ESPE Abstracts

Introduction: Diagnosis of growth hormone (GH) deficiency is known to have unreliable results, especially due to low specificity of GH stimulation tests. Children diagnosed with GH deficiency (GHD) therefore form a heterogeneous group with a cause frequently unrelated to GH secretion or function. On the other hand, children with extremely low maximal stimulated GH concentrations (<3 ug/L) are believed to have “real” GH deficiency (GHD). However,...

Background: Numerous studies have highlighted the importance of measuring and achieving optimal adherence to growth hormone treatment in patients with growth disorders. However, there is still a paucity of research on how treatment adherence can be improved in patients with suboptimal adherence.Aim: To classify the causes of suboptimal adherence and collaborate with patients and caregivers to improve adherence.<p cla...

Background: Several criteria for growth response to growth hormone (GH) therapy have been developed. These include height velocity (HV), height standard deviation score (HSDS), ΔHV, and ΔHSDS. Other parameters considered as predictors of growth response include age at start, weight SDS, GH dose, and target height SDS. Among these, the two most important parameters to predict future height before treatment start are HSDS and age.<p class="abstex...

Background: The Growzen™ Buddy app was developed to improve adherence to recombinant human growth hormone (r-hGH) therapy among patients with growth disorders. This app sends alerts for injection timings and allows patients and their caregivers to self-monitor growth, develop a treatment routine, improve adherence, and ultimately take ownership of treatment outcomes. The app also contains a library of educational resources designed to empower patients to...

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...

Introduction: Brachydactyly mental retardation syndrome (BDMR, #MIM600430) is a rare genetic disorder caused by deletions in 2q37 region, characterised by intellectual disability, facial features, and skeletal abnormalities. This case delineates the clinical progression and growth hormone (GH) therapy response of a patient with a unique phenotype resulting from an unbalanced derivative of a paternal balanced translocation, leading to a 2q37 deletion and 14q32 ...

Introduction: Guidelines recommend starting growth hormone (rhGH) as soon as possible in pathological short stature to promote growth and normalize final height. Despite efficacy and safety of rhGH, about 70% of patients have poor adherence to treatment, with consequently reduced therapeutic response. Somatrogon, a weekly long-acting GH (LAGH), may improve the therapy compliance and efficacy, reducing the number of injections. Despite it has been demonstrated ...

Background: Growth hormone (GH) is a well-known factor affecting bone mineral density (BMD). Adults with GH-deficiency exhibit lower BMD, which improves with treatment. However, to date, little is known about the effects of GHD (growth hormone deficiency) on BMD as well as about BMD in idiopathic short stature (ISS) prepubertal children - who remain short, despite normal GH concentrations in stimulation testing.Aim: The ...

Background: Next generation sequencing (NGS) has recently been proposed as a primary diagnostic tool in the work-up of children with idiopathic short stature (ISS) and born small for gestational age (SGA). The main limitation of a multi-gene approach is represented by the difficulty in the interpretation of VUS clinical significance.Aim: To identify and characterize genetic variants in a cohort of children born SGA and I...

Objective: Peak stimulated growth hormone (GH) levels are lower in overweight and obese subjects and it has been suggested that results of tests should be adjusted for body mass index (BMI). The study aimed - A. To evaluate the association between growth hormone peak levels and body mass index (BMI) in a single center. B. To discuss the biological and clinical significance of the findings and make recommendations based on a literature review.<p class="abst...

Introduction: A condition that causes strong inhibition of growth hormone (GH) secretion is, among others, hyperglycemia; this phenomenon is used in the diagnosis of suspected GH excess by performing a GH inhibition test after oral administration of glucose (OGTT). In a healthy adult, it has been established that the nadir of GH concentration should not exceed 1 ng/ml (0.4 ng/ml in the case of sensitive tests). It is unclear whether the same standards should a...