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Parathyroid Disorders

What Are the Parathyroid Glands What Do They Do?

The parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. They control the levels of calcium and phosphorus stored in the bones and circulated in the blood. To do that, they release a hormone called parathyroid hormone, or PTH. Disorders occur either when the glands become either overactive or underactive.

Types of parathyroid disorders include: 


Hypoparathyroidism

Hypoparathyroidism occurs if the parathyroid glands stop working.

What Causes Hypoparathyroidism?

Hypoparathyroidism can occur due to a transient problem in infancy, a genetic or congenital syndrome (such as 22q11 deletion syndrome/DiGeorge syndrome, Kenny-Caffey syndrome, Barakat syndrome, Sanjad-Sakati syndrome), or an acquired problem. This can be autoimmune, where the body tells the parathyroid glands to stop working and can often co-occur with other autoimmune deficiencies (such as autoimmune polyglandular syndrome type 1) or can be due to the parathyroid glands being damaged or removed during a surgical procedure in the neck. Hypoparathyroidism can also occur due to damage from head and neck radiation, or infiltration of copper, iron, or other substances seen in other disorders.

What Are Signs & Symptoms of Hypoparathyroidism?  

Most symptoms occur due to hypocalcemia, or low blood calcium levels, since without PTH, the blood calcium levels get low.

Acute Hypoparathyroidism

  • Tetany: numbness around the mouth, or hands and feet, muscle cramping (especially hands and feet)
  • Trouble breathing (laryngospasm or bronchospasm)
  • Seizures
  • Fatigue
  • Irritability
  • Anxiety
  • Depression
  • Prolonged QT interval on ECG, arrhythmias

Chronic Hypoparathyroidism

  • Basal ganglia calcifications (calcium in brain)
  • Calcium deposits outside of bone
  • Cataracts
  • Dental problems

How Is Hypoparathyroidism Diagnosed?

Hypoparathyroidism is diagnosed when the blood calcium level is low and the PTH level is also low or is inappropriately normal (it should be high with a low calcium level). Also, clues can be obtained by examining your history of any genetic syndrome, surgeries, medications, etc. and symptoms of hypocalcemia as described above.

How Is Hypoparathyroidism Treated?

In children, hypoparathyroidism is most often treated with calcium and active vitamin D. Depending on the degree of hypocalcemia, this may need to be done in the hospital with intravenous (IV) medications, or can be done with oral medications.

In adults, replacement PTH is available, but this is not yet approved for use in children.

Sometimes additional medications are needed, such as magnesium supplementation or other medications to help decrease phosphorus levels, which are elevated with hypoparathyroidism.

What Are the Long-Term Effects of Hypoparathyroidism?

In some cases, hypoparathyroidism resolves on its own (it is transient, or temporary). This most often happens in infancy, or after some neck surgeries.

In cases where hypoparathyroidism is permanent, lifelong medication is needed. The most common long-term effects include hypo- and hyper-calcemia due to the body’s changing needs over time.

The goals of treatment are keeping the calcium levels in the low normal range, without symptoms of hypocalcemia. Higher levels of calcium often lead to more calcium in the urine and kidney stones (nephrolithiasis) or calcium deposits in the kidneys (nephrocalcinosis).

Many people with hypoparathyroidism report mood changes such as depression and anxiety chronically.

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Hyperparathyroidism

When one or more of the parathyroid glands become overactive, they release too much parathyroid hormone (PTH). This signals the bones to release calcium into the blood, where it is excreted in the urine. The loss of calcium from the bones results in osteoporosis (weak bones). Elevated calcium levels in the blood is called hypercalcemia.  

What Causes Hyperparathyroidism?

Primary hyperparathyroidism is usually caused by a noncancerous tumor, called an adenoma, forming in one of the parathyroid glands. This can be seen alone, or as part of the multiple endocrine neoplasia 1 or 2A (MEN1 or MEN2A) syndromes, and it can be inherited or acquired.

What Are Signs & Symptoms of Hyperparathyroidism?

Symptoms are most often due to the hypercalcemia, and each person may experience different symptoms. They may include:

  • Muscle weakness
  • Constipation
  • Nausea
  • Vomiting
  • Low tone in younger children
  • Bone pain
  • Abdominal pain
  • Kidney stones or calcium deposits in kidneys
  • Low phosphorus levels (hypophosphatemia)
  • Low magnesium levels (hypomagnesemia)
  • Renal tubular acidosis (proximal or distal)
  • Increased thirst
  • Increased urination
  • Pancreatitis
  • Osteoporosis
  • Fatigue/feeling tired
  • Confusion
  • Low heart rate
  • High blood pressure
  • Shortened QT interval on ECG, T-wave changes on ECG, arrhythmias

How Is Hyperparathyroidism Diagnosed?

Usually, hyperparathyroidism is diagnosed if a person has symptoms of hypercalcemia, and then lab tests are done, confirming an elevated calcium, with an elevated PTH level (or a normal PTH level with elevated calcium, because PTH level should be low with elevated calcium).

Other tests that are helpful in the diagnosis may be vitamin D levels, phosphorus levels, urine calcium, an ultrasound of the kidneys, imaging of the parathyroid glands, or a bone density study (DXA scan).

How Is Hyperparathyroidism Treated?

Surgical removal of the affected gland(s) is the usual treatment for primary hyperparathyroidism. Sometimes hospitalization is required to treat the hypercalcemia before surgery, and the bones are "hungry” for calcium after the removal of the affected gland(s), so the hospitalization may last a few days after surgical removal, to be sure the calcium levels are stable.

What Are the Long-Term Effects of Hyperparathyroidism?

If hyperparathyroidism is longstanding before treatment, or if it is unable to be surgically treated, the long-term effects include kidney stones, low bone density, osteoporosis, bone fractures, mood disorders, and the symptoms listed above.

Additional Resources

For more information, please refer to the following websites: 

Pseudohypoparathyroidism (PHP)

Pseudohypoparathyroidism occurs when the body makes parathyroid hormone (PTH), but is resistant to it, and cannot respond to it, leading to elevated levels of PTH and phosphorus, and low levels of calcium.

What Causes PHP?

Pseudohypoparathyroidism is caused by genetic changes (mutations) in genes that code for PTH and other hormones. There are several types and symptoms can vary by type.

What Are Signs & Symptoms of PHP?

  • PHP 1a: inherited from mother, resistance to PTH, as well as to other hormones, such as thyroid stimulating hormone, growth hormone releasing hormone, and hormones leading to puberty.
    • Hypocalcemia symptoms (as above in hypoparathyroidism and hypocalcemia)
    • Some patients have learning disabilities
    • Albright’s hereditary osteodystrophy (AHO)
      • Shortened metacarpals and metatarsals (hand and foot bones)
      • Round face
      • Bony formation under the skin
      • Narrow spine
      • Short stature
      • Obesity
  • Pseudopseudohypoparathyroidism: inherited from father. No resistance to PTH, no hypocalcemia
    • Albright’s hereditary osteodystrophy (AHO)
  • PHP 1b: resistance to PTH – elevated PTH and phosphorus levels, but not hypocalcemia, usually no AHO
    • Short stature
    • Usually diagnosed in teenage years
  • PHP 1c: similar to 1a, subset of 1a
  • PHP 2: resistance to PTH, elevated PTH, phosphorus, hypocalcemia, no AHO

How Is PHP Diagnosed?

If your child shows signs of AHO or symptoms of hypocalcemia, blood tests or x-rays will be done to determine the diagnosis.

How Is PHP Treated?

Active vitamin D replacement is the most common treatment needed for PHP. Some people also need calcium supplementation, or replacement of other hormones due to resistance of other hormones (thyroid hormone, growth hormone, puberty hormones).

What Are the Long-Term Effects of PHP?

  • Calcium deposits outside the bones – in brain, under skin, in kidneys
  • Cataracts
  • Dental problems
  • Need for medication throughout your lifetime

Additional Resources

For more information, please refer to the following websites: 

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