ESPE Abstracts

Background: The NPR2 gene plays a critical role in the human growth plate. Pathogenic NPR2 variants can result in varying degrees of short stature. The majority of subjects have no specific clinical findings and are likely classified as idiopathic short stature.Objective: To describe the phenotypic spectrum, analyze genotype-phenotype correlations and assess the response and safety of growth hormone (GH...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Introduction: Health related Quality of Life (QoL) outcome is used as an argument when continuation or stopping growth hormone (GH) treatment is considered in patients with idiopathic isolated growth hormone deficiency (IIGHD) who tested GH sufficient in mid-puberty (inclusion moment for this study).Aim: To assess potential differences in QoL between patients with IIGHD who discontinued treatment and those who continued ...

Hypophosphatasia is a congenital disease, characterized by a defect in bone and dental mineralization, secondary to a deficiency in the biosynthesis of the non-specific tissue isoenzyme of bone, liver and kidney alkaline phosphatase (TNSALP). Clinical phenotype varies with age and its clinical expression is sometimes very latent. There is a small but significant number of pediatric patients NOT diagnosed with hypophosphatasia. The values of low phosphatases may go unnoticed in...

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

Background: Extracorporeal shock wave therapy (ESWT) is widely used in the clinic for non-union of fractures. However, effect of ESWT on longitudinal bone growth has not been well studied. We explored the in vitro and in vivo effects of low/high dose radial shock wave treatment (SWT) on growth plate (GP) cartilage. A positive or negative effect on growth could be harnessed for therapeutic growth modulation while no change establishes safety.<p class="abst...

Background: Adrenal insufficiency in children is rare and potentially serious because of the risk of acute adrenal insufficiency. This complication is lethal in the absence of prompt and appropriate treatment. Aetiologies are dominated by the genetic causes.Objective and hypotheses: Report diagnostic circumstances,phenotypic forms and causes of adrenal insufficiency in children and adolescents.Method: This is a retrospective study ...