Endocrine Abstracts

The adrenocorticotrophin hormone (ACTH) receptor, also known as the melanocortin-2-receptor (MC2R), is a key mediator of cortisol synthesis in the adrenal gland. Over 40 loss-of-function MC2R mutations have been described to give rise to familial glucocorticoid deficiency type-1 (FGD1). In contrast, to date only one naturally occurring gain-of-function mutation, F278C, has been identified in a patient with ACTH-independent Cushing’s syndrome. Previous work has demonstrate...

Background: The hypothalamus-pituitary-adrenal axis (HPA) controls the neuroendocrine response to psychological and physiological stress. The balance of the hormones synthesised and secreted by these organs is tightly regulated. However, there are intrinsic differences in the relative expression of these hormones depending on sex, which can influence the magnitude of the endocrine response to stressors or the response to pharmacological treatments. Herein, we ...