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 ChildrenÂ’s Emergency Department with hypoglycaemia and a 1 week h...

ea0051oc5.3 | Oral Communications 5 | BSPED2017

Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology

Da Costa Alexandra Rodrigues , Meimaridou Eirini , Prasad Rathi , Metherell Louise A. , Chapple J. Paul , Storr Helen L.

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADINÂ’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...