ESPE Abstracts

Introduction: Vosoritide is licensed by EMA for the treatment of children with achondroplasia above 4 months of age in 2023 (initial approval for children above 2 years in 2021). The CNP analogue modulates enchondral bone growth and improves growth velocity. Response to therapy varies between individuals. Nineteen European centers enter auxological and diagnosis-specific data into the achondroplasia module of the CrescNet® registry to monitor treatment. We...

Introduction: Subclinical hypothyroidism (SH) in children and adolescents is a condition characterized by elevated thyroid-stimulating hormone (TSH) levels with normal serum free thyroxine (T4). The clinical significance and natural course of SH remain subjects of debate, necessitating a review of the literature to guide management decisions.Methods: This review analyzed ten studies, encompassing both observational cohor...

Introduction: Children with growth hormone (GHD) often exhibit unique patterns in glucose and insulin metabolism, which could potentially deteriorate upon receiving GH therapy. This therapeutic intervention, while crucial for promoting normal growth, may inadvertently influence the intricate balance of glucose homeostasis and insulin sensitivity,Methods: We reviewed and analyzed 12 studies based on their relevance, in ch...

Sex-steroid hormones such as testosterone and estradiol play a key role in sexual differentiation during gestation but exert also strong effects on the body and the brain during puberty or even in adulthood. In addition, influences on cognition and emotional processing are frequently reported. The investigations of transgender people undergoing cross-sex hormone therapy provide a unique model for studying those effects on gray and white matter brain structure in vivo by using ...

Introduction: Idiopathic short stature (ISS) and growth hormone deficiency (GHD) are conditions that can result in various cognitive and behavioral abnormalities. Functional Magnetic Resonance Imaging (fMRI) is a valuable tool for investigating brain functional connectivity and maturity, offering insights into the neurological underpinnings of ISS and GHD. This review summarizes fMRI findings and their clinical associations, highlighting differences in brain m...

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

Introduction: Children born small for gestational age (SGA) are susceptible to abnormal glucose metabolism and insulin resistance, which may be exacerbated by (GH) therapy.Methods: A comprehensive analysis of existing literature was conducted to assess the outcomes and implications of GH treatment in this specific pediatric population.Results: 10 studies were reviewed, (1458 SGA ch...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

Introduction: The prevalence of obesity in children and adolescents is increasing globally, prompting investigations into its effects on various health parameters, including thyroid function.Aim of the Review: To elucidate the relationship between obesity and thyroid function in the pediatric population through a review of recent studies.Review Results: Analysis of studies involvin...

Background: Thyroxine (T4) is critical in regulating growth and developmental processes. This review synthesizes 20 studies to examine thyroxine's effects on linear growth and development.Methods: A comprehensive review of the last two decades' research articles was conducted, selecting studies that examined thyroxine therapy on growth, development, and metabolic regulation in hypothyroid pediatric populations....