Cushing’s Syndrome

Cushing’s syndrome, also called hypercortisolism, is a condition in which the body produces too much of the hormone cortisol. In most cases, it is caused by an abnormality in the adrenal or pituitary glands.

Cortisol helps your child’s body respond to an illness or injury. It also stabilizes blood pressure and blood sugar levels. When the body produces too much cortisol, it can slow a child’s growth, disrupt puberty, and cause obesity, mood changes, and a variety of other symptoms.

Cushing’s syndrome is extremely rare.

The primary symptoms of Cushing’s syndrome in children who are still growing is a dramatic slowing in vertical growth, while the child continues to gain weight.

• Weight gain, specifically in the mid-torso
• Vertical growth slows or stops
• Thin arms and legs compared to the rest of the body
• Stretch marks on abdomen, arms, thighs and buttocks
• Round or moon-shaped face
• Excess facial hair (hirsutism) in girls
• Menstrual changes in girls
• Acne
• Fatigue
• Precocious (early) puberty
• Diabetes
• High blood pressure (hypertension)
• High cholesterol

Some children will also experience a variety of other symptoms including:

• Easy bruising
• Emotional changes such as depression and moodiness
• Weakened bones
• Muscle weakness
• Late or delayed puberty
• Sleep disturbances
• Hypercalcemia (extra calcium in the blood)
• Kidney stones (calcium that comes from the bones leaks through the kidneys into the urine and can crystallize, causing calcium stones)

Cushing’s syndrome can be caused by:

• An abnormality in the adrenal gland, which causes the gland to produce too much cortisol.
• An abnormality in the pituitary gland
• An adrenal tumor.
• Glucocorticoid treatment — such as prednisone, Dexamethasone, or cortisone — in large doses or over long periods of time.

Cushing’s syndrome may be suspected in a child who is abnormally short but continues to gain weight. However, an examination and testing by a skilled pediatric endocrinologist will be needed to confirm the diagnosis.

Testing may include:

• A 24-hour urinary test. Urine is collected for 24 hours to measure hormone levels.
• Diurnal cortisol test. Most children have very low cortisol levels at midnight when they are sleeping. Children with Cushing’s syndrome will have elevated cortisol levels at this time — similar to levels found in most children in the early morning. This testing can be done by drawing blood or using a saliva swab inside the cheek.
• Dexamethasone suppression test. Your child is given a synthetic glucocorticoid medication, then blood is drawn and tested to determine the cortisol level in the blood. The test measures whether your child’s pituitary gland is producing too much adrenocorticotrophic hormone (ACTH).
• Corticotropin-releasing hormone stimulation test, which can determine whether the extra cortisol your child’s body is producing is the result of a tumor in the adrenal or pituitary gland.
• X-rays, which produce images of bones on film.
• Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs, soft tissues, muscles, ligaments and other structures within the body. Your child is exposed to no radiation during an MRI.
• Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to examine bones and produces cross-sectional images ("slices") of the body.

In the Adrenal and Puberty Center at CHOP, our team will work with your family to develop an individualized plan to treat and monitor your child’s condition. Cushing’s syndrome may require lifelong treatment. Our team of specialists is here to support your family every step of the way as your child grows.

The goal of treatment is to stop or remove the source of the extra cortisol in your child’s body. Because there are different causes of Cushing’s syndrome, treatment options vary.

Medication

Your child’s doctor may prescribe medications that block the excessive production of certain hormones. This may be appropriate for children who have abnormalities in the adrenal or pituitary glands.

If your child has an autoimmune disorder and is taking long-term glucocorticoid medication, it may be necessary to change the dosage and frequency of the medication. This can stop your child’s body from overproducing cortisol that is causing Cushing’s symptoms. However, it is extremely important that medications are tapered slowly and under the supervision of a physician.

Surgery

If your child has tumors or growths on the adrenal or pituitary glands that are causing it to overproduce cortisol, surgery may be needed to remove these growths. In rare cases, surgical removal of the entire adrenal or pituitary gland may be recommended

Radiation

Radiation may also be used to treat tumors or growths on the adrenal glands. It may be used alone, or in conjunction with surgery.

Children with Cushing’s syndrome should follow-up with the endocrinologist every three to six months to monitor hormone levels, adjust medication as needed, and measure the effectiveness of treatment.

During these visits, doctors will order blood and urine tests, and physically examine your child. They will assess if your child is returning to normal height and weight patterns, and if pubertal development is back on track. Once your child has finished growing, check-ups can be spaced out to every six months.

If your child had surgery, he will need to follow-up with the surgeon one to two weeks after surgery, and then on as-needed basis.

Depending on your child’s condition, long-term care may be needed. At the Adrenal and Puberty Center, we bring endocrinologists, urologists, reproductive specialists, counselors and nurses together to deliver the best-coordinated care for your child.