What are the diagnostic considerations in the workup of pediatric adrenal insufficiency (Addison disease)?

Updated: Dec 07, 2018
  • Author: Kimberly Tafuri, DO; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Clinical suspicion is important because the presentation of patients with adrenal insufficiency (Addison disease) may be insidious and subtle. The current tools for the diagnosis of adrenal insufficiency are likely inadequate, because they rely on measurement of total cortisol levels rather than free or unbound cortisol.

Subjects with critical illness, particularly premature infants, often have low serum albumin and transcortin concentrations, leading to low total serum cortisol concentration. This issue needs to be revisited when sound methods for measurement of free cortisol become available.

Provision of stress steroids in critically ill patients should be reserved for those who have a preexisting or concurrent reason for adrenal insufficiency (ie, history of adrenal insufficiency, previous chronic glucocorticoid exposure, etomidate exposure) or for those who have hypotension that is unresponsive to adequate fluid administration and catecholamines. [41, 42]

Wolman disease (OMIM 278000), an autosomal recessive disorder caused by a deficiency of lysosomal acid lipase, may present with adrenal calcifications that may be seen on plain radiography or computed tomography (CT) scanning of the adrenal glands.


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