hrp0092p1-196 | Fat, Metabolism and Obesity (1) | ESPE2019

Why are Patients with Obesity Due to Leptin Receptor Deficiency not Sufficiently Recognized? Prevalence Estimation Based on European Allele Frequencies and Thoughts on the Discrepancy

Kleinendorst Lotte , Abawi Ozair , van den Akker Erica , Van Haelst Mieke

Background: Biallelic loss of function (LoF) mutations in the leptin receptor gene (LEPR) cause a striking phenotype of early-onset severe obesity and hyperphagia. Additionally, hypogonadotropic hypogonadism, growth hormone deficiency, and/or hypothyroidism are often present. Currently, 19 European patients (all aged <30 years) are described in literature. As clinical trials investigating MC4R-agonist treatment are performed throughout Europe, ide...

hrp0094fc9.1 | Growth Hormone and IGFs | ESPE2021

How to interpret growth hormone stimulation test results in children and adolescents with overweight and obesity? A systematic review and meta-analysis and evidence-based proposal for weight-status adjusted cut-offs

Abawi Ozair , Augustijn Dieuwertje , Hoeks Sanne , Rijke Yolanda de , van den Akker Erica ,

Background: Peak stimulated growth hormone (GH) levels are known to decrease with increasing BMI, possibly leading to overdiagnosis of GH deficiency (GHD) in children with overweight and obesity. However, current guidelines do not provide guidance how to interpret peak GH values of these children. The aim of this systematic review and meta-analysis was to study the effect of BMI standard deviation score (SDS) on stimulated peak GH values in children, to identi...

hrp0092p1-46 | Fat, Metabolism and Obesity | ESPE2019

How to Recognize Underlying Somatic Causes of Paediatric Obesity? Performance of the Diagnostic Recommendations of the Endocrine Society Guideline and Suggestions for Improvement

Abawi Ozair , Kleinendorst Lotte , van der Voorn Bibian , Brandsma Annelies , van Rossum Elisabeth , van Haelst Mieke , van den Akker Erica

Background: Underlying causes of obesity are thought to be rare even in specialized paediatric endocrinology clinics. However, evidence is limited. The Endocrine Society (ES) guideline for paediatric obesity makes the following diagnostic recommendations: endocrine evaluation in presence of reduced growth velocity, evaluation of cerebral obesity in presence of CNS injury, re-evaluation of drug choice in patients using antipsychotics. Genetic testing is recomme...

hrp0092p1-47 | Fat, Metabolism and Obesity | ESPE2019

How Early is 'extreme Early-Onset Obesity'? Results of Comprehensive Growth Curve Analysis to Identify Genetic Obesity Disorders Based on Age of Onset of Obesity

Abawi Ozair , Kleinendorst Lotte , Blankers Lizette , van Haelst Mieke , van der Voorn Bibian , van den Akker Erica

Background: Early-onset obesity is associated with genetic obesity disorders. According to the Endocrine Society guideline for paediatric obesity, genetic screening is indicated in selected cases with age of onset (AoO) of obesity <5 years. However, this cut-off value lacks evidence. Identifying genetic obesity is vital as treatment for leptin-melanocortin pathway disorders becomes available. We aimed to determine whether AoO of obesity is predictive for g...

hrp0094p1-103 | Adrenal B | ESPE2021

Leukocyte telomere length in children with Congenital Adrenal Hyperplasia

Raftopoulou Christina , Abawi Ozair , Sommer Grit , Binou Maria , Paltoglou George , Fluck Christa , Akker Erica van den , Charmandari Evangelia ,

Introduction: Exposure to chronic stress and hypercortisolism is associated with decreased leukocyte telomere length (LTL), a marker for accelerated biological aging and cardiovascular disease. Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. The aim of our study was to investigate LTL in children with CAH and its relation with CAH subtype, daily glucocorticoid dose and treatment quality.Method...

hrp0094p2-2 | Adrenals and HPA Axis | ESPE2021

How do urine steroid metabolites of spot samples correlate with 24 hour urine specimens in children with congenital adrenal hyperplasia?

Sommer Grit , Abawi Ozair , Groessl Michael , Halbsguth Ulrike , Charmandari Evangelia , Akker Erika L.T. van den , Fluck Christa E. ,

Introduction: Steroid profiling in children with congenital adrenal hyperplasia (CAH) is used to monitor the balance between androgen and cortisol metabolites and to decide on the optimal glucocorticoid dosage. Twenty-four hour collection is the gold standard for measurement of steroid metabolites in urine, because steroid production follows a circadian rhythm and is influenced by short-term stress and steroid drugs. For some children, e.g. those who were diap...

hrp0094p2-191 | Fat, metabolism and obesity | ESPE2021

Resting energy expenditure and body composition in children and adolescents with severe obesity due to (suspected) medical causes: comparison between different subtypes of obesity

Abawi Ozair , Koster Emma , Welling Mila , Boeters Sanne , van Rossum Elisabeth , van der Voorn Bibian , de Groot Cornelis , van den Akker Erica ,

Background: Paediatric obesity is a multifactorial disease characterized by an imbalance between energy intake and expenditure. In rare cases, obesity is caused by underlying medical disorders arising from disruptions in the leptin-melanocortin pathway, which regulates satiety and energy expenditure.Aim: To investigate resting energy expenditure (REE) in relation to body composition in children and adolescents with sever...

hrp0097fc3.1 | Fat, metabolism and obesity 1 | ESPE2023

Early childhood height and weight development in children with monogenic obesity: A European multicenter cohort study

Zorn Stefanie , de Groot Corjan , Brandt Stephanie , von Schnurbein Julia , Abawi Ozair , Bounds Rebecca , Ruck Lisa , Guijoa Blanca , A. Martos-Moreno Gabriel , Nicaise Clarisse , Courbage Sophie , Dubern Béatrice , Poitou Christine , Clément Karine , Argente Jesús , Kühnen Peter , Farooqi Sadaf , Wabitsch Martin , van den Akker Erica

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...