ESPE Abstracts

Background: Prohormone convertase is an enzyme that converts many biologically inactive prohormones into biologically active peptides. Its deficiency is characterized by deficiency of variable levels in all the hormone systems. In relation to this, postprandial hypoglycemia has been reported but, a case of prohormone convertase deficiency presenting with a diagnosis Type 2 diabetes mellitus has not been previously reported.Case p...

Introduction: Hyperinsulinemic hypoglycemia is one of the most common causes of severe and persistent hypoglycemia in neonates and children. Early diagnosis and appropriate treatment prevent brain damage due to recurrent hypoglycemia. Genetic examination often can guide the treatment. The most common affected genes are the ABCC8 and KCNJ11 genes, which encode the SUR1 and Kir6.2 KATP channels, respectively. Here, a neonate with a novel variant in AB...

Background: Laron syndrome (LS) is a disorder of primary growth hormone (GH) resistance caused by genetic defects in GH and insulin-like growth factor 1 (IGF-1) axis. Here, we present the variable clinical spectrum in two sibling cases of Iraqi Arab origin with GH receptor (GHR) mutation.CASES: Two siblings referred to our clinic with the chief complaint of short stature. They had been born with a normal weight at term.Their parents were...