What is 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.

Signs and symptoms

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)

Causes

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.

Diagnosis and testing

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.