What causes pseudohypoparathyroidism?

Pseudohypoparathyroidism is caused by changes (mutations) in a number of different genes including the GNAS1 gene. When this gene is not working correctly, the body is not able to properly respond to parathyroid hormone, which increases the level of phosphorous in the blood and decreases the level of calcium. A mutation in this gene is most often inherited from the affected person’s mother, although it can sometimes be inherited from the father.

Last updated on 05-01-20

How is pseudohypoparathyroidism diagnosed?

Pseudohypoparathyroidism can be diagnosed by blood or urine tests to measure the levels of calcium, phosphorous, and parathyroid hormone. If the levels of parathyroid hormone and phosphorous are high and if the levels of calcium or low, this indicates the possibility of pseudohypoparathyroidism. A doctor may wish to confirm the diagnosis through genetic testing for a mutation in the GNAS1 gene.

Last updated on 05-01-20

What is the treatment for pseudohypoparathyroidism?

The goal of treatment for pseudohypoparathyroidism is to return the levels of calcium and phosphorous to normal. This can be done by taking calcium supplements to increase the level of calcium in the body. Vitamin D supplements also indirectly work to increase calcium levels in the body because vitamin D improves the absorption of calcium. The doctors may also recommend a low-phosphate diet or specific medications that bind to phosphate in the blood and reduce the effects.

Because people affected with certain types of pseudohypoparathyroidism may be shorter than other people, growth hormone may also be a treatment that allows these individuals to grow taller than they otherwise would.

Last updated on 05-01-20

Name: Hormone Health Network United States Toll Free: 1-800-HORMONE (1-800-467-6663) Email: Url:
Name: HypoPARAthyroidism Association, Inc. HPTH P.O. Box 2258
Idaho Falls, ID, 83403, United States
Phone: +1-208-524-3857 Toll Free: 866-213-0394 Email: Url:
Name: Hypopara UK 6 The Meads East Grinstead
West Sussex, RH19 4DF, United Kingdom
Phone: 01342 316315 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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