What is hyperparathyroidism?

Hyperparathyroidism is a disorder, rare in children, in which the parathyroid glands are overactive and produce too much parathyroid hormone. The parathyroid glands are tiny glands located near and behind the thyroid gland in the neck. Most people have four glands, but some people have fewer or more than four. Parathyroid hormone regulates the levels of calcium and phosphorous in the bloodstream, which are important for bone health and muscle function.

High levels of parathyroid hormone can cause the bones to release calcium into the bloodstream, which can lead to osteoporosis and osteomalacia (both bone-weakening diseases). Hyperparathyroidism can also cause kidney stones, as high levels of calcium in the blood are processed by the kidneys for excretion in the urine. If hyperparathyroidism remains untreated, the kidneys may become damaged (renal insufficiency).

What causes hyperparathyroidism?

Causes of hyperparathyroidism include benign (noncancerous) tumors on the parathyroid glands or enlargement of the parathyroid glands.

In some cases, hyperparathyroidism is caused by another condition that lowers blood calcium, affecting the function of the parathyroid gland. This is known as secondary hyperparathyroidism. It can be the result of a severe calcium or vitamin D deficiency or chronic kidney failure.

What are the symptoms of hyperparathyroidism?

Symptoms of hyperparathyroidism vary widely, and each person may experience symptoms differently. Symptoms may include:

• Flank pain (due to the presence of kidney stones)
• Frequent urination
• Blood or crystals in the urine
• Abdominal pain
• Nausea and loss of appetite
• Vomiting and/or diarrhea
• Fatigue or tiring easily
• Confusion or forgetfulness
• Depressed mood or anxiety
• Diminished bone density that causes bone pain
• Broken bones
• Muscle weakness
• Joint aches and pains
• Weight loss, poor weight gain or failure to thrive (in infants and young children)

Compared to adults, children more commonly have symptoms and involvement of other parts of the body, such as the kidneys, pancreas and bones, at diagnosis. Additionally, hyperparathyroidism in children is more commonly part of a syndrome, such as multiple endocrine neoplasia type 1 or multiple endocrine neoplasia type 2.

The symptoms of hyperparathyroidism may resemble other conditions or medical problems. Always consult your child's doctor for a diagnosis.

How is hyperparathyroidism diagnosed?

In addition to a complete medical history and physical examination, diagnostic procedures for hyperparathyroidism may include:

• Bone X-rays. A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones and organs onto film.
• Dual energy X-ray absorptiometry scan (DXA). A test to measure mineral bone density.
• Laboratory tests. The tests will measure calcium, phosphorus, magnesium, vitamin D and hormone levels in the blood. Urine tests may be done to measure kidney function and levels of excreted calcium.
• Ultrasonography. A procedure that evaluates the structure of the parathyroid gland using sound waves recorded on an electronic sensor.
• Nuclear medicine tests. These include sestamibi and other scans that use small amounts of radioactive materials to evaluate how a parathyroid gland is functioning and to help diagnose problems.
• Computed tomography scan (also called a CT or CAT scan). 
• Magnetic resonance imaging (MRI).

Genetic testing may be suggested if an inherited form of hyperparathyroidism is a possible cause.

How is hyperparathyroidism treated?

Specific treatment for hyperparathyroidism will be determined by your child's doctor in consultation with you.

Considerations include:

• Your child's current health status and past health history
• Severity of the condition
• Your child's ability to take medications and tolerate medical procedures
• Expectations for the course of the disease
• Your beliefs and concerns

Treatment may include:

• Watchful waiting, if symptoms are mild, kidney function is healthy and blood calcium levels are only slightly elevated
• Vitamin D supplements
• Surgical removal of parathyroid tissue to bring hormone production to normal levels
• Medication, such as cinacalcet and bisphosphonates, in rare cases when surgery is not indicated

Lifestyle changes, including regular exercise and increased fluid intake, may be recommended to complement medical treatment.

Follow-up care

Because the disorder can affect different body functions, ongoing coordinated care by a team of appropriate specialists may be needed.

Treatment of hyperparathyroidism at Children’s Hospital of Philadelphia (CHOP) is managed by the Center for Bone Health in the Division of Endocrinology and Diabetes.

Depending on the patient’s diagnosis and condition, coordinated care might include specialists in:

• General or Ear Nose and Throat (ENT) surgery
• Orthopedics
• Pain management
• Physical and occupational therapy
• Nutrition
• Genetics