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 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, ...

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incident...

Background: Abnormal uterine bleeding is a common complaint among adolescents, however, there are no evidence-based guidelines for their treatment, and there is a paucity of outcome data available.Objectives: To describe the characteristics of adolescents with menstrual abnormalities and to describe management protocol outcomes.Methods: This is a retrospective study, based on infor...

Background: The polyethylene glycol (PEG) method, which utilizes the addition of PEG to precipitate immunoglobulin fractions in order to measure free thyroid stimulating hormone (TSH), has been implemented as a tool for investigating incongruities in TSH measurement.Aim of the study: To investigate the practical application of PEG-TSH testing in pediatric scenarios with a discrepancy between elevated TSH and normal free ...

Background: Insulin treatment in a very low birth weight neonate having persistent hyperglycemia is challenging. The very recently reported novel human genetic cause of neonatal diabetes due to NKX2.2 pancreatic transcription factor mutations is associated with very low birth weight deliveries.Objective and hypotheses: To study the diagnostic process, the molecular genetics, the clinical phenotype, and the significant therapeutic challenges in the manage...