ALD and Adrenal Health: Monitoring and Everyday Care

What do the adrenal glands do?

The adrenal glands sit above the kidneys and make hormones the body needs. In primary adrenal insufficiency, the glands cannot make enough cortisol. Some people also have a shortage of aldosterone.

Cortisol

Helps the body respond to physical stress, such as illness or injury, and supports functions including blood pressure and blood sugar.

ACTH

A signal from the pituitary gland that tells the adrenal glands to make cortisol. ACTH is not made by the adrenal glands.

Aldosterone

Helps regulate salt and water balance. Not everyone with cortisol deficiency also needs aldosterone replacement.

Sources: NIDDK: adrenal insufficiency basics · NIDDK: hormone testing.

ALD can affect adrenal function separately from the brain. A reassuring MRI does not replace adrenal follow-up, and adrenal insufficiency does not itself mean that someone has cerebral ALD. These are separate parts of the care plan.

Sources: International ALD recommendations, 2022.

Who needs monitoring, and what does it involve?

The 2022 international ALD recommendations call for routine adrenal screening in boys and men with ALD, even when they have no symptoms. Those recommendations do not call for routine adrenal screening for girls and women, but possible symptoms in anyone need prompt evaluation.

Ask the endocrinologist when testing is due and how the plan changes with age, earlier findings, or symptoms. If an ALD diagnosis is still uncertain, ask what follow-up is appropriate while the results are being clarified. An uncertain screening or genetic result does not automatically establish adrenal insufficiency.

Sources: International ALD recommendations.

Understanding the tests

Cortisol and ACTH blood tests

Often measured together, usually in the early morning for routine ALD screening. The clinician interprets the pattern, collection time, and other findings.

ACTH stimulation test

Measures how cortisol responds after a synthetic ACTH medicine is given. It is different from measuring ACTH in a blood sample, and is not required at every monitoring visit.

Renin and electrolytes

Help the team assess salt balance and whether there may also be a mineralocorticoid deficiency.

A result outside a reference range needs interpretation, not a diagnosis from a single number. Ask for preparation instructions, including the timing of blood collection and what to do about any medicines. Do not withhold prescribed medicine unless the treating team instructs you to.

Sources: NIDDK: diagnosis · International ALD recommendations.

What changes should we mention to the care team?

Adrenal insufficiency can develop gradually. Ongoing tiredness or weakness, reduced appetite or weight loss, abdominal discomfort, dizziness, salt craving, or unusual skin darkening are among the symptoms worth discussing. These can have other causes, so a symptom list cannot establish the diagnosis.

Tell the care team promptly about new or persistent concerns. Planned blood monitoring is important even without symptoms. Ask which situations need a same-day call and which require immediate emergency care.

For suspected crisis or inability to keep prescribed steroid medicine down, use the emergency guidance at the top of this page rather than waiting for a routine visit.

Sources: NIDDK: symptoms and causes · Endocrine Society: warning signs.

If adrenal insufficiency is confirmed

An endocrinologist prescribes medicine to replace the missing hormones. Glucocorticoid replacement, often hydrocortisone, replaces cortisol. Some people also need mineralocorticoid replacement, depending on their test results and clinical assessment.

This is treatment for hormone deficiency; it does not treat cerebral ALD. Being monitored for adrenal insufficiency is not the same as being prescribed daily replacement. Ask the team to explain which situation applies now and what would change the plan.

If medicine is prescribed, ask for clear written daily instructions and separate instructions for illness and emergencies. Review the plan with the team as your child grows or care changes.

Sources: NIDDK: treatment · International ALD recommendations.

What belongs in an illness and emergency plan?

Illness, injury, or surgery can increase the body’s need for cortisol. Someone with adrenal insufficiency may need a prescribed adjustment to replacement medicine. The dose and timing belong in that person’s written plan; they should not be guessed from a general website.

Daily care

The medicine, dose, timing, refill arrangements, and whom to call with questions.

Illness or injury

When to follow sick-day instructions, the prescribed changes, and when to contact the team or seek urgent care.

Emergency care

When and how to use any prescribed emergency injection, where it is kept, who has been trained, and how to obtain emergency medical help.

Procedures

Instructions agreed by the endocrinologist and procedure team, including when fasting, sedation, or anesthesia is involved.

If an MRI with sedation or another procedure is planned, tell both teams about the adrenal diagnosis in advance. Ask who will provide the medicine instructions and make sure the teams have the same plan.

Ask about an emergency injection kit, hands-on training for caregivers, a steroid emergency card, and medical-alert identification. Having supplies is only part of the preparation; people who may need to help should know the plan.

Sources: NIDDK: illness and procedure planning · Endocrine Society: primary adrenal insufficiency guidance.

Making the plan work at home, school, and away

Once the medical team has written the plan, a few practical arrangements can make it easier to use. These are planning prompts to discuss with your team and caregivers.

• Keep information together. Have an accessible copy of the current plan, medication list, emergency contacts, and prescriber details.
• Include the right people. Discuss what parents, relatives, the school nurse, and other caregivers need to know and who needs training.
• Know where supplies are. Agree on access to prescribed emergency medication, who checks expiration dates, and how it accompanies the person when needed.
• Plan for changes in routine. Before travel, school trips, or an overnight stay, ask about supplies, documents, and access to emergency care.
• Review the plan. Update shared copies when the treating team changes instructions.

Our family life and school guide offers more starting points for support conversations.

Questions for the endocrinology visit

Understanding the findings

• Is adrenal insufficiency confirmed, or are we monitoring for it?
• What do cortisol and ACTH tell you together? Is more testing needed?
• When is the next test, how should we prepare, and who will explain the result?

If replacement medicine is prescribed

• What are our daily, sick-day, and emergency instructions?
• What should we do if medicine cannot be kept down?
• Do we need an emergency injection kit and medical-alert identification? Can every relevant caregiver practice with the team?
• What needs to happen before sedation, anesthesia, surgery, or another procedure?
• Who can we reach after hours, and how is endocrine care coordinated with the rest of the ALD team?

Before leaving, ask the team to talk through any part of the plan you would not feel confident following at home. It is fine to ask them to explain it again or watch you practice with training equipment.

A few terms you may hear

Endocrinologist

A doctor who specializes in hormones and the glands that make them.

Primary adrenal insufficiency

Hormone deficiency caused by a problem in the adrenal glands themselves.

Glucocorticoid replacement

Medicine that replaces cortisol when the body is not making enough.

Mineralocorticoid replacement

Medicine used when needed to replace aldosterone’s role in salt and water balance.

Stress dosing or sick-day dosing

A clinician-prescribed adjustment for physical stress such as illness or injury. The instructions should be specific to the person.

Sources: NIDDK: definitions · NIDDK: treatment.

Sources and further reading

The sources below informed this draft. Medical expert review is still pending.

• Engelen and colleagues: international ALD recommendations · Neurology, 2022; ALD-specific screening and adrenal care.
• NIDDK: adrenal insufficiency definitions and facts · Hormones and types of adrenal insufficiency.
• NIDDK: diagnosis of adrenal insufficiency · Blood testing and stimulation testing.
• NIDDK: symptoms and causes · Symptoms that need clinical assessment.
• NIDDK: treatment of adrenal insufficiency · Replacement, illness, procedures, and emergencies.
• Endocrine Society: adrenal insufficiency · Patient information, crisis warning signs, and medical-alert identification.
• Endocrine Society: primary adrenal insufficiency guideline · Clinical recommendations, including emergency preparation.