ESPE Abstracts

Aim: Evaluation of the results from the campaign GrowInform (2017-2019), a project with the main aim to raise awareness of growth disorders, and secondary aims to facilitate screening for growth deviations in children from areas with no easy access to pediatric endocrinologists, thus achieving earlier diagnosis and treatment.Methods: For 2 years (April 2017 to March 2018), GrowInform acted in 13 cities and towns from Eas...

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...

Background: IGF1 is the key effector peptide in the control of normal growth. IGF1 deficiency in the presence of normal GH is associated with growth failure. This may be caused by primary defects in the GH-IGF1 axis or by conditions such as malnutrition or chronic inflammation. Severe primary IGF1 deficiency (height <−3 S.D., serum IGF1 <2.5th centile, GH normal) is an European Medicines Agency (EMA) licensed indication for rhIGF1 therapy. We repor...

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth delay. The diagnostic criteria include age- and sex-dependent low basal IGF1 concentration (<2.5th percentile), height SDS < -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: 1) Report the growth pattern and pubertal status 2) Identify the molecula...