hrp0084p2-517 | Pituitary | ESPE2015

Be Aware of Congenital Panhypopituitarism in Children with a Family History of Polydactyly

Hovinga Idske Kremer , Giltay Jacques , van der Kamp Hetty

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...

hrp0084p3-923 | GH & IGF | ESPE2015

IGFI and Relation to Growth in Infancy and Early Childhood in Very-Low-Birth-Weight Infants and Term Appropriate for Gestational Age Infants

Jong Miranda de , Cranendonk Anneke , van Weissenbruch Mirjam M.

Background: IGFI regulates early postnatal growth of preterm infants and also plays an important role in growth in childhood. Very-low-birth-weight (VLBW) infants are at risk for reduced growth in early childhood.Objective and hypotheses: To compare IGFI and the correlation to growth parameters in infancy and early childhood in VLBW and term appropriate for gestational age (AGA) infants.Method: We included 41 VLBW children and 64 t...

hrp0094fc2.5 | Fat, Metabolism and Obesity | ESPE2021

Reference values for longitudinal body composition in children aged 0-5 years, using Dual-energy X-ray (DXA) absorptiometry

van Beijsterveldt Inge , de Fluiter Kirsten , Hokken-Koelega Anita ,

Background and Objectives: Childhood obesity is a global public health threat, with an alarming rise in incidence. Obesity at young age has short-term consequences, as well as long-term morbidity. It is, therefore, important to determine body composition longitudinal throughout infancy and childhood to prevent excess adiposity. Multiple methods are used to determine body composition in infants and young children, but none are described as suitable for longitud...

hrp0094fc9.2 | Growth Hormone and IGFs | ESPE2021

A simple model with height and age at start of treatment with recombinant human growth hormone can accurately predict future growth in children with growth disorders

van Dommelen Paula , Arnaud Lilian , Masne Quentin Le , Koledova Ekaterina ,

Background: A growth prediction model would not only allow patients with growth disorders the opportunity to see the expected effect of their recombinant human growth hormone (r hGH) treatment, but also support healthcare professionals to individualise treatment to optimise growth outcomes.Aim: To develop a growth prediction model in children with growth disorders.Patients and Methods: Height and c...

hrp0094p2-435 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two pedigrees with congenital bilateral anorchia in one sibling and testicular torsion at adolescence in another: a shared genetic predisposition?

Brachet Cécile , Chiniara Lyne , Vliet Guy Van

Background: In bilateral anorchia or vanishing testes syndrome, testicular function is normal during the embryonic period, as shown by the absence of Müllerian remnants and of hypospadias. Although normally differentiated, the penis may be small due to decreased testosterone secretion during the fetal period. In a normally virilised boy with non-palpable testes, with or without micropenis, the diagnosis is established by undetectable plasma anti-Müllerian hormone (AM...

hrp0097p1-290 | GH and IGFs | ESPE2023

Optimal injection device settings to achieve high adherence to growth hormone treatment in patients with growth disorders

van Dommelen Paula , Arnaud Lilian , Zucchiatti Chantal , Koledova Ekaterina

Background: Treatment for growth disorders requires daily injections of recombinant human growth hormone (r-hGH) over multiple years, and automated devices may help in this regard. The ability to adjust injection device settings, which are pre-set as default unless changed by healthcare professionals, may improve patient comfort and needle anxiety and thereby improve adherence.Aim: To study the association between inject...

hrp0098fc1.4 | Diabetes and Insulin | ESPE2024

A personalized approach to classify the degree of liver insulin resistance in children with obesity

Tans Roel , Schipper Anoeska , Kusters Ron , van Mil Edgar

Introduction: Obesity is associated with an increased risk of developing several metabolic disorders, such as type 2 diabetes. The Children’s Lifestyle Medicine Centre at the Jeroen Bosch Hospital is a national reference center for the personalized treatment of children (aged 5-18 years) with severe obesity. As part of this personalized program, patients undergo an extensive oral glucose tolerance test (OGTT), in which both glucose and insulin levels are...

hrp0098fc4.5 | Adrenals and HPA Axis 1 | ESPE2024

3D printed, personalized hydrocortisone for hypocortisolemia.

Ayyoubi Sejad , van den Akker Erica , Feelders Richard , Ruijgrok Liesbeth

Introduction: The current standard of care (SOC) for adrenal insufficiency (AI) is suboptimal due to fluctuating cortisol plasma concentrations. The sub- and supraphysiological cortisol levels, combined with the multi-day tablet intake, are associated with negative health outcomes and a poor quality of life. Furthermore, there is a high interindividual difference in the cortisol need, demanding a personalized approach. Pharmaceutical 3D printing (3DP) allows f...

hrp0098p1-223 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Determinants of bone mineral density in healthy term-born children at age 6 months

Dorrepaal Demi , van Beijsterveldt Inge , de Fluiter Kirsten , Hokken Anita

Background and aims: Insight into which determinants associate with bone mineral density (BMD) is needed for targeted therapy in children with a low BMD for chronological age but also for preventive treatment on population level. Currently, studies investigating determinants of BMD in children aged <4 years are scarce. The primary aim of our study was to assess which determinants associate with BMD total body less head (BMDTBLH) at around age 6 m...

hrp0098p3-176 | Growth and Syndromes | ESPE2024

Evaluation of an infant formula with large, milk phospholipid-coated lipid droplets on long-term growth and adiposity: the saturn study design

Dorrepaal Demi , van Beijsterveldt Inge , Abrahamse-Berkeveld Marieke , Hokken Anita

Background and aims: Breastfeeding is associated with different adiposity development in infants and a reduced overweight risk. Human milk contains large lipid globules with a native membrane rich in phospholipids, whereas lipid droplets in most conventional infant formulas (IF) are small and protein-coated. Our study aims to evaluate the impact of a Concept IF with large, milk phospholipid-coated lipid droplets, closer to human milk lipid globule characterist...