Signs and symptoms

Children with primary adrenal insufficiency may experience:

• Slow weight gain
• Fatigue and generalized weakness
• Low blood pressure
• Salt cravings

They may also appear unusually tanned or have darkened skin creases, gums and scars.

During an illness, such as an infection, the child may develop “adrenal crisis." Adrenal crisis usually starts with vomiting and may quickly progress to a severe illness associated with abnormally low blood pressure, low blood sugar, a salt/water imbalance, lethargy and shock.

Cause

Addison’s disease is the most common form of primary adrenal insufficiency, and most commonly occurs when the body’s immune system mistakenly attacks and damages the adrenal glands.

Primary adrenal insufficiency may also be caused by:

• Certain genetic diseases such as congenital adrenal hyperplasia or adrenal leukodystrophy.
• Various infections that can damage the adrenal gland.
• Bleeding in the adrenal glands.
• Surgery involving the adrenal glands.
• A decrease in ACTH, a hormone that regulates cortisol secretion, due to genetic conditions, tumors or infections around the pituitary gland in the brain.
• Long-term steroid therapy, such as hydrocortisone, prednisone or dexamethasone, which are used to treat rheumatology, severe asthma and immune conditions. These steroids can suppress the hypothalamic-pituitary-adrenal (HPA) axis.

Testing and diagnosis

Primary adrenal insufficiency is diagnosed with a special blood test that measures the amount of cortisol in the body.

Additional tests, such as Cortrosyn or CRH stimulation tests, may be done to better understand the ability of the body to produce cortisol or ACTH.

Your child’s doctor may also order imaging tests, such as X-rays, ultrasound or CT of the adrenal gland, or an MRI of the brain.

Treatment

Primary adrenal insufficiency is treated with cortisol replacement therapy given as a tablet daily. Patients who are unable to make aldosterone are also placed on aldosterone replacement which is given as a pill daily).

Children with primary adrenal insufficiency will need high doses or “stress” doses of cortisol replacement during an illness, injury or procedures such as surgery. In some emergency situations, when your child is sick and unable to tolerate taking the medicine by mouth (i.e. unable to swallow or keep the pills down due to vomiting), you may need to give cortisol as an injection.

Follow-up care

Children with primary adrenal insufficiency need regular follow up and blood testing. Monitoring is essential to avoid symptoms of adrenal insufficiency and ensure proper growth and development.

Outlook

With proper diagnosis and treatment, the symptoms of primary adrenal insufficiency can resolve or be well-controlled. Children with this condition are able to live normal lives and participate fully in school and other activities.

If your child has an underlying condition that requires ongoing therapy, such as congenital adrenal hyperplasia (CAH), daily cortisol can help manage symptoms over the long term.

If a patient is weaning off long-term steroid use — a condition called steroid induced adrenal insufficiency — hormone replacement therapy may only be needed temporarily.

Children on long-term steroid use need to be slowly weaned off the steroids to allow their body time to “wake up” and begin producing its own steroid hormones again.

Why choose us?

At CHOP’s Adrenal and Puberty Center, your child will have access to a multidisciplinary team of specialists with extensive experience in the treatment of adrenal disorders. We have established programs to educate families about primary adrenal insufficiency and how to care for a child at risk for adrenal crisis. 

We closely monitor all children in our care, ensuring they receive psychosocial support, nutritional counseling, access to various subspecialties according to their needs, and coordination of care.