hrp0097p1-507 | Growth and Syndromes | ESPE2023

Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

Vickram Maharaj Avinaash , Cottrell Emily , Thanasupawat Thatchawan , D. Joustra Sjoerd , Triggs-Raine Barbara , Fujimoto Masanobu , G. Kant Sarina , van der Kaay Danielle , Clement-de Boers Agnes , Brooks A.S. , Amador Aguirre Gabriel , Martín del Estal Irene , Inmaculada Castilla de Cortázar Larrea María , Massoud Ahmed , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

hrp0082p2-d2-304 | Bone (1) | ESPE2014

Age-and Gender-Specific Reference Values of Bone Mineral Density in Korean Adolescents and Young Adults

Hye Kim Shin , Jung Park Mi , Hee Kim Duk

Background: Low bone mass during growth may increase risk of fracture. Adequate reference data for bone mineral density (BMD) are needed to identify adolescents with bone deficit.Objective and hypotheses: We aimed to provide normative values and reference curves for BMD in Korean adolescents and young adults.Method: Using the data from Korean Nutrition Health and Nutrition Examination Survey (KNHANES) in 2008–2011, a total of ...

hrp0089fc12.3 | Diabetes and Insulin 2 | ESPE2018

Impact of Insulin Sensitivity and β-cell Function on the Development of Impaired Glucose Tolerance (IGT) in Obese European Children and Adolescents

Denzer Christian , Vogt Josef , Kohlsdorf Katja , von Schnurbein Julia , Wabitsch Martin

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

hrp0095p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Predictors of surgical outcomes in boys with hypospadias

Scougall Kathryn , Bryce Jillian , Baronio Federico , L Boal Rachel , Castera Roberto , Castro Sebastián , Cheetham Tim , Correa Costa Eduardo , Darendeliler Feyza , Davies Justin , Dirlewanger Mirjam , Gazdagh Gabriella , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Herrmann Gloria , Holterhus Paul-Martin , Karagözlü Akgül Ahsen , Markosyan Renata , Nordenstrom Anna , McElreavey Kenneth , Lopes Miranda Marcio , Poyrazoglu Sukran , Russo Gianni , Schwitzgebel Valerie , Steigert Michael , Faisal Ahmed S. , K Lucas-Herald Angela

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

hrp0095p1-324 | Growth and Syndromes | ESPE2022

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

hrp0095p1-523 | Growth and Syndromes | ESPE2022

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

hrp0082p3-d3-687 | Bone (2) | ESPE2014

Endocrinological Assessment of Children with Bronchiectasis

Ozgen Ilker Tolga , Cakir Erkan , Gedik Hakan , Gokce Selim , Atilla Nursoy Mustafa , Cesur Yasar

Background: Bronchiectasis is a result of recurrent pulmonary infections and chronic inflammation.Objective and hypotheses: Chronic inflammation may lead some endocrinological disorders. The consequences of the bronchiectasis on the endocrinological system and on the bone health in childhood were investigated in this study.Method: The medical records of the 64 children with bronchiectasis (32 females and 32 males) at the mean age o...

hrp0094p2-190 | Fat, metabolism and obesity | ESPE2021

Evaluation of the nutritional behavior of small and large for gestational age children

Prylutskaya Veranika , Solntsava Anzhalika , Dashkevich Helena , Sukalo Alexander , Shyshko Julia ,

Background: In recent years a special interest of researchers is focused on questions related to the early stages of the formation of food behavior (FB), considering their close connection with socially significant problems of the present - obesity, metabolic syndrome, cardiovascular pathology, etc.Aims: To assess the characteristics of the childrenÂ’ nutritional behavior, taking into account the level of physical development at birt...

hrp0097p1-63 | Fat, Metabolism and Obesity | ESPE2023

The effectiveness of novel E-Health applications for the management of obesity in childhood and adolescence during the COVID-19 outbreak in Greece

Ramouzi Eleni , Koutaki Diamanto , Paltoglou Georgios , Tragomalou Athanasia , Vourdoumpa Aikaterini , Manou Maria , Kassari Penio , Tzounakou Anastasia , Charmandari Evangelia

Background: The prevalence of childhood obesity has recently increased, particularly during the COVID-19 pandemic, which has led to lifestyle changes as a result of public health regulations and guidelines introduced by governments worldwide.Objective: To investigate the effectiveness of novel e-Health applications in addressing childhood obesity prior to and during the Covid-19 outbreak.Pa...

hrp0095p1-133 | Growth and Syndromes | ESPE2022

Postnatal growth of infants born < 2.5 kg: small for gestational age (SGA) vs appropriate for gestational age (AGA)

Alyafei Fawzia , Soliman Ashraf , AlYousef Doaa , Shaat Mona , Itani Maya , Ali Hamdy , Alaaraj Nada , Hamed Noor , Ahmed Shayma

We studied anthropometric measures (z scores) from birth to 2 years in 115 infants who were born with birth weight <2.5 kg but > 1.5 kg. They were divided into two groups based on Fenton's preterm growth standards at birth. Group 1 (AGA) with weight z score (WAZ) > -2 (n = 100), and group 2 (SGA) with WAZ < -2 (n = 15). Postnatal growth data were evaluated based on the WHO growth standard without correction for prematurity.<p class="abste...