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...

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...

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 ...

hrp0092fc2.1 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Continued Improvement in Clinical Outcomes with Burosumab, a Fully Human Anti-FGF23 Monoclonal Antibody: Results from a 3-Year, Phase 2, Clinical Trial in Children with X-Linked Hypophosphatemia (XLH)

Linglart Agnès , Carpenter Thomas O. , Högler Wolfgang , Imel Erik A. , Portale Anthony A. , Boot Annemieke , Padidela Raja , Van't Hoff William , Mao Meng , Skrinar Alison , Scott Roberts Mary , San Martin Javier , Whyte Michael P.

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

hrp0092fc2.2 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Benefits of Long-Term Burosumab Persist in 11 Girls with X-Linked Hypophosphatemia (XLH) Who Transitioned into Adolescence During the Phase 2 CL201 Trial

Boot Annemieke , Carpenter Thomas O. , Högler Wolfgang , Imel Erik A. , Portale Anthony A. , Linglart Agnès , Padidela Raja , Van't Hoff William , Mao Meng , Skrinar Alison , Scott Roberts Mary , San Martin Javier , Whyte Michael P.

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we present data on 11/52 subjects (all girls) who developed fused growth plates during the phase 2 study CL201 (NCT02163577).In CL201, 52 subjects (Baseline: 5-12 years-old, Tanner ≤ 2) were randomized 1:1 to recei...

hrp0086fc2.6 | Bone & Mineral Metabolism | ESPE2016

Effect of KRN23, a Fully Human Anti-FGF23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (XLH): 40-week Interim Results from a Randomized, Open-label Phase 2 Study

Linglart Agnes , Carpenter Thomas , Imel Erik , Boot Annemieke , Hogler Wolfgang , Padidela Raja , van't Hoff William , Whyte Michael , Chen Chao-Yin , Skrinar Alison , Agarwal Sunil , Martin Javier San , Portale Anthony

Background: In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature.Objective and hypotheses: To evaluate KRN23 effects on serum phosphate (Pi) level and rickets severity in XLH children in a Phase 2 study.Method: 52 XLH children (ages 5–12 years, ≤Tanner 2) received KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum Pi was measured at 2-week intervals. KRN23 dose was titrated (maximum...

hrp0084p3-1085 | Perinatal | ESPE2015

Circadian Variation in Cortisol Concentration in Mother’s Milk

van der Voorn Bibian , Heijboer Annemieke , de Waard Marita , Verheijen Hester , Rotteveel Joost , Finken Martijn

Background: In mammals, maternal glucocorticoids are transmitted through breast milk, particularly under stressful circumstances. In humans, it is unclear whether milk cortisol levels are dependent on stressful perinatal circumstances, such as preterm birth.Objective and hypotheses: Our aim was to compare cortisol concentrations in breast milk of mothers of very preterm infants (GA <32 weeks) to breast milk cortisol concentrations of mothers of full-...