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 ( 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...

hrp0095fc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

First interim analysis of the International X-Linked Hypophosphataemia (XLH) Registry: Baseline characteristics of children treated with conventional therapy and burosumab

Boot Annemieke , Liu Jonathan , Williams Angela , Wood Sue

Objectives: X-linked hypophosphataemia (XLH) is a rare, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry (NCT03193476) (initiated in August 2017, target 1,200 children and adults with XLH, running for 10 years) will provide information on the natural history of XLH and impact of treatment on patient outcomes. This report summarises baseline data from the first interim analy...

hrp0082p2-d2-301 | Bone (1) | ESPE2014

Disproportionate Short Stature with Advanced Bone Age Due to PTHLH Mutation

Boot Annemieke , Stolte-Dijkstra Irene , Veenstra-Knol Irma

Background: Skeletal dysplasia is the main cause of disproportionate short stature. The severity may vary. The present patient had disproportionate short stature with brachydactyly.Patient and method: A boy of 5 years old presented with height 108.9 cm (−1.8 S.D.), sitting height/height ratio was +3.4 S.D., short hands and feet with short metacarpal 4 and metatarsal 4 on both sides. He had increased lumbar lordosis and...

hrp0094p2-449 | Thyroid | ESPE2021

Congenital multinodular goiter causing acute airway obstruction in a newborn: a case report

Mirjam Scheffer-Rath , Katharina Löhner , Nitash Zwaveling-Soonawala , Boot Annemieke

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

hrp0092rfc2.5 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Long Term Effects of Treatment with Oxandrolone (Ox) in Addition to Growth Hormone (GH) in Girls with Turner Syndrome (TS) on Bone Mineral Density in Adulthood

Breunis Leonieke , Boer Pieter , Freriks Kim , Menke Leonie , Boot Annemieke , Wit Jan Maarten , Otten Barto , Muinck Keizer-Schrama Sabine de , Hermus Ad , Timmers Henri , Sas Theo

Introduction: Ox in a dose of 0.03-0.05 mg/kg per day in addition to GH treatment significantly increases adult height in TS more than GH alone. To date, the long term effects of Ox in childhood on bone mineral density (BMD) in adulthood are unknown.Methods: This is a follow-up study of a previous randomized controlled trial, performed in the Netherlands. In the original trial, 133 girls were treated with GH. Placebo (Pl...

hrp0089fc2.1 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Burosumab, a Fully Human anti-FGF23 Monoclonal Antibody, for X-linked Hypophosphatemia (XLH): Sustained Improvement in two Phase 2 Trials in Affected Children 1–12 years old

Linglart Agnes , van't Hoff William , Whyte Michael P. , Imel Erik , Portale Anthony A. , Boot Annemieke , Hogler Wolfgang , Padidela Raja , Mao Meng , Skrinar Alison , Martin Javier San , Carpenter Thomas O.

In XLH, excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia and consequent rickets, skeletal deformities, and growth impairment. The efficacy and safety of burosumab, a fully human monoclonal antibody against FGF23, was evaluated in two Phase 2 trials in children with XLH. In CL201, 52 children with XLH (5–12 years old, Tanner ≤2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) weeks, with doses titrated up to 2 mg/kg to...

hrp0089p2-p040 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

X-linked Hypophosphatemia Registry – An International Prospective Patient Registry

Padidela Raja , Nilsson Ola , Linglart Agnes , Makitie Outi , Beck-Nielsen Signe , Ariceta Gema , Schnabel Dirk , Brandi Maria Luisa , Boot Annemieke , Jandhyala Ravi , Moeller Gerd , Levtchenko Elena , Mughal Zulf

Introduction: X-linked hypophosphatemia (XLH) is a rare, inherited disease that affects approximately 1 in 20,000 individuals. XLH is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Children with XLH experience abnormal bone development, rickets, osteomalacia, impaired growth, dental abscesses, craniosynostosis ...

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...

hrp0097p1-533 | 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 ( 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...