Definition

What is pseudohypoparathyroidism?

Pseudohypoparathyroidism is a genetic disorder in which the body fails to respond to parathyroid hormone.

How common is pseudohypoparathyroidism?

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of pseudohypoparathyroidism?

Symptoms are related to a low level of calcium and include:

  • Cataracts
  • Dental problems
  • Numbness
  • Seizures
  • Tetany (a collection of symptoms including muscle twitches and hand and foot spasms)

People with Albright hereditary osteodystrophy may have the following symptoms:

  • Calcium deposits under the skin
  • Dimples that can replace knuckles on affected fingers
  • Round face and short neck
  • Short hand bones, especially the bone below the 4th finger
  • Short height

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes pseudohypoparathyroidism?

The parathyroid glands produce parathyroid hormone (PTH). PTH helps control calcium, phosphorus, and vitamin D levels in the blood and bone.

If you have pseudohypoparathyroidism, your body produces the right amount of PTH, but is “resistant” to its effect. This causes low blood calcium levels and high blood phosphate levels.

Pseudohypoparathyroidism is caused by abnormal genes. There are different types of pseudohypoparathyroidism. All forms are rare.

  • Type Ia is inherited in an autosomal dominant manner. That means only one parent needs to pass you the faulty gene for you to have the condition. It is also called Albright hereditary osteodystrophy. The condition causes short stature, round face, obesity, developmental delay, and short hand bones. Symptoms depend on whether you inherit the gene from your mother or father.
  • Type Ib involves resistance to PTH only in the kidneys. Less is known about type Ib than type Ia. Calcium in the blood is low, but there are no symptoms of Albright hereditary osteodystrophy.
  • Type II pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels. People with this form of the disorder do not have the physical traits common to people with Type Ia. The genetic abnormality that causes it is not known.

Risk factors

What increases my risk for pseudohypoparathyroidism?

Please consult with your doctor for more information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is pseudohypoparathyroidism diagnosed?

Blood tests will be done to check calcium, phosphorus, and PTH levels. You may also need urine tests.

Other tests may include:

  • Genetic testing
  • Head MRI or CT scan of the brain

How is pseudohypoparathyroidism treated?

Your health care provider will recommend calcium and vitamin D supplements to maintain a proper calcium level. If the blood phosphate level is high, you may need to follow a low-phosphorus diet or take medicines called phosphate binders (such as calcium carbonate or calcium acetate).

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage pseudohypoparathyroidism?

If you have any questions, please consult with your doctor to better understand the best solution for you.

 

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: October 24, 2017 | Last Modified: October 24, 2017

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.