hrp0097p1-400 | Adrenals and HPA Axis | ESPE2023

11-oxygenated androgens as biomarkers in congenital adrenal hyperplasia: reference intervals for children

P.H. Adriaansen Bas , oude-Alink Sandra , W. Swinkels Dorine , A.M. Schröder Mariska , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen - van der Grinten Hedi , E. van Herwaarden Antonius

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

hrp0089p1-p132 | Fat, Metabolism and Obesity P1 | ESPE2018

Non-Invasive Measurements of Central Blood Pressure with Arterial Stiffness Indicators as a New Research Tool for Predicting Cardiovascular Risk in Children with Type 1 Diabetes Mellitus and Obesity

Noiszewska Klaudyna , Puchalski Mateusz , Skolimowska Anna , Bossowski Artur

Introduction: The main problem of contemporary diabetology is to prevent chronic complications of carbohydrate metabolism disorders according to DM1 and obesity (pre-disposing for DM2). The task is to find simple tools that allow rapid identification of vascular lesions and early treatment intervention.Aim of the study: The aim of the study was to evaluate parameters of CBP in patients with DM1 and obesityMaterials and methods: The...

hrp0086p2-p541 | Fat Metabolism and Obesity P2 | ESPE2016

Non-Medicament Treatment of Severe Obese Children, Using the One-Year Courses

Zagrebaeva Olga , Solntsava Anzhalika , Yemelyantsava Tatsiana

Background: It is hard to treat severe obese children only with diet and physical activity, psychological interventions are need.Objective and hypotheses: To examine the differences between courses of non-medicament treatment of severe obese children.Method: We examined 32 pubertal severe obese children BMI 31.2±0.8 kg/m2, 13.5±0.3 years. The newel (in Belarus) course of non-medicament treatment of obesity (die...

hrp0084p1-96 | Growth | ESPE2015

Ligase IV Deficiency Syndrome as a Cause of Microcephalic Primordial Dwarfism in Dizygotic Twins

Girardin Celine , Ranza Emmanuelle , Klee Philippe , Dirlewanger Mirjam , Caflisch Marianne , Bottani Armand , Schwitzgebel Valerie

Background: Microcephalic primordial dwarfism (MPD) is a group of rare genetic disorders defined by severe growth restriction of both prenatal and postnatal weight (W), height (H), and particularly head circumference (HC).Objective and hypotheses: To elucidate the genetic origin of the MPD in dizygotic twins.Method: Exome sequencing of 19 genes known to be implicated in microcephaly was performed.Results: Diz...

hrp0089p1-p013 | Adrenals and HPA Axis P1 | ESPE2018

Role of Mast Cells in the Establishment of the Mineralocorticoid Pathway in the Developing Mouse

Naccache Alexandre , Louiset Estelle , Lamaziere Antonin , Thomas Michael , Arabo Arnaud , Lefebvre Herve , Castanet Mireille

Mast cells are known to control mineralocorticoid synthesis and secretion in human normal adrenal gland and aldosterone-producing adenomas through release of serotonin. We recently detected these immune cells in human fetal adrenal from 18 weeks of gestation in the subcapsular layer, in correlation with the expression of steroidogenic enzymes required for aldosterone biosynthesis. This observation suggests the implication of mast cells in the mineralocorticoid synthesizing pat...

hrp0089p2-p138 | Fat, Metabolism and Obesity P2 | ESPE2018

Physical Activity Determined by Accelerometry Before and After an Integral Treatment Program in Children with Abdominal Obesity

Azcona Maria Cristina , Morell Lydia , Ochotorena Amaia , Ana Ojeda , Leon Jose Luis , Prados Monica , Chueca Maria , Marti Amelia , GenoI Other members Grupo

Introduction: Physical activity (PA) is one of the treatments to promote weight loss in children with obesity. The WHO advices to perform moderate to vigorous (MV) PA during 60-min daily. It is necessary to measure the effect of increasing PA and the adherence to therapy.Aims: To evaluate PA using accelerometry at the onset and after 8 weeks of treatment with nutritional intervention and increase in PA.Patients, material and method...

hrp0097p1-155 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The long-term efficacy of triptorelin 3-month depot in girls with central precocious puberty

Hyun Park Kyu , Gwag Si-Hwa , Yoojin Chung Lindsey , Kang Eungu , Nam Hyo-Kyoung , Rhie Young-Jun , Lee Kee-Hyoung

Purpose: The 3-month gonadotropin-releasing hormone analogs (GnRHa) are expected to achieve better compliance in central precocious puberty (CPP) patients, but the 1-month depot remains the dominant choice for conventional treatment worldwide. Our study aimed to investigate the long-term efficacy of 3-month GnRHa for the treatment of CPP.Methods: In this retrospective study, 69 Korean girls diagnosed with CPP were includ...

hrp0095fc3.6 | Early Life and Multisystem Endocrinology | ESPE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the Use of a Core Registry for Collecting Common Data Elements and Clinician and Patient Reported Outcomes

Luisa Priego Zurita Ana , Ali Salma R , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M. , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenström Anna , Patócs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdenek , Taruscio Domenica , Edward Visser W , M Appelman-Dijkstra Natasha , Faisal Ahmed S

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0089fc14.1 | Multisystem Endocrine Disorders | ESPE2018

Awareness and Participation in Rare Disease Registries Within the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Visser W Edward , Hiort Olaf , Pereira Alberto M , Ahmed S Faisal

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...