Searchable abstracts of presentations at key conferences in endocrinology

ea0021oc2.7 | Neuroendocrine tumours/pituitary | SFEBES2009

The spectrum of disease in diazoxide responsive hyperinsulinaemic hypoglycaemia

Skae Mars , Amin Rakesh , Patel Leena , Gleeson Helena , Ehtisham Sarah , Didi Mohammed , Blair Jo , Das Urmi , Rigby Lindsey , Blankenstein Oliver , Ellard Sian , Kelsey Anna , Clayton Peter , Banerjee Indraneel , Hall Catherine

: Hyperinsulinaemic hypoglycaemia (HH) has traditionally been classified according to clinical response to diazoxide, with milder diazoxide responsive (DRHH) and severe unresponsive cases. Loss-of-function mutations in ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11), are the commonest cause for HH. In severe HH, genetic analysis and pancreatic imaging assist in differentiating diffuse from focal forms of HH, as the latter may be cured b...