hrp0092p2-295 | Thyroid | ESPE2019

The Incidence of Congenital Hypothyroidism During the Neonatal Screening Program in the Republic of Karakalpakstan, Uzbekistan

Zhiemuratova Gulshad , Sharipova Madina , Rakhimova Gulnara

Background: In the world, the incidence of congenital hypothyroidism varies in wide ranges. In the neonatal screening based on thyroid-stimulating hormone (TSH), the optimal diagnostic level of TSH is essential to ensure that the true cases of congenital hypothyroidism are not missed.The goal was to compare the incidence rate of congenital hypothyroidism during the course of changes in the screening protocol for the periods of 2003-2007 ...

hrp0092p1-393 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Evaluation of Body Composition and Resting Metabolic Rate in Children with Growth Hormone Deficiency

Masueva Madina , Okorokov Pavel , Pankratova Maria , Yusipovich Alexander , Shiryaeva Tatiana

Background/Aims: It is known that growth hormone regulated metabolic processes, including lipid metabolism and the amount of adipose tissue. The purpose was to study metabolic rates at rest in children with growth hormone deficiency (GHD) and their relationship with lipid and hormone levels.Objective: To analyse the body composition and resting metabolic rate (RMR) among prepubertal children with GHD<p class="abstext...

hrp0084p3-1176 | Thyroid | ESPE2015

Graves’ Disease in Childhood and Adolescence: Clinical Manifestations, Adverse Effects, and Predictive Factors for Response to Antithyroid Drugs

Dujovne Noelia Vanesa , Dratler Gustavo , Pitoia Fabian , Felipe Laura , Ayarzabal Victor , Soria Ianina , Berger Malena , Belgorosky Alicia , Herzovich Viviana

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

hrp0097p2-177 | Fat, Metabolism and Obesity | ESPE2023

Correlations between the degrees of obesity and dyslipidemia in a pediatric population from Romania

Amalia Ioana Arhire , Papuc Teodora , Miruna Sanziana Chiper , Chiriac Malina , Stoica Alexandra , Tambrea Elena

Keywords: pediatric obesity, metabolic syndrome, dyslipidemia, abdominal obesity, cardiovascular risk.Introduction: The prevalence of pediatric obesity is rising globally as well as in Romania and so are the complications of obesity. Dyslipidemia is one of the most frequent complications and is associated with cardiovascular risk even in children or teenagers. Evaluating the degree of obesity and the correlations between...

hrp0084p2-315 | DSD | ESPE2015

Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

Buzduga Mihaela , Meyrat Blaise , Typaldou Sofia Anna , Estremadoyro Vanina , Maestre Leonor Alamo , Dwyer Andrew , Pitteloud Nelly , Phan-Hug Franziska

Background: Chimerism is the phenomenon of two or more genetically distinct cell lines (originating from different zygotes) in the same individual. In situations when the sex of the fertilised eggs is disparate, it can lead to intersex phenotypes.Objective and hypotheses: We report a case of ovotesticular disorder of sexual development with chimerism resulting from a twin pregnancy (not involving assisted reproductive technologies).<p class="abstext"...

hrp0082p2-d2-337 | Diabetes (1) | ESPE2014

The Length of the Deletion in the Region 17q Contributes to the Individual Variability of the Phenotype of Patients with Renal Cysts and Diabetes Syndrome (RCAD, HNF1B-MODY)

Pruhova Stepanka , Dusatkova Petra , Malina Michal , Slamova Zuzana , Blahova Kveta , Kotalova Radana , Dusek Jiri , Lebl Jan , Seeman Tomas , Cinek Ondrej

Background: The renal cysts and diabetes (RCAD) syndrome caused by defects in the HNF1B is characterized by a broad spectrum of clinical features. While heterozygous point mutations are relatively rare, we focused on gross deletions of the HNF1B that are determined by multiplex ligation probe-dependent amplification (MLPA). Rather importantly, the deletions most often extend beyond the single HNF1B, thus more deleted genes may participate in the clin...

hrp0084p2-381 | Fat | ESPE2015

Metformin in Combination with Lifestyle Changes Effectively Reduces BMI and Waist Circumference in Overweight/Obese Children and Adolescents

Smetanina Natalija , Seibokaite Adrone , Valickas Raimondas , Kuprionis Gintaras , Grigoniene Jolanta Janina , Rokaite Ruta , Vitkauskiene Astra , Albertsson-Wikland Kerstin , Verkauskiene Rasa

Background: Overweight (OW) and obesity in paediatric population has been shown to be associated with an increase in prevalence of insulin resistance and type 2 diabetes (T2D) in youth.Objective and hypotheses: The aim of this study was to assess the efficiency and safety of metformin use in combination with lifestyle changes or alone for weight management in OW and obese (OB) children and adolescents.Methods: Study included 145 10...

hrp0094p1-54 | Bone B | ESPE2021

Decreased bone mineral density in children receiving long-term anticoagulation is associated with pubertal development

Raimann Adalbert , Patsch Janina , Weber Michael , Haufler Florentina , Pees Christiane , Albinni Sulaima , Male Christoph , Haeusler Gabriele , Thom Katharina ,

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

hrp0095rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

The European Registries for Rare Bone and Mineral Conditions: Registering New Cases of Paediatric Rare Bone and Mineral Conditions Using an Electronic Reporting Tool

Luisa Priego Zurita Ana , Bryce Jillian , Alves Inês , Boarini Manila , Grasemann Corinna , Högler Wolfgang , Kassim Javaid M , Linglart Agnès , Mohnike Klaus , Mordenti Marina , Mortier Geert , Roos Marco , Sangiorgi Luca , Skarberg Rebecca , Soucek Ondrej , Faisal Ahmed S , Appelman-Dijkstra Natasha M

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting ...

hrp0097p1-411 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone): Collecting Core Data Elements and Clinician and Patient-Reported Outcomes

Luisa Priego Zurita Ana , Cherenko Mariya , Alves Inês , Boarini Manila , Grasemann Corinna , Högler Wolfgang , Kassim Javaid M , Linglart Agnès , Mohnike Klaus , Mordenti Marina , M de Rooij Tess , Roos Marco , Sangiorgi Luca , Skarberg Rebecca , Soucek Ondrej , Faisal Ahmed S , M Appelman-Dijkstra Natasha

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clin...