ESPE Abstracts

Background: A specialized endo-genetic service was established in our clinic in January 2018. The service is multi-disciplinary and includes not only endocrinologists but also other physicians from different fields (e.g urology, orthopedics, imaging), nursing staff, psychologists, social workers, dieticians, genetic laboratories and bioinformaticians. The service is now run by a board-certified physician in both pediatric endocrinology and medical genetics.</p...

Background: Genetic workup is negative in up to 40% of children presenting with clinical signs of Silver-Russell syndrome (SRS). HMGA2 variants causing SRS are rare, accounting for less than 1% of all reported cases.Case description: A 1y,8m-old boy was referred to our endocrinology institute due to severe failure to thrive (HAZ=-4.6 SDS, WAZ=-4.8 SDS) and feeding difficulties requiring nutritional support via P...

Background: The current era is marked by significant advancements in genomic medicine, characterized by innovative technologies in both cytogenetics and molecular methods. As these technologies evolve, costs decrease, making genetic testing more accessible and feasible. This trend is particularly evident in the field of genetic endocrine disorders. Presently, chromosomal microarrays and next generation sequencing are the predominant methods utilized. In the ne...

Background: The rapid advancement in understanding molecular mechanisms, and the availability of genetic testing, has led to a paradigm change in many endocrine disorders. Making an accurate diagnosis enables tailored follow-up, treatment, and family genetic counselling. However, a cooperation is required, since the endocrinologist has a more profound understanding of the disorders, but the geneticist is usually better skilled in analyzing genetic results and ...

Background: GnRH-independent precocious puberty with elevated β-human chorionic gonadotropin (β-HCG) levels can be the presenting sign of secreting germ cell tumor (GCT) in boys. These tumors are very rare, but have a higher incidence rate in Klinefelter syndrome.Case presentation: Here we report a case of a 7.3 year-old boy presenting with precocious puberty. In his physical examination, his height was 143.0 c...

Objective: To describe clinical manifestations of SARS-CoV-2 infection in children, adolescents, and young adults with established type 1 diabetes and explore the effects of COVID-19 on glycemic control and disease course.Methods: Observational study conducted at three pediatric diabetes clinics in Israel between mid-March-2020 and mid-March-2021. Included were young people with established type 1 diabetes, <30years, ...