ESPE Abstracts

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. Although CHI arises from mutations in KATP channels which lead to inappropriate insulin secretion, CHI it also is associated with marked changes in islet organization.Aims and objectives: Our aim was to investigate the structure and composition of the islet capsule in CHI and age-matched control tissue.Me...

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis. Our aim was to investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Methods: Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008 and 2010 from 94 children who were undergoing...

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

Background: Atypical forms of congenital hyperinsulinism in infancy (CHI-A) represent a novel subgroup of patients who present later in the neonatal period; have poor responses to medical intervention; an unremarkable histopathology and no known genetic cause of disease.Objective and hypotheses: To compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.<p clas...

Background: Congenital hyperinsulinism in infancy (CHI) is a neonatal disorder of uncontrolled insulin release leading to profound hypoglycaemia. In addition to defects in pancreatic β-cell function, we have recently demonstrated that the CHI pancreas is highly proliferative, with rates of proliferation up to 14-fold higher than in age-matched controls.Objective and hypotheses: As patients require pancreatectomy to alleviate hypoglycaemia, our aim w...

Background: Diffuse congenital hyperinsulinism in infancy (CHI-D) mainly arises from mutations in KATP channel genes. In addition, there are also several reports of increased cell proliferation in CHI-D. We hypothesised that the higher rates of proliferation in CHI-D are as a consequence of failure to terminate proliferation in the neonatal period.Objective and hypotheses: To test this we examined the proliferative index (PI) of CHI-D tissue a...

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

Introduction: Congenital Hyperinsulism (CHI) is a common cause of recurrent and persistent hypoglycemia in the neonatal period. Diazoxide is the first line medication used for the management of CHI. We report the clinical profile and the management outcome of a large cohort of patients with diazoxide responsive CHI.Methodology: A retrospective data collection including antenatal, perinatal and postnatal clinical parameters, laboratory di...

Introduction: Short stature is frequently caused by SHOX variants causing functional deficiency. SHOX resides in the pseudoautosomal region (PAR1) of the sex chromosomes and SHOX/enhancer alterations result in a broad phenotypic range: from Langer mesomelic dysplasia, Léri-Weill dyschondrosteosis to idiopathic short stature (ISS). Growth hormone (GH) therapy is indicated for those individuals with short stature due to SHOXdeficiency. A frequent limitati...