Pseudohypoparathyroidism is a rare genetic disorder where the body produces adequate parathyroid hormone (PTH) but tissues are resistant to its effects. It is caused by genetic mutations that prevent target organs like the kidneys and bones from responding to PTH, resulting in low blood calcium and high phosphate levels. The Parathyroid Hormone (PTH) Intact test is the most important test for diagnosis because it reveals the paradoxical pattern of elevated PTH with low calcium levels.
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Pseudohypoparathyroidism is caused by genetic mutations that affect the GNAS1 gene, which controls how cells respond to parathyroid hormone (PTH). These mutations prevent your kidneys and bones from recognizing and responding to PTH signals, even though your parathyroid glands produce normal or elevated amounts of the hormone. The result is that calcium levels drop and phosphate levels rise in your blood, creating symptoms similar to having too little PTH, even though the hormone is present in adequate amounts.
The Parathyroid Hormone (PTH) Intact test is the most important test for pseudohypoparathyroidism because it reveals the characteristic paradoxical pattern that defines this condition. In pseudohypoparathyroidism, this test shows elevated or high-normal PTH levels, which is the opposite of what you would expect given the symptoms. When combined with calcium and phosphate level testing, it helps distinguish this hormone resistance disorder from true hypoparathyroidism, where PTH levels would be low. This test measures intact PTH molecules in your bloodstream and provides the key diagnostic marker needed to identify tissue resistance to the hormone.
You should get tested if you experience symptoms like muscle cramps, tingling or numbness in your hands and feet, fatigue, or dental problems, especially if these occur alongside short stature or unusual bone development. Testing is also important if you have a family history of this genetic condition or if you have unexplained low calcium levels discovered during routine blood work. Children with developmental delays, intellectual disabilities, or characteristic physical features like rounded face and short fingers should also be evaluated, as early diagnosis can help manage symptoms and prevent complications.
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What this means
Your PTH level is slightly elevated above the optimal range. This may indicate your parathyroid glands are working harder than normal to regulate calcium levels, which could be due to vitamin D deficiency, early kidney issues, or mild parathyroid overactivity. While this elevation is modest, it's worth investigating the underlying cause to protect your bone health long-term.
Recommended actions
Get your vitamin D levels checked, as deficiency is a common cause of elevated PTH
Ensure adequate calcium intake through dairy, leafy greens, and fortified foods
Include magnesium-rich foods like nuts, seeds, and whole grains to support calcium metabolism
Retest PTH along with calcium and vitamin D levels in 3-6 months to monitor trends
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