About our Department
Our research
Our department has special focus on the subjects of obesity, growth and Disorders of Sex Development. Our centers of expertise are:
- Obesity Center (in Dutch: Centrum Gezond Gewicht (CGG)).
- Genetic Obesity.
- Prader Willi Syndrome.
- Growth Disorders.
- Silver Russel Syndrome.
- Turner Syndrome.
- Disorders of Sex Development (DSD).
Obesity
The research line on obesity aims to improve diagnostic tools and shift treatment to more effective, personalized and value-based care for children with obesity. We do this through clinical, translational and basic research, with special focus on genetic obesity, Prader Willi (like) Syndrome and clinical trials.
Growth disorders
Our research line on growth disorders aims to improve diagnostics and treatment for children with growth disorders, with special focus on Silver Russel Syndrome.
Disorders of sex development (DSD)
The cause of DSD often remains unknown in many individuals, despite impressive progress in genetic research and other research. The research line on DSD therefore aims to improve the diagnostic yield. In addition, clinical studies aim to optimize treatment and monitoring for many forms of DSD and Turner syndrome.
Our research lines are embedded in national and international networks and consortia.
Principal Investigators
- Erica L.T van den Akker, MD, PhD, full professor.
- Gerthe Kerkhof, MD, PhD.
- Theo Sas, MD, PhD.
- Danielle van der Kaay, MD, PhD.
Research Lines
- Obesity
- Growth disorders
- Disorders of sex development.
Projects
Obesity Studies
- ObesECare
E-Tool towards optimizing tailored diagnostics and treatment in patients with obesity. Collaboration with TNO (the Netherlands Organisation for applied scientific research). - Genetic obesity
Clinical and genetic characterization of genetic and syndromal obesity and Phase II & III clinical trials on the effect of MC4Ragonist treatment in monogenetic obesity. International consortium study. - LIKE Healthy Habit
Engaging the young and their environments in multi-ethnic lower socio-economic groups. ZonMw-Hartstichting National consortium study with Amsterdam, Maastricht and Rotterdam. - Dexadagenstudies
A double-blind randomized intervention study aiming at reducing dexamethasone-related side effects in children with acute lymphoblastic leukemia. Collaboration with Pediatric Oncology PMC. - Steroid Studies
Role of corticosteroids and androgens in obesity, metabolism and adrenal diseases. Collaboration with Dept. of Clin Chemistry.
Prader Willi (like) Syndrome studies
- Growth hormone studies PWS/ PWL
Studies on the (long term) effect of growth hormone treatment with Prader-Willi Syndrome and Prader-Willi like syndrome. - Oxytocin study
Trial on the effect of oxytocin on social and eating behaviour in patients with PWS. - YAP PWS transition study
Study on the effect of growth hormone in young adults with PWS. - Skin picking study
Trial on the effect of N-Acetylcysteine on skin picking in children with PWS.
Growth Disorders
- SEENEZ Study
Multicenter study to assess the cost-effectiveness of withdrawing growth hormone treatment after mid-puberty in adolescents with idiopathic growth hormone deficiency. - Face2Gene
To assess the clinical utility of Face2Gene technology in the diagnosis of Silver Russell syndrome (SRS) and Prader Willi syndrome (PWS). - Groeiscan app
Study to investigate the accuracy of the Groeiscan app for height measurements in children at home.
Disorders of sex development
Find more information on focus areas and research lines on the DSD expertise center page.
- Turner syndrome minipuberty
A prospective, descriptive multicenter cohortstudy. The hormonal range of LH, FSH, AMH, inhibin B, testosterone and estradiol in girls with TS during the minipuberty and the relation of the hormone serum levels with the karyotype-Radboud UMC. - Turner Predict study
Predictive factors of ovarian function of young females with Turner Syndrome, a retrospective cohort study- Radboud UMC. - Cognitieve, Emotionele en kinderpsychiatrische problemen bij meisjes met het syndroom van Turner.
Publications
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center. Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H.T.M. Jongejan, Annelies E. Brandsma, Jenny A. Visser, Elisabeth F. C. van Rossum, Bert van der Zwaag, Marielle Alders, Elles M. J. Boon, Mieke M. van Haelst, Erica L.T. van den Akker.
Long-Term Growth Hormone Treatment of Children with PWS: The Earlier the Start, the Better the Outcomes? Lionne N Grootjen, Demi J Trueba-Timmermans,, Layla Damen, Eva F Mahabier, Gerthe F Kerkhof, Anita C S Hokken-Koelega. J clin Med april 2022.
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature. Alicia F Juriaans, Gerthe F Kerkhof, Anita C S Hokken-Koelega.
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. Setmelanotide POMC and LEPR Phase 3 Trial Investigators. Clément K*, van den Akker E* (shared first authorship), Argente J, Bahm A, Chung WK, Connors H, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon G, Kohlsdorf K, Poitou C, Puder L, Swain J, Stewart M, Yuan G, Wabitsch M*, Kühnen P*. Lancet Diabetes Endocrinol. 2020 Dec;8(12):960-970. doi: 10.1016/S2213-8587(20)30364-8. Epub 2020 Oct 30. PMID: 33137293.
Hydrocortisone as an intervention for Dexamethasone induced adverse effects in pediatric patients with acute lymphoblastic leukemia: Results of a double-blind, randomized controlled trial. Warris LT, van den Heuvel-Eibrink MM, Aarsen, FK, Pluijm S, Bierings M, van den Bos C, Zwaan CM, Thygesen H, Tissing WJE, Veening MA, Pieters R, ELT van den Akker. J Clin Oncol 2016 Jul 1;34(19):2287-93.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. PMID: 27585961.
Metabolic Health and Long-Term Safety of Growth Hormone Treatment in Silver-Russell Syndrome. Smeets, C.C.J., Renes, JS, Steen, M. van der & Hokken-Koelega, A.C.S. (2017). J Clin Endocrinol Metabol; 102 (3): 983-991.
Gonadal function and pubertal development in patients with Silver-Russell syndrome. Goedegebuure WJ, Smeets CCJ, Renes JS, de Rijke YB, Hokken-Koelega ACS. Hum Reprod. 2018; 33(11): 2122-30.
Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study. Sävendahl L, Cooke R, Tidblad A, Beckers D, Butler G, Cianfarani S, Clayton P, Coste J, Hokken-Koelega ACS, Kiess W, Kuehni CE, Albertsson-Wikland K, Deodati A, Ecosse E, Gausche R, Giacomozzi C, Konrad D, Landier F, Pfaeffle R, Sommer G, Thomas M, Tollerfield S, Zandwijken GRJ, Carel JC, Swerdlow AJ. The Lancet Diabetes & Endocrinology 2020 Aug;8(8):683-692.
Insulin Sensitivity and beta-Cell Function in SGA Children Treated With GH and GnRHa: Results of a Long-Term Trial. Steen, M. van der, Lem, A.J., Kaay, D.C.M. van der & Hokken-Koelega, A.C. (2016). J Clin Endocrinol Metab 2016; 101 (2): 705-13.
Metabolic health of young adults who were born small for gestational age and treated with growth hormone, after cessation of growth hormone treatment: a 5-year longitudinal study. Steen, M. van der, Smeets, C.C.J., Kerkhof, G.F. & Hokken-Koelega, A.C. (2017). The Lancet Diabetes & Endocrinology 2017; 5 (2): 106-16.
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor. Walenkamp MJE, Robers JML, Wit JM, Zandwijken GRJ, van Duyvenvoorde HA, Oostdijk W, Hokken-Koelega ACS, Kant SG, Losekoot M. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3157-71.
Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy. Donaldson M, Kriström B, Ankarberg-Lindgren C, Verlinde S, van Alfen-van der Velden J, Gawlik A, van Gelder MMHJ, Sas T; on behalf of the European Society for Paediatric Endocrinology Turner Syndrome Working Group. Horm Res Paediatr. 2019;91(3):153-163.
Estradiol matrix patches for pubertal induction: stability of cut pieces at different temperatures. Ankarberg-Lindgren C, Gawlik A, Kriström B, Mazzanti L, Ruijgrok EJ, Sas TCJ. Endocr Connect. 2019 Mar 1.
Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations. Klein KO, Rosenfield RL, Santen RJ, Gawlik AM, Backeljauw PF, Gravholt CH, Sas TCJ, Mauras N. J Clin Endocrinol Metab. 2018 May 1;103(5):1790-1803.
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Claus H. Gravholt, Niels H. Andersen, Gerard S. Conway, Olaf M. Dekkers, Mitchell E. Geffner, Karen O. Klein, Angela E. Lin, Nelly Mauras, Charmian A. Quigley, Karen Rubin, David E. Sandberg, Theo C.J. Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A. van Alfen-van derVelden, Joachim Woelfle, and Philippe F. Backeljauw. On behalf of the International Turner Syndrome Consensus Group. Eur J Endocrinol. 2017 Sep;177(3):G1-G70.
Collaborations
Within Erasmus MC
- Department of Internal Medicine, division endocrinology
Prof. Liesbeth van Rossum, MD, PhD. Laura de Graaff, MD, PhD. Edward Visser, MD, PhD. - Department of Clinical Chemistry
Prof. Yolanda de Rijke, MD, PhD. Sjoerd van de Berg, MD, PhD. - Department of Clinical Genetics
Yolanda van Bever, MD. Sarina Kant, MD, PhD.
National collaborations
- Stichting Kind en Groei (Dutch Growth Research Foundation)
Prof. Anita Hokken-Koelega. - Diabeter, Center for pediatric and adult diabetes care and research, Rotterdam
Dr.H.J. Aanstoot, Dr. D. Mul, Dr T.C.J. Sas - Department of Pediatric Endocrinology, LUMC.
Christiaan de Bruin, MD, PhD. - Department of Pediatric Endocrinology, RadboudUMC
Janielle vd Velden, MD, PhD. - Department of Vascular Medicine, Amsterdam UMC
Carianne Verheugt, MD PhD. - Department of Clinical Genetics, Amsterdam UMC
Mieke van Haelst, MD, PhD, associate professor. - Vrije Universiteit Amsterdam
Prof. Jaap Seidell. Jutka Halberstadt, PhD, associate professor. Prof. Mai ChinAPaw. Karien Stronks. - Maastricht University
Prof. Kremers. - Pediatric Oncology, Prinses Maxima Center Utrecht
Prof. Marry van den Heuvel, Prof. M. Grootenhuis. - TNO, Delft
International collaborations
- Kinderkliniken Inselspital, Bern, Austria: Prof. Christa Fluck. Prof. E. Charmandari.
- Aghia Sophia Children’s Hospital, Athens, Greece.
- Institut für Experimentelle Pädiatrische Endokrinologie, Charité.
- Universitätsmedizin Berlin, Germany. Prof. Peter Kuhnen.
- Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Germany. Prof. Martin Wabitsch.
- Department of Medicine, Columbia University, New York, NY. Wendy Chung.
- Sorbonne Université, INSERM, Nutrition and Obesities Research Unit, Paris, France.
- Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Nutrition Department, Paris, France. Prof. Karine Clement.Christine Poitou, MD, PhD.
- Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom. Prof. Sadaf Farouqi.
