ESPE Abstracts

Background: The Study and Collection of Observational data for Patients with easypod® Connect (SCOPE) French retrospective study follows children with growth disorders treated with recombinant human growth hormone (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from the SCOPE study analysing the adherence to r-hGH therapy in a real-world setting and its effec...

Background: In selected cohorts, a genetic cause is found in up to 40% of children presenting with severe short stature (height <-3 SDS) and 30% with multiple pituitary hormone deficiency (MPHD). Since 2020, to inform diagnosis and tailor management, three NHS England genomic laboratory hubs (GLHs) have offered clinicians access to gene panels as part of routine care for short stature: R147 ‘Growth failure in early childhood’ (e...

Introduction: Hypochondroplasia (HCH) is a form of mild dwarfism caused by heterozygous gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3). FGFR3 is a negative regulator of endochondral bone growth, and individuals with HCH typically exhibit characteristics such as disproportionate short stature with shortening limb length, lumbar lordosis, and macrocephaly. Regarding recombinant human growth hormone (rhGH) therapy in children with H...

Objectives: American Thyroid Association (ATA) and European Thyroid Association (ETA) published guidelines about evaluation, treatment and follow-up. Despite these recommendations, published data on this subject is insufficient. This study aims to investigate the outcome of pediatric DTC and factors predicting the response to therapy in pediatric DTC.Methods: Medical records of 46 children diagnosed with DTC, between 200...

Objective: Elevated serum alkaline phosphatase (ALP) levels in pediatric patients can result from various etiologies, with transient hyperphosphatasemia, bone pathologies, and hepatic diseases being the most common. This study aimed to elucidate the etiological factors responsible for elevated ALP levels and to evaluate the clinical presentations of transient hyperphosphatasemia in these patients.Materials and Methods: T...

Background and aims: Craniopharyngiomas (CPs) are rare, non-malignant tumors near the pituitary and hypothalamus. Besides surgery, radiotherapy plays an important role in the treatment strategy. Both tumor-related factors and treatment can cause severe obesity and neuroendocrine disorders. Clinical studies have shown that endocrine deficits can occur at a dose level of 18Gy and risk increases with higher doses. Proton therapy (PT) is increasingly used in order...

Introduction: Small-for-gestational-age (SGA) children frequently face challenges in achieving expected growth, with 10% experiencing growth failure and subsequently seeking pediatric endocrinologists for short stature. However, the determinants of growth hormone therapy response in SGA remain unclearObjective and Method: This study examines the three-year response to growth hormone (GH) therapy and factors affecting gro...

Introduction: Hyperinsulinemic hypoglycemia (HH) is characterized by inappropriate insulin secretion from pancreatic β-cells despite low blood glucose levels. The most common mutations causing HH affect the KATP channel genes [ABCC8 (36.8%) and KCNJ11 (5.9%)]. This report shares the experience of transitioning from daily subcutaneous octreotide to long-acting octreotide-LAR in a patient with HH due to a KATP channel mutation.<p class...

Introduction: Congenital tufting enteropathy (CTE) is a rare autosomal recessive enteropathy that typically presents in early life and is often characterized by persistent diarrhea. Height standard deviation scores (SDS) and body mass indexes are generally low in patients with CTE. However, information about the effects of growth hormone (GH) therapy in these patients is lacking.Case Presentation: A 13-year-old girl with...

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...