ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

Background: Patients who present with clinical and laboratory findings of pituitary dysfunction and whose MRI findings reveal increased pituitary size or thickening of pituitary stalk, pose a diagnostic challenge. The differential diagnosis mainly includes dysgerminoma, histiocytosis, and hypophysitis. A non-invasive approach is often non-diagnostic.Objective and hypotheses: To present two patients with similar clinical picture and positive MRI findings,...

Gestational Diabetes (GDM) increases risk of developing type 2 diabetes in the mother and child later in life however, despite the increasing prevalence of GDM, its molecular mechanism remains unknown. A recent Genome-Wide Association Study (GWAS) identified a unique genetic association of the novel 5th hexokinase, hexokinase domain component-1 (HKDC1) to gestational glucose tolerance at 28 weeks of gestation linking it to GDM. We have previously shown that liver-specific over...

Background: Obesity in childhood and adolescence represents a major health problem and its management requires a multidisciplinary approach.Objective and hypotheses: To assess the main eating habits of children and adolescents attending an Out-patient Clinic for the Prevention and Management of Overweight and Obesity in Greece, as recorded before implementing any intervention.Method: We studied 1005 children and adolescents [age ra...

Background: Vertebral changes such as biconcave end plate depressions are well described in children with sickle cell disease (SCD). However, as vertebral height reductions are a marker of osteoporosis in children, we aimed to determine whether these could present underlying osteoporosis, by performing transiliac bone biopsies in two patients.Case 1: A 13-year-old female with SCD, presented with back pain. She had delaye...

Children with sickle cell disease (SCD) often suffer from back pain and present with vertebral changes, but the use of bisphosphonates is poorly reported. We present our experience on treating six children with SCD with Zoledronate in a tertiary paediatric endocrinology and haematology centre.Population: Six children with SCD were treated with zoledronate infusions between the years 2016-2021. All children had a history of significant mi...

Background: Chemerin, a protein mainly synthesized in the adipose tissue and liver, belongs to the adipokines family and is implicated in signaling for adipocyte differentiation and lipolysis. From this point of view, chemerin can exert an important role in the regulation of various pathophysiological functions, including lipogenesis and metabolism.Objective: The aim of this study was to investigate the relationship betw...

Background: In premature adrenarche (PA) children bone age (BA) may be greater than chronological age (CA), however final height is usually within target height (TH).Objective and hypotheses: Aim of the study was to evaluate the evolution of BA in girls with PA.Method: We studied retrospectively the files of 60 girls with PA followed in our unit. Anthropometric data and Tanner pubertal status were determined in each visit and BA wa...

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...