hrp0086p1-p21 | Adrenal P1 | ESPE2016

Increased Salivary and Hair Cortisol and Decreased Salivary Alpha-Amylase Concentrations in Obese Prepubertal Girls

Papafotiou Chrysanthe , Christaki Eirini , van den Akker Erica , Wester Vincent , Apostolakou Filia , Papassotiriou Ioannis , Chrousos George , Pervanidou Panagiota

Background: Obesity has been associated with perturbations of the hypothalamic–pituitary–adrenal (HPA) axis and the sympathetic nervous system (SNS). Scalp hair cortisol has been recognized as a reliable index of long-term cortisol concentrations.Objective and hypotheses: Aim of this study was to compare indices of HPA axis and SNS activities, such as, respectively, the salivary cortisol and alpha-amylase diurnal patterns, and their relations i...

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...

hrp0086p1-p462 | Fat Metabolism and Obesity P1 | ESPE2016

Determinants of Advanced Bone Age in Childhood Obesity

Jan de Groot Cornelis , van den Berg Adriaan , Ballieux Bart , Kroon Herman , Rings Edmond , Maarten Wit Jan , van den Akker Erica

Background: Childhood obesity is associated with advanced bone age (BA), leading to an altered growth pattern. Previous results of studies suggest that androgens, estrogens, sex hormone binding globulin (SHBG) and insulin are responsible for this phenomenon, but results are contradictory and might be biased by confounders.Objective and hypotheses: To investigate the independent effects of estrogens, androgens, SHBG and insulin parameters on BA advancemen...

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...

hrp0094fc1.2 | Adrenal | ESPE2021

Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia – longitudinal analysis of real world data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica LT , Aparecida Sartori Tania , Bachega Sanchez , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guvan Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Anna , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

hrp0095lb11 | Late Breaking | ESPE2022

Cortisol evaluation in 106 neonates born from mothers using corticosteroids during pregnancy. Proposal for practical approach in clinical practice.

Snijder P.M. , Brandsma AE , van Wijk CAM , Baartmans MGA , van der Heyden JC , van den Akker ELT , Sas TCJ

Context: Supra-physiological exogenous corticosteroids used during the last months of pregnancy may lead to temporary neonatal adrenal suppression. Little is known about the outcome of neonates from mothers who used corticosteroids during pregnancy.Objective: The evaluation of clinical symptoms and biochemical findings of adrenal suppression in neonates from mothers using corticosteroids during pregnancy.<p class="ab...

hrp0084p2-197 | Adrenals | ESPE2015

Evaluation of Medical Treatment in the First 2 Years of Life with a New Dutch National Longitudinal Registry for Children with Congenital Adrenal Hyperplasia (CAH)

van der Linde Annelieke , van den Akker Erica , Bakker- van Waarde Willy , Hannema Sabine , Hoorweg-Nijman Gea , van de Kamp Hetty , Klink Daniel , Odink Roelof , Straetemans Saartje , van Trotsenburg Paul , Verkerk Paul , Claahsen-van der Grinten Hedi

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

hrp0094fc7.1 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

The Use Of e-REC For Capturing The Occurrence Of COVID-19 Infections In People With Rare Endocrine Conditions

Bryce Jillian , Di Guisto Vicki , Ali Salma R. , Alexandraki Krystallenia , Badiu Corin , Baronio Federico , Biermasz Nienke R. , Brandi Maria Luisa , Castinetti Frederic , Ceccato Filippo , Chifu Irina-Oana , Cools Martine , Danne Thomas , Druce Maralyn , Esposito Daniela , Falhammar Henrik , Fugazzola Laura , Gan Hoong-Wei , Giordano Roberta , Isidori Andrea M. , Johannsson Gudmundur , Karavitaki Niki , Linglart Agnes , Luger Anton , Maffei Pietro , Marazuela Monica , Jaksic Vladka Pandzic , Paschou Stavroula A. , Persani Luca , Domingo Manuel Puig , Reisch Nicole , Schalin-Jantti Camilla , Akker van den Erica L.T. , Vassiliadi Dimitra , Young Jacques , Appelman-Dijkstra Natasha , Grozinsky-Glasberg Simona , Pereira Alberto M. , Ahmed S. Faisal ,

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

hrp0094p1-114 | Fat, Metabolism and Obesity B | ESPE2021

EuRRECa Registry Genetic Obesity Survey Results

Shaikh Guftar , Akker Erica van den , Bryce Jillian , Ali Salma , Amin Rakesh , Cools Martine , Dattani Mehul , Grugni Graziano , Khairi Ranna El , Persani Luca , Peters Catherine , Rossum Elisabeth van , Waele Kathleen De , Gan Hoong-Wei , Ahmed Faisal ,

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

hrp0097fc4.3 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

Punt Lauren , Kooijman Sander , van der Kaay Danielle , van Tellingen Vera , Bakker - van Waarde Willie , Boot Annemieke , van den Akker Erica , van Boekholt Anneke , van Duyvenvoorde Hermine , van Nieuwaal - Van Maren Nancy , Woltering Claire , Heijligers Malou , van der Heyden Josine , Bannink Ellen , Losekoot Monique , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...