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Sub-Category:

Pseudohypoparathyroidism

Specialty: Diabetes and Endocrinology

Sub-category: Other Parathyroid Disorders

Symptoms:
numbness or tingling in the fingers, toes, or lips; muscle cramps; spasms (tetany); fatigue; short stature; round face; skeletal abnormalities (e.g., shortened fourth and fifth metacarpals/metatarsals)

Root Cause:
Body tissues are resistant to parathyroid hormone (PTH), leading to low calcium levels and high phosphate levels despite normal or elevated PTH levels.

How it's Diagnosed: videos
Blood tests for calcium, phosphate, and PTH levels; genetic testing for GNAS mutations; X-rays to detect skeletal abnormalities.

Treatment:
Management of calcium and phosphate imbalance through supplementation and dietary modifications.

Medications:
Calcium supplements and active forms of vitamin D (e.g., calcitriol ) to correct hypocalcemia. In some cases, phosphate binders may be prescribed. These are classified as mineral supplements and vitamin D analogs.

Prevalence: How common the health condition is within a specific population.
Rare, affecting approximately 1 in 100,000 to 1 in 200,000 individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic inheritance of GNAS mutations; autosomal dominant transmission.

Prognosis: The expected outcome or course of the condition over time.
Generally manageable with appropriate treatment, though complications can arise if untreated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Seizures due to severe hypocalcemia, dental abnormalities, and potential chronic kidney disease from hyperphosphatemia.