Adrenal Insufficiency

The adrenal glands, located on top of the kidneys, produce steroid hormones that regulate critical bodily functions, including blood sugar, sodium, and potassium levels, and help the body respond to stress, such as illness or injury. In adrenal insufficiency, these glands do not produce adequate levels of these essential hormones, which can be life-threatening if not properly managed. Fortunately, adrenal insufficiency, an aspect of adrenoleukodystrophy (ALD), can be effectively treated with daily steroid replacement therapy, with dosage adjustments made during periods of stress or illness.

Given the high prevalence of adrenal insufficiency in individuals with ALD, regular monitoring is crucial, and consulting an endocrinologist is recommended. Although the condition is manageable with oral medications, failure to promptly recognize and treat adrenal insufficiency can lead to an adrenal crisis—a severe and potentially life-threatening situation characterized by symptoms such as very low blood pressure, fainting, altered mental status, and seizures. Therefore, it is essential for patients and caregivers to understand the importance of stress-dosing steroids during illness or major injuries to prevent such crises.

The international expert consensus paper and this endocrine-specific management paper provide clear recommendations for monitoring adrenoleukodystrophy (ALD) patients. All boys and men with ALD should be monitored for adrenal insufficiency with cortisol and ACTH measurements, beginning in the first 6 months of life if possible. Current guidance recommends that if a male patient does not have adrenal insufficiency, their ACTH and cortisol levels should continue to be monitored every 3-6 months for the first ten years of life. After that, patients should still be monitored at least yearly. Current guidelines suggest that no adrenal monitoring needs to occur for girls or women, as adrenal insufficiency is very rare in females with ALD.

Adrenal insufficiency is treated with steroid medications, typically hydrocortisone, taken 2-3 times daily. In some cases, fludrocortisone may also be prescribed. Dosage adjustments may be necessary during periods of stress or illness, a process known as “stress dosing,” as guided by the patient’s endocrinologist. In emergency situations such as an adrenal crisis, patients and families should be familiar with the use of emergency hydrocortisone sodium succinate injections. It is recommended that patients wear emergency identification bracelets indicating their dependence on steroids. Additional emergency planning includes creating an emergency action plan (examples in this publication), obtaining an emergency letter from the endocrinologist for use at local hospitals, and understanding local emergency medical technician (EMT) policies for administering emergency injections (for state-specific information, visit caresfoundation.org).