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-...

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:...

hrp0097p1-562 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Concurrent premature gonadotrophic activation and gonadal insufficiency in young girls with a brain tumor

Evelein Annemieke , Schouten - Van Meeteren Netteke , Bakker Boudewijn , Gidding Corrie , Van der Wetering Marianne , Van Santen Hanneke

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...

hrp0095p2-153 | GH and IGFs | ESPE2022

Avascular necrosis of the hip as a rare complication of growth hormone therapy

van der Linde Annelieke , van Baelen Amber , van Bergen Christiaan

Background: Growth hormone therapy can be indicated for children who are born small for gestation age (SGA) (either birth weight or birth height < -2 SDS) without catch-up growth (height < -2.5 SDS) at age 4 years. Growth hormone therapy is considered a safe treatment.Case presentation: A 12-year-old girl was referred to the pediatric endocrinologist for short stature. She was born small for gestational age (birth ...

hrp0092p1-92 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Rare Case of Pseudoisodicentric X Chromosome in a Patient with Primary Amenorrhoea

Schipper Saskia , Aarts Coranne , van der Linde Annelieke

Background: Pseudoisodicentric X chromosomes with an Xq deletion (46,X,idic(Xq)) are rare. Most cases are mosaic, the other cell line being 45,X. Nonmosaicism is rare. Phenotype is characterized by the resultant of the X deletion. Variations from short to tall stature can occur and premature ovarian failure is a common feature.Case presentation: A 16 year old girl was referred to our clinic with primary amenorrhoea. She ...

hrp0092lb-12 | Late Breaking Posters | ESPE2019

Thyroid Function in Neonates Conceived After Hysterosalpingography with Iodinated Contrast Media

Van Welie Nienke , Portela Maite , Roest Inez , van Rijswijk Joukje , Verhoeve Harold , Hoek Annemieke , Bourdrez Petra , de Bruin Jan Peter , Nap Annemiek , Goddijn Mariette , Hooker Angelo , van Heteren Cathelijne , Koks Carolien , Lambalk Cornelis , Dreyer Kim , Willem Mol Ben , Finken Martijn , Mijatovic Velja

Objective: Hysterosalpingography (HSG) to assess patency of the Fallopian tubes with the use of iodinated (oil- or water-based) contrast media is a standard test during fertility work-up. An observational study found an increased risk of congenital hypothyroidism in neonates whose mothers were exposed to high amounts of oil-based contrast during HSG. Oil-based contrast contains more iodine (480mg Iodine/ml) than water-based contrast (250mg Iodine/ml). We inves...

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 &amp; 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 &amp; 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 ...