hrp0089p1-p115 | Fat, Metabolism and Obesity P1 | ESPE2018

Greater Maternal BMI Early in Pregnancy and Excessive Gestational Weight Gain are Independently Associated with Adverse Health Outcomes in the Offspring at Age 7 Years

Derraik Jose G B , Chiavaroli Valentina , A Hopkins Sarah , Biggs Janene B , Rodrigues Raquel O , Seneviratne Sumudu N , McCowan Lesley M E , Cutfield Wayne S , Hofman Paul L

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0097p1-533 | Multisystem Endocrine Disorders | ESPE2023

Utilizing ESPE e-learning to educate Pediatric Endocrinologists in Indonesia: Web-Series on Pediatric Endocrinology and Diabetes (WeSPED), an initiative of the European Society for Paediatric Endocrinology (ESPE) e-learning committee and the Indonesian Pediatric Society (Ikatan Dokter Anak Indonesia-IDAI).

Utari Agustini , Kalaitzoglou Evangelia , May Ng Sze , van Winjgaard-deVugt Conny , Faizi Muhammad , B. Pulungan Aman , M Boot Annemieke , Drop Stenvert

Introduction: The ESPE e-learning web-portal (www.espe-elearning.org) was developed to address gaps in education in pediatric endocrinology and diabetes and was first published online in 2012. Since then, it has been utilized in different settings and applications. Here, we present its utilization in a series of e-learning and e-consultation webinars in collaboration with the Indonesian Pediatric Society (IDAI- Ikatan Dokter Anak Indonesia).<p class="abste...

hrp0094fc7.1 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

The Use Of e-REC For Capturing The Occurrence Of COVID-19 Infections In People With Rare Endocrine Conditions

Bryce Jillian , Di Guisto Vicki , Ali Salma R. , Alexandraki Krystallenia , Badiu Corin , Baronio Federico , Biermasz Nienke R. , Brandi Maria Luisa , Castinetti Frederic , Ceccato Filippo , Chifu Irina-Oana , Cools Martine , Danne Thomas , Druce Maralyn , Esposito Daniela , Falhammar Henrik , Fugazzola Laura , Gan Hoong-Wei , Giordano Roberta , Isidori Andrea M. , Johannsson Gudmundur , Karavitaki Niki , Linglart Agnes , Luger Anton , Maffei Pietro , Marazuela Monica , Jaksic Vladka Pandzic , Paschou Stavroula A. , Persani Luca , Domingo Manuel Puig , Reisch Nicole , Schalin-Jantti Camilla , Akker van den Erica L.T. , Vassiliadi Dimitra , Young Jacques , Appelman-Dijkstra Natasha , Grozinsky-Glasberg Simona , Pereira Alberto M. , Ahmed S. Faisal ,

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

hrp0097p1-332 | Multisystem Endocrine Disorders | ESPE2023

Results from learner’s feedback on the use of free, globally accessible CME-accredited e-learning modules in Paediatric Endocrinology and Diabetes

Idkowiak Jan , van Wijngaard-deVugt Conny , van der Zwan Yvonne , Abu-Libdeh Abdulsalam , Kalaitzoglou Evangelia , Karabouta Zacharoula , Drop Sten , M Boot Annemieke , May Ng Sze

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...

hrp0097p1-307 | Growth and Syndromes | ESPE2023

A unique combination of Klinefelter syndrome and Three M Syndrome in a boy with short stature

Lee Mi-Seon , Lee Rosie , Lee Sang-Eun , Kwak Na-eun , Kwon Soon-Hak , Moon Jung-Eun

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

hrp0084fc11.4 | Neuroendocrinology | ESPE2015

Idiopathic Multiple Pituitary Hormone Deficiency (IMPHD): Radiological and Perinatal Factors

Ginige Nimasari , Kirk Jeremy M W , MacPherson Lesley K R

Background: Most cases of multiple pituitary hormone deficiency (MPHD) are acquired and genetic aetiology is rare in the UK. We have investigated whether environmental factors are implicated in ‘idiopathic’ MPHD (IMPHD).Objective and hypotheses: In IMPHD to determine perinatal risk factors and radiological features; to identify the regional epidemiology.Method: Systematic analysis of paediatric IMPHD cases in the UK West ...

hrp0082p2-d2-338 | Diabetes (1) | ESPE2014

Urinary Vitamin E Metabolites as a Biomarker of Oxidative Stress in Type 1 Diabetes

Bulwer Chloe , Hindmarsh Peter , Pope Simon , Tollerfield Sally , Sirka Ernestas , Mills Kevin

Background: Oxidative stress has been implicated in the development and progression of complications in type 1 diabetes (T1DM). Vitamin E (α-tocopherol) undergoes β-oxidation of its chomanol ring and the resulting metabolite α-TLHQ has been proposed as a potential biomarker of oxidative stress. HbA1c relates in T1DM to microvascular complications predominantly although the end-points are late in disease development. The oxidative stress process may act independe...

hrp0092ss1.1 | (1) | ESPE2019

E-Learning in Paediatric Endocrinology and Diabetes in Resource Limited Countries (RLC)

Boot Annemieke

The structure and design of the ESPE web portal (www.espe-elearning.org) is based on facilitating Problem-Based Learning (PBL). It consists of carefully designed problems that challenge medical students, residents, postdoc’s to use problem solving techniques, self-directed learning strategies and specialty knowledge.The ESPE e-learning web portal is an interactive learning environment for up to date topics in pediatric endocrinology and diabetes co...

hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...