Addison disease

Definition:

Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adrenal cortex, resulting in insufficient production of glucocorticoids, mineralocorticoids, and adrenal androgens. Although tuberculosis remains a significant cause in developing countries, autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Symptoms are gradual and worsen over a period of years, making early diagnosis difficult. Treatment for Addison disease consists of lifelong hormone therapy with glucocorticoids and mineralocorticoids.

References:

[1]. Catherine Napier, et al. Current and emerging therapies for Addison's disease. Curr Opin Endocrinol Diabetes Obes. 2014 Jun;21(3):147-53. [Content Brief]

[2]. Y H Zhang, et al. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet. 1998 Apr;62(4):855-64. [Content Brief]

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