IMPE Abstracts

Insulin-like growth factor 1 (IGF1) plays key roles in promoting growth, during both pre- and post-natal life and regulating neurologic development in mammals. IGF1 gene mutations are extremely rare causes of pre- and post-natal growth retardation. Phenotype can be heterogenous with varying degrees of neurosensory deafness, cognitive defects, glucose metabolism impairment and short stature. We have previously described two patients with novel homozygous IGF1missense v...

Purpose: Insulin-like Growth Factor (IGF)1 gene mutations are extremely rare causes of pre- and post-natal growth retardation. Phenotype can be heterogenous with varying degrees of neurosensory deafness, cognitive defects, glucose metabolism impairment and short stature. This study describes a 12.6-year-old girl presenting severe short stature and insulin resistance, but with normal hearing and neurological development at the lower limit of normal. Methods: DN...

In pediatrics, thyroid tumor stratification is difficult to assess. Epithelial-mesenchymal transition (EMT), plays a role in tumor development. In human carcinomas Brachyury (Brachy) has been identified as a regulator of EMT associated to malignancy. The Insulin Like Growth Factors (IGFs) are mitogens that play important roles in both normal and neoplastic growth. To date, no information about Brachy and IGF1R expression in pediatric thyroid nodular disease is available.<p...

Background: Persistent hypoglycemia in pediatric patients is the clinical manifestation of different hormonal and metabolic disorders and expose them to a high risk of brain damage. Appropriate management should include staggered strategy to achieve the underlying etiology.Aim: To describe an infant with recurrent hypoglycemia due to Stage 4 Neuroblastoma (4SNB) behaving as an “IGF2-OMA”.<p class="abstext...

Introduction: Short Stature (SS), defined as height below -2 SD, is a common reason for referral to pediatric endocrinologists. Genetic factors determine ~80% of adult height. Lately, next-generation sequencing (NGS) has led to the discovery of an increasing number of novel monogenic causes for SS.Objective: The aim of this work was to identify the genetic etiology of SS of unknown origin (SSUO) in children.<p class=...