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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
The diagnosis of pseudohypoparathyroidism is based on a series of tests that may include blood tests, urine tests, and genetic testing.
Treatment[edit | edit source]
The treatment for pseudohypoparathyroidism is focused on managing the symptoms and may include vitamin D and calcium supplements.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
