Endocrine Abstracts

Introduction: We have reported a syndrome of hypoketotic hypoglycaemia due to the de novo p.Glu17Lys mutation in AKT2, a serine threonine kinase central to insulin signalling. We aimed to evaluate further the physiological and cellular consequences of the p.Glu17Lys mutation.Results: Two previously reported 17-year-old men heterozygous for the AKT2 p.Glu17Lys mutation, each of whom had experienced severe fasting hypoglycaemia in early life, were...

GH-secreting pituitary adenomas are by far the commonest cause of acromegalic soft tissue overgrowth. However the differential diagnosis includes pseudoacromegaly in rare patients with severe insulin resistance, with or without lipodystrophy, and some congenital overgrowth syndromes such as Sotos’ syndrome, due to mutations in the NSD1 gene. We now report the case of two siblings, born to non consanguinous, clinically unaffected Europid parents, with childhood over...