The adrenal glands produce steroid hormones that are essential for survival. Therefore, primary adrenal insufficiency can be a life threatening condition, especially under stressful stimuli. Early diagnosis and appropriate management of the adrenal insufficiency is of key importance in clinical practice. Recent advances in the molecular mechanisms of the different genetic causes of primary adrenal insufficiency has allowed a better understanding not only of the pathophysiology but also the physiology of the adrenal gland. This review presents clinical and molecular aspects of primary adrenal insufficiency of genetic etiology.
Adrenal insufficiency; Molecular basis; Mutations