hrp0095p2-291 | Thyroid | ESPE2022

Graves' disease outcome in children and adolescents

Meriem Bensalah , Malek Iabbassen , Amira Bouchenna , Hanane Brahimi , Brahim Ghenam , Meriem Medjaher , Samia OuldKablia

Background: Graves' disease is a rare autoimmune disorder in children. Its incidence is 0.1/100,000 person-years in young children and 3/100,000 person-years in adolescents. It is related to the production of TSH-stimulating autoantibodies occurring on a particular genetic predisposition. The particularity of Graves' disease in children is the risk of relapse after medical treatment, which is more frequent than in adults with a frequency of around 30...

hrp0086con1.3 | Challenges in the Management of DSD | ESPE2016

Psychological Challenges

D'Alberton Franco

The new care paradigm for DSD promoted by the Chicago Consensus of 2005 raised many psychological challenges, the most important being the way decisions regarding the sex of rearing and diagnosis communication are made. The traditional care paradigm, sustained by a binary sex categorization, suggested that for newborns, the decision about the sex of rearing should be made as soon as possible and no later than 18 months of life and that little should be said to the involved per...

hrp0082p2-d2-339 | Diabetes (1) | ESPE2014

Direct Costs of Diabetes Care in Pediatric Patients with Type 1 Diabetes in Greece

Karachaliou Feneli , Athanasakis Konstantinos , Tsendidis Charalabos , Kitra Maria , Michalakos Stefanos , Karavanaki Kyriaki

Background: Type 1 diabetes (T1DM) is a chronic disease with increasing incidence and major impact on the health care costs.Objective and hypotheses: To estimate the direct cost of pediatric T1DM in the Greek National Health System (NHS) and its distribution by service category.Method: This is a retrospective cost-of-illness study, focusing on the direct costs from the healthcare system’s point of view. All patients aged 0&#15...

hrp0097p2-246 | Late Breaking | ESPE2023

Results from a Multi-Stakeholder Meeting on Medical Devices in Paediatric Type I Diabetes

Biester Torben , Reschke Felix , Danne Thomas , Julien Marc , Lusar Irja , Cheng Katharine , Cavaller-Bellaubi Maria , Katz Michelle , Niemoeller Elisabeth , Renard Eric , Sturny Maren , Geertsma Robert , Vassal Gilles

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

hrp0089p1-p175 | Growth & Syndromes P1 | ESPE2018

Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1 – Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency

Montalbano Antonino , Juergensen Lonny , Fukami Maki , Thiel Christian T , Hauer Nadine H , Fricke-Otto Susanne , Binder Gerhard , Naiki Y , Ogata Tsutomu , Hassel David , Rappold Gudrun A

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...

hrp0082p2-d2-471 | Growth (1) | ESPE2014

When and Why Should We Investigate the SRCAP Gene in Cases of Short Stature?

Lucas Luiza Silveira , Boycott Kym M , Nikkel Sarah M , Lucas Elizabeth Lemos Silveira

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.Objective: To investigate the presence of SRC...

hrp0094wg3.2 | ESPE Working Group on Diabetes Technology (DT) Symposium | ESPE2021

Decision Support System for the diabetologists - practical experience

Dovc Klemen ,

Optimal management of type 1 diabetes requires precise insulin administration to maintain glucose within optimal glucose ranges. Insulin dosage regimens are complicated by day-to-day variability in insulin requirements to maintain near-normoglycemia, which can cause considerable excursions in glucose levels. Digital decision support systems have been developed to help healthcare professionals facilitate timely, more frequent and adequate insulin dose adjustments, either in per...

hrp0095p2-172 | Growth and Syndromes | ESPE2022

Practicability and user friendliness of height measurement by proof of concept APP using Augmented Reality, in 22 healthy children

Rösler Antonia , Gasparatos Nikolaos , Hermanussen Michael , Scheffler Christiane

Background: Child growth is a dynamic process and influenced by various environmental factors. When measured at short intervals, growth of healthy children shows certain characteristic patterns, which have rarely been studied, but are of great importance for clinical purposes. The study was approved by the Ethical Committee of the University of Potsdam.Aim: To see whether measurements of height using photographic display...

hrp0094p2-9 | Adrenals and HPA Axis | ESPE2021

Variability of advice and education for steroid sick day dosing in Duchenne Muscular Dystrophy and the impact of the COVID-19 pandemic: Results of a UK wide patient survey

Thakrar S , Cheung MS , Johnson A , Katugampola H , Manzur A , Muntoni F , Mushtaq T , Turner C , Wood C , Guglieri M , Wong SC ,

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

hrp0094p2-132 | Diabetes and insulin | ESPE2021

Features of the manifestation of type 1 diabetes in children in COVID-19 pandemic

Rudkova Ekaterina , Solntsava Anzhalika , Grisuk Ivan ,

Type 1 diabetes is one of the common chronic diseases of children’s age. In recent years there is an increase in the rate of primary morbidity of 1 type diabetes in children with a displacement of peak manifestation for age 5-9 years. Medical History of 110 patients aged from 0.5 to 18 years diagnosed with 1 type diabetes have been analyzed in the Republican Center for Pediatric Endocrinology with a division into comparison group (2018- 2019) and control group (2020). Com...