Searchable abstracts of presentations at key conferences in endocrinology

ea0036P61 | (1) | BSPED2014

Challenges of managing a 9-month old child with congenital hyperinsulinism within a secondary care setting

Chinoy Amish , Da Costa Alexandra Rodrigues , Ismail Dunia

Introduction: Congenital hyperinsulinism (CHI) typically presents in the neonate, however a minority of cases (~ 35%) present later in infancy and childhood. We report the challenging case of an older infant presenting with hypoglycaemia, diagnosed with CHI and managed entirely within a secondary care setting.Case report: A 9-month-old macrosomic (99th centile) infant presented to the Children’s Emergency Department with hypoglycaemia and a 1 week h...

ea0027oc3.4 | Oral Communications 3 | BSPED2011

The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith–Wiedemann syndrome due to KvDMR1 hypomethylation

Ismail Dunia , Shipster Caroleen , Beesley Clare , Hussain Khalid

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes. It is due to genetic and epigenetic mechanisms affecting the balance of imprinted genes on chromosome 11p15.5. This region has two imprinted control regions, ICR1 and ICR2. ICR1 contains the genes H19 and IGF2 genes with H19 being maternally expressed and IGF2 paternally expressed. ICR2 contains the KCNQ1, KCNQ1OT1, and CDKN1C genes. Hypomethylation of KvDMR1 (an...

ea0027oc3.2 | Oral Communications 3 | BSPED2011

Clinical, genetic, histological and radiological heterogeneity of focal forms of congenital hyperinsulinism

Ismail Dunia , Kapoor Ritika , Smith Virpi , Ashworth Michael , Blankenstein Oliver , Pierro Agostino , Flanagan Sarah , Ellard Sian , Hussain Khalid

Congenital hyperinsulinism (CHI) is a cause of severe and persistent hypoglycaemia due to unregulated insulin secretion from pancreatic β-cells. Mutations in the ABCC8 and KCNJ11 genes are the most common cause of medically unresponsive CHI. Histologically there are three major subgroups, focal, diffuse and atypical. The pathophysiology of focal CHI is complex and involves a two hit process with the patient firstly inheriting a paternal ABCC8/KCNJ11 m...

ea0027p83 | (1) | BSPED2011

Galactokinase deficiency in a patient with congenital hyperinsulinism: the cautionary tale of using bedside blood glucose monitors

Bayarchimeg Mashbat , Ismail Dunia , Lam Amanda , Burk Derek , Kirk Jeremy , Hogler Wolfgang , Flanaghan Sarah , Ellard Sian , Hussain Khalid

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period.Aims: To report the diagnostic pitfalls with bedside blood glucose testing in a neonate with combined ...