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...

hrp0095rfc10.5 | GH and IGFs | ESPE2022

Evaluation of health-related quality of life & problem behavior in adults born small for gestational age treated with growth hormone during childhood in comparison with untreated controls

Dorrepaal Demi , Wesley Goedegebuure , der Steen Manouk van , Anita Hokken-Koelega

Background: Being born small for gestational age (SGA) has been associated with a reduction in health-related quality of life (HRQoL) and more problem behaviour. Growth hormone (GH) treatment, which leads to a significant improvement in adult height (AH), improves HRQoL and decreases problem behavior in SGA children. However, such results are very limited in SGA adults who were treated with GH during childhood.Objective:...

hrp0097p1-510 | Growth and Syndromes | ESPE2023

Tuberous sclerosis complex 1 (TSC1) deficiency leads to increased proliferation of adipose progenitor cells – case report and in vitro studies

Garten Antje , Hentschel Julia , Richter Sandy , Kiep Henriette , Arelin Maria , Platzer Konrad , Merkenschlager Andreas , Kiess Wieland , Mayer Steffi , Abou Jamra Rami , Le Duc Diana , Gerthe Kerkhof , Anita Hokken-Koelega

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...