Pseudohypoparathyroidism

Pseudohypoparathyroidism is a rare disorder characterized by resistance to the parathyroid hormone. Those with the disorder have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low serum calcium).

Signs and Symptoms

The symptoms of pseudohypoparathyroidism are related to the low levels of calcium in the blood and can include any of the following: numbness, muscle cramps, and seizures. In addition, patients may exhibit physical traits such as short stature, round face, and short hand bones.

Causes

Pseudohypoparathyroidism is caused by mutations in the GNAS1 gene. This gene provides instructions for making a protein that helps regulate the activity of many hormone receptors.

Diagnosis

The diagnosis of pseudohypoparathyroidism is based on a series of tests that may include blood tests, urine tests, and genetic testing.

Treatment

The treatment for pseudohypoparathyroidism is focused on managing the symptoms and may include vitamin D and calcium supplements.

See Also

• Parathyroid hormone
• Calcium
• Phosphate
• GNAS1

References

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