ESPE Abstracts

To date, knowledge of population dynamics and its repercussions on health required complex, long and expensive field studies. Big data tools are nowadays postulated as a tool of first magnitude for weighted population changes observed in real time if reliable sources of collection and adequate mathematical and computer tools for their assessment are available.Main Objective: To evaluate, using big data tools, whether there have been sign...

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...

Objective: To evaluate the improvement of Final Adult Height FAH) in adolescent idiopathic short stature boys treated with third-generation aromatase inhibitors (AI), letrozole and anastrozole combined with growth hormone, and to compare the efficacy and safety of long-term treatment with letrozole and anastrozole in childhood.Method: This study collected data from 105 adolescent boys with idiopathic short stature (ISS) ...

Background: The Global Increlex® Registry (NCT00903110) monitors real-world safety and effectiveness of recombinant human insulin-like growth factor (rhIGF-1; Increlex® [mecasermin]) in severe primary IGF-1 deficiency (SPIGFD). Patient characteristics, effectiveness and safety data from 2008–2023 are described.Methods: Descriptive analyses of registry data from children/adolescents age...

Background: Osteocalcin, a metabolic active hormone, correlates to bone formation and inversely to BMI and waist circumference in adults.Objectives: To investigate whether osteocalcin in infancy and early childhood is related to childhood growth or body composition.Methods: A Swedish longitudinal birth cohort of 551 children, gathered blood samples from birth until 5 years of age t...

Purpose: Prader-Willi syndrome is a rare genetic neurodevelopmental condition characterized by cognitive disabilities, behavioural problems, hypothalamic dysfunction with obesity and sleep disorders. A few studies have reported autonomic nervous system dysfunction. Our aim was to investigate in details dysautonomia combining sleep studies and standard autonomic testing in children with Prader-Willi syndrome regularly followed.Met...

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...

Growth failure is the gateway to a myriad of childhood and adolescent diseases. In the majority of cases, growth retardation is said to be constitutional after a detailed diagnostic evaluation. In the literature, there is a high degree of heritability of height (> 80%), underlining the predominant role of genetic factors.Objective: To identify new causes of growth retardation in 61 patients with constitutional familial short stature b...

Introduction: Idiopathic short stature (ISS) is characterized by a reduced height (at least 2 standard deviation scores [SDS]) from expected norms based on age, sex, and population-specific height standards in the absence of growth hormone (GH) deficiency or other known etiologies. ISS is a registered indication for GH therapy in USA but not in Europe. The psychosocial burden of ISS remains underexplored, including its impact on quality of life. Using National...

Introduction: Turner syndrome (TS) significantly impacts the reproductive lifespan of affected girls due to premature ovarian insufficiency (POI). To improve fertility counseling for (parents of) girls with TS, it is important to predict the ovarian reserve at an early age. However, this is challenging since data on longitudinal hormone parameters related to ovarian function are scarce. This study aims to initiate a first step towards a prediction model for ov...