Abstract
Abstract Adrenal insufficiency is a rare and potentially fatal medical condition. In children, the cause is often genetic. With the increasing availability and reducing cost of next generation sequencing, the number of causative gene mutations that give rise to adrenal insufficiency (isolated or as part of a syndrome) has increased dramatically. Defects in ACTH signalling, steroidogenesis, antioxidant mechanisms, DNA replication/repair, and autoimmunity have all been described to cause primary adrenal insufficiency, while those affecting pituitary development and POMC synthesis, processing, and transcription give rise to secondary forms of adrenal insufficiency. As well as enhancing our understanding of pituitary/adrenal gland biology these discoveries have yield generated important insights into the tissue and temporal specificity of several fundamental cellular processes.
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