Endocrine Abstracts

Pro-opiomelanocortin (POMC) deficiency in mice and humans results in a syndrome of severe obesity, hyperphagia and adrenal insufficiency. We have used mice heterozygous for a null mutation in the Pomc allele (Pomc+/-) to determine if POMC haploinsufficiency results in disordered energy homeostasis or adrenal hypofunction.When fed standard lab diet (SLD, 4.5% fat) Pomc+/-were similar in weight to wild type (WT) mice thr...

Glucokinase (GCK) serves as the blood glucose ‘sensor’ in pancreatic β-cells, being critically involved in transducing elevated blood glucose into increased insulin secretion. Inactivating GCK mutations cause a subtype of maturity onset diabetes of the young (MODY), whereas activating mutations are a rare cause of hyperinsulinaemic hypoglycaemia, usually presenting in infancy.We now describe the case of a 60-year-old woman who first presen...