ESPE Abstracts

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...