Endocrine Abstracts

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to the action of ACTH leading to glucocorticoid deficiency with preserved mineralocorticoid and gonadal function. In 1993 we identified mutations in the ACTH receptor (melanocortin 2 receptor; MC2R), although these only explained around 25% of cases. More recently a traditional homozygosity mapping approach identified mutations in a novel gene which we named melan...

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...

Attenuation of the adrenocortical response to ACTH in septic shock is a well recognised phenomenon, although the underlying mechanisms remain poorly understood. The evidence points towards factors in septic serum that dampen the adrenocortical responsiveness. The aim of this work is to investigate the cellular function of adrenocortical cells in septic shock and to determine the components within serum that could influence their function. Septic rat serum was collected from ma...