Understanding Lab Tests for Pseudohypoparathyroidism
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Pseudohypoparathyroidism is a rare genetic disorder where the body produces adequate amounts of parathyroid hormone (PTH) but the tissues are resistant to its effects. This resistance leads to symptoms similar to hypoparathyroidism, including low blood calcium and high phosphate levels, despite normal or elevated PTH production.
Recommended Test
Parathyroid Hormone (PTH), Intact
This test is crucial for diagnosing pseudohypoparathyroidism as it measures the level of intact PTH in the blood. In this rare condition, PTH levels are typically elevated because the body's tissues are resistant to the hormone's effects. Despite high PTH levels, the kidneys and bones do not respond appropriately, resulting in low blood calcium and high blood phosphate levels. This paradoxical finding of high PTH with low calcium distinguishes pseudohypoparathyroidism from true hypoparathyroidism.
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Diagnosing Pseudohypoparathyroidism
The key to diagnosing pseudohypoparathyroidism lies in identifying the paradoxical relationship between PTH levels and calcium/phosphate levels. Unlike true hypoparathyroidism where PTH is low, pseudohypoparathyroidism presents with elevated PTH levels alongside the typical symptoms of calcium deficiency.
Understanding Your Results
In pseudohypoparathyroidism, you would typically see elevated PTH levels combined with low serum calcium and high phosphate levels. This pattern indicates that while the parathyroid glands are producing adequate hormone, the target tissues are not responding effectively. Additional testing for calcium and phosphate levels, along with clinical evaluation, helps confirm the diagnosis.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. Pseudohypoparathyroidism requires specialized medical management and ongoing monitoring.
