ESPE Abstracts

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

In children with XLH, high circulating levels of FGF23 cause hypophosphatemia with consequent rickets, skeletal deformities, and growth impairment. Conventional therapy consists of multiple daily doses of oral phosphate and active vitamin D (Pi/D). Burosumab is a fully human monoclonal antibody against FGF23 indicated for the treatment of XLH. In the active-control study CL301 (NCT02915705), 61 children with XLH (1–12 years old) were randomized (1:1) to receive subcutaneo...

Background: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulphonylureas improve long-term glycaemic control. Although KATP channels are extensively expressed in the brain, the effect of sulphonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulphonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-...

Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to evaluate the global prevalence of growth hormone impairment and different endocrinopathies in SCD in all publications in the past 25 years.Results: Sixteen studies were included from 9 countries (USA, Canada, UK, Brazil, Jamaica, Egypt, Turkey, Saudi Arabia, and Bahrain) after 2000. The total number of patients was 1286. Most pat...

Introduction: Children’s type 1 diabetes is a rare entity, its prevalence is still poorly known, which makes its diagnosis, therapeutic management and prognosis increasingly difficult and uncodified. The purpose of our study is to report the experience of the Endocrinology - Diabetology and Nutrition Department in the management of diabetes in children.Methods: This is a retrospective, descriptive study including 1...

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

The structure and design of the ESPE web portal (www.espe-elearning.org) is based on facilitating Problem-Based Learning (PBL). It consists of carefully designed problems that challenge medical students, residents, postdoc’s to use problem solving techniques, self-directed learning strategies and specialty knowledge.The ESPE e-learning web portal is an interactive learning environment for up to date topics in pediatric endocrinology and diabetes co...

Obesity, with its complications, emerges as a major contributor to the global health burden becoming pandemic. It's an extremely complex disorder resulting of interaction of biological, social and behavioural factors that cause increase in food intake and reduction in energy expenditure. Although few monogenic forms and indeed several susceptibility loci have been described, the molecular basis underlying early onset obesity remain largely unknown. GWAS revealed consistent...

Background: okur-chung neurodevelopmental syndrome was confirmed to be associated with developmental disorders attributed to germline CSNK2A1 pathogenic missense variants. Only 26 cases and 22 kinds of genotype have been reported in the world so far. All reports highlighted the recognizable facial features of the syndrome as well as frequently occurring clinical features including neurodevelopmental delay, short stature, gastrointestinal, musculoskeletal and i...