ESPE Abstracts

Background: Prader-Willi Syndrome (PWS), is a rare complex, genetic neurodevelopmental disorder characterised by hypotonia, poor feeding, neonatal failure to thrive. Untreated, patients progress to hyperphagia and life-limiting extreme obesity. Growth hormone therapy (GHt) is currently the only licenced therapy in PWS. The consensus statement by Deal et al, suggested GH treatment at around 2-years before the onset of obesity. While there are no data to support...

Background: A robust and meaningful transition pathway helps to prepare young people (YP) for the move from children and YP's services to the adult setting. This can prevent YP from being lost to follow-up and improve long-term health outcomes. Healthcare “transition” describes the process of preparing, planning and moving YP from paediatric to adult services. This should be a gradual process, to enable the YP, and those involved in their care...

Background: Growth delay is a common cause of consultation in pediatric practice and can be an early indicator of an underlying pathological process. As aetiological treatments (hormone therapy, special diets, etc.) have been routinely available for decades, it has become ethically challenging to conduct prospective randomised trials to test the efficacy of updated clinical approaches.Objectives: To assess the influence ...

Background: Achondroplasia is a genetic disorder that belongs to a large group of skeletal dysplasias that is caused by a missense mutation in the gene encoding FGFR-3 resulting in its constitutive upregulating. This interferes with the receptor's tyrosine kinase domain causing inhibition of cartilage tissue cells and the formation of abnormalities in the bone growth plate leading to defective skeletal development and a disproportionately short stature wi...

Background: Approximately 5 % of children are born SGA (birth weight/length below -2 SDS), anyway most experience an early spontaneous catch-up growth (CUG). About 15 % remain short during childhood and end up as short adults. Growth hormone (GH) treatment in general improves their growth.Objectives: We analyzed growth patterns in four SGA cohorts from two large databases: Those with spontaneous CUG, those who failed to ...

Background/Objectives: Neurofibromatosis 1 (NF1) is a dominantly inherited genetic disorder, caused by germline pathogenic variants in NF1 gene. The protein product of NF1 is neurofibromin, which acts as a tumor suppressor protein regulating the RAS signaling pathway. We describe the mutational spectrum and clinical presentation of NF1 children, which will aid the understanding of genotype-phenotype correlations.<strong...

Background: The long-acting growth hormone (LAGH) somatrogon has been found to be as effective and safe as daily somatotropin in the treatment of children with GH deficiency (GHD). Somatrogon administered once weekly has the potential to improve treatment adherence and height prognosis.Objective: We aimed to evaluate the first real-life data on somatrogon therapy, which was launched in Türkiye in October 2023.<p...

Introduction: Prader-Willi syndrome (PWS) is a genetic condition characterized by a complex hypothalamic dysregulation of the growth hormone/insulin-like growth factor (GH/IGF) axis, short stature, obesity, reduced muscle mass and impaired quality of life. The risk of obstructive sleep apnea (OSA), central hypoventilation (CHV) and sleep-disordered breathing (SDB) are the major causes of morbidity and mortality in these patients....

Introduction: Recombinant human growth hormone (rhGH) has been pivotal in growth hormone (GH) therapies for children since its approval for paediatric growth hormone deficiency (PGHD). The recent introduction of long-acting growth hormone (LAGH) represents a further advancement in GH therapy, demonstrating equal efficacy compared to daily GH with the added benefit of decreased injection frequency. Clinical trials have underscored the effectiveness and safety o...

Introduction: Growth failure represents a clinical challenge in children with chronic kidney disease (CKD). rhGH proved to be effective to enhance growth in patients (p) under conservative treatment (CT), dialysis (D), or after renal transplantation (RT).Aims: To report the results of rhGH treatment (GHT) in pediatric patients with CKD over the last 30 years in a single pediatric tertiary center. Study rhGH effectiveness...