hrp0097p1-536 | Multisystem Endocrine Disorders | ESPE2023

Development and implementation of a Pediatric Endocrinology Education Program in Francophone Africa(In French: Programme de formation en Endocrinologie et Diabètologie Pédiatrique pour l’Afrique subsaharienne Francophone [PEDAF])

Niang Babacar , Boiro Djibril , Bretones Patricia , Chetcha Bodieu Adèle , de Beaufort Carine , Ladjouze Asmahane , Léger Juliane , Mbono Betoko Ritha , Vassili Missambou Mandilou Steve , Sap Ngo Um Suzanne , von Oettingen Julia , Chanoine Jean-Pierre

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

hrp0089p2-p064 | Diabetes & Insulin P2 | ESPE2018

Early Diagnosis of Diabetes Type 2 in Children with Progeria Syndromes

Bald Martin , Timmermann Kirsten , Wadien Tanja , Krahling Eva , Holder Martin

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

hrp0086p2-p291 | Diabetes P2 | ESPE2016

The Story of a de novo Heterozygous HNF1A Mutation

Ponmani Caroline , Banerjee Kausik

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

hrp0095p1-538 | Multisystem Endocrine Disorders | ESPE2022

Capillary Hyperglycemia in Infants - A manifestation of endocrinological urgency, or not.

de Assis Galan Camila , Isabel Scheidt Maria , Cristina Pedroso de Paula Leila , Vanessa de Lima Silva Elis , Simão Medeiros Leonardo , de Oliveira Poswar Fabiano

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

hrp0084p3-899 | Fat | ESPE2015

The Influence of Physical Activity and Physical Fitness in the Metabolic Profile and Microcirculation of Eutrophic, Overweight and Obese Children 5–12 Years of Age

da Penha Jociene Terra , Gazolla Fernanda Mussi , Carvalho Cecilia Noronha de Miranda , Madeira Isabel Rey , Rodrigues Jr Flavio , Machado Elisabeth de Amorim , Sicuro Fernando Lencastre , Farinatti Paulo de Tarso Veras , Collett-Solberg Paulo Ferrez

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

hrp0086p1-p251 | Diabetes P1 | ESPE2016

Metabolic Impairments among Adult Survivors of Paediatric Abdominal and Pelvic Tumours in the St Jude Lifetime Cohort Study

Wilson Carmen , Chemaitilly Wassim , Liu Wei , Srivastava Deokumar , Hudson Melissa , Robison Leslie , Ness Kirsten

Background: Adverse changes in metabolic parameters and body composition are frequently reported among childhood cancer survivors treated with cranial or total body irradiation. Data regarding the occurrence of metabolic impairments among survivors following abdominal and pelvic radiation are lacking.Objective and hypotheses: To define the prevalence of metabolic impairments among survivors of paediatric abdominal and pelvic solid tumours and to assess t...

hrp0082p1-d3-81 | Diabetes (2) | ESPE2014

mHealth app for Young People with Diabetes Type 1 Transferring from Pediatric to Adult Care

Teilmann Grete , Boisen Kirsten , Hommel Eva , Olsen Birthe , Pedersen-Bjergaard Ulrik , Castensoe-Seidenfaden Pernille

Background: Managing diabetes requires self-care, knowledge and support – especially when moving from pediatric to adult care. Finding ways to empower young people in transition and transfer is therefore important.Objective: To develop, test and evaluate a mHealth app for young people with diabetes type 1 transferring from pediatric to adult care.Method: Development: We developed an app-prototype based on rapid prototyping and...

hrp0082p1-d3-99 | Sex Development | ESPE2014

Development of a Next Generation Sequencing Panel for Disorders of Sex Development

Fews Graham A , Hughes Lowri , Bounford Kirsten McKay , Cole Trevor , Krone Nils , Madonald Fiona

Background: Disorders of sex development (DSDs) refer to congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present neonatally with ambiguous genitalia preventing immediate gender assignment or during adolescence where atypical sexual development becomes apparent. Genetic testing is key in establishing a diagnosis, allowing for personalised patient management and may significantly reduce the period of uncertainty for families ...

hrp0092p3-323 | Late Breaking Abstracts | ESPE2019

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Yuan Yuan , Shufang Liu

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

hrp0092p2-291 | Thyroid | ESPE2019

Investigation of Oxidative Effect in Saliva and Gingival Groove Fluids in Children with Hashimoto Thyroiditis

Atar Müge , Tan Aykut , Yetkin Ay Zuhal , Atar Müge , Pirgon Özgür

The aim of this study was to determine the periodontal health status in patients with Hashimoto thyroiditis (HT) and investigate the gingival groove fluid and saline oxidative stress parameters in order to demonstrate their relationship.Method: 30 patients between the ages of 11-17 years and 30 healthy volunteers aged between 10-17 years were included in the study. Serum tT4, TSH, anti-TPO, glucose, insulin, ALT, triglyceride, total chol...