Searchable abstracts of presentations at key conferences in endocrinology
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38th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Speaker Abstracts

Catherine Hall Memorial Lecture

ea0024s20 | Catherine Hall Memorial Lecture | BSPED2010

Catherine Hall Memorial Lecture: Congenital hyperinsulinism and DOPA-PET CT

Skae M

Congenital hyperinsulinism of infancy (CHI) is a rare disorder of insulin dysregulation, resulting in persistent hypoglycaemia and its sequelae. More than half of patients have loss-of-function mutations in ABCC8 or KCNJ11 genes encoding subunits of ATP-sensitive potassium (KATP) channels. Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic loss of maternal heterozygos...