ESPE Abstracts

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...

Introduction: Both poor and optimal metabolic control of type 1 diabetes mellitus (T1DM) in children can impact longitudinal growth. A decrease in insulin-like growth factor (IGF)-I and its binding protein 3 (IGFBP3) has been described in these patients. New growth regulatory factors [pappalysins (PAPP-As) and stanniocalcins (STCs)] could modulate the bioavailability of IGFs by regulating the concentrations of intact and free IGFBPs.<str...

Background: Short stature has been associated with a reduction in health-related quality of life (HRQoL) and more problem behavior in children and adults. In adolescents who were treated with growth hormone (GH) because of persistent short stature after being born SGA, an increase in HRQoL and decrease in behavioral problems was seen during or right after cessation of GH-treatment. However, long-term data, to analyze if these positive effects remain many years...

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...

Background: Coeliac disease(CD)is a common cause of stunted growth. Despite adherence to gluten-free diet(GFD), short stature may persist in some patients with CD. Studies investigating the growth hormone(GH)-insulin like growth factor-1(IGF1) axis in children and adolescents withCDare scant and inconclusive. Fibroblast growth factor-21(FGF-21)is a181amino acid polypeptide that plays a role in growth, lipid and glucose metabolism. The inhibitory effects of FGF...