ea0003p131 | Endocrine Tumours and Neoplasia | BES2002
Cosgrove K
, Barnes P
, O'Brien R
, Natarajan A
, Lee A
, Shepherd R
, Gonzalez A
, Hussain K
, Clayton P
, Aynsley-Green A
, Lindley K
, Rahier J
, Glaser B
, Dunne M
Hyperinsulinism in Infancy (HI) is the most common cause of recurrent or persistent hypoglycaemia in early childhood, and manifests as either diffuse abnormalities of pancreatic beta-cell function (Di-HI), or focal adenomatous hyperplasia of beta-cells (Fo-HI). Di-HI is caused by defects in KATP channel genes ABCC8 (SUR1) or KCNJ11 (Kir6.2). Fo-HI arises from somatic loss of maternal heterozygosity resulting in the expression of paternally-derived mutation(s) in SUR1 or Kir6.2...