular markers to predict outcomes of LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%) recruited to a prospective ‘multi-OMICS’ study granted by ESPE Research Unit, 159 subj...

hrp0092p1-53 | Fat, Metabolism and Obesity | ESPE2019

Age of Obesity Onset could be the First Indicator of Future Metabolic Complications – Preliminary Data of Prospective Multicenter Study

Gawlik Aneta , Wasniewska Malgorzata , Bereket Abdullah , Antosz Aleksandra , Aversa Tommaso , Corica Domenico , Kirkgoz Tarik , Turan Serap , Guran Tulay , Shmoish Michael , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze'ev

Context: The unified approach for obese children can result in therapeutic failure as obesity is a symptom of several conditions. It was previously suggested that only children with obesity onset beyond age 6 years will develop the metabolic syndrome and T2D. In turn, early childhood obesity carries a few times less risk of adult obesity comparing to that with the onset during juvenility.Aim: We determine the clinical an...

hrp0094p2-196 | Fat, metabolism and obesity | ESPE2021

Machine Learning Quest for Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze’ev ,

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

hrp0082p1-d1-65 | Diabetes | ESPE2014

Glycaemic Control and Acute Complications in European Children, Adolescents, and Young Adults With Type 1 Diabetes in the Teens Study

Phillip Moshe , Laffel Lori , Domenger Catherine , Dain Marie-Paule , Pilorget Valerie , Candelas Christophe , Danne Thomas , Mazza Carmen , Anderson Barbara , Hanas Ragnar , Waldron Sheridan , Beck Roy , Mathieu Chantal

Aims: The TEENs study is an international, cross-sectional observational study aiming to assess type 1 diabetes (T1D) management and psychosocial parameters in children, adolescents, and young adults, to identify approaches to optimise glycaemic control and outcomes. Results from 11 European countries are presented.Methods: 111 centres providing diabetes care to young T1D patients collected data by participant interview, medical record review and partici...

hrp0084ha1 | Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration | ESPE2015

Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration

Howard Sasha , Guasti Leonardo , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Sternberg Michael , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Andre Valentina , Gothilf Yoav , Cariboni Anna , Dunkel Leo

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...