Endocrine Abstracts

Background: Mutations in the ACTH receptor (MC2R) gene or in its melanocortin accessory protein (MRAP) gene disrupt receptor expression, signaling, and constitutive activity of the MC2R, leading to familial glucocorticoid deficiency (FGD) type 1 and type 2 respectively. FGD is a life-threatening, rare autosomal recessive disorder characterized by impaired cortisol synthesis and classically preserved mineralocorticoid production. There have also been described other mutations t...

Introduction: Hypothalamic–pituitary–adrenal (HPA) axis activation is the main neuroendocrine response to an environmental challenge. Drug abuse may activate HPA axis by interaction with neuromodulation systems.Case report: 28 year old man, was admitted in the Neurology Department for persistent headache with spinal irradiation. With suspicion of multiple sclerosis, MRI revealed pituitary macroadenoma (14 mm diameter) and subcortical, paraventr...