Pseudohypoparathyroidism

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Pseudohypoparathyroidism

Symptoms are related to low levels of calcium and include sensations of numbness and seizures.

Signs related to Albright's hereditary osteodystrophy include:

• short stature
• round face and short neck
• brachydactyly (short hand bones, especially the bone below the 4th finger)
• subcutaneous calcification
• dimples can replace knuckles on affected digits

Signs of hypocalcemia include:

• seizures
• tetany
• cataracts
• dental abnormalities

Hypocalcemia typically begins in childhood.

Tests may show:

• low serum calcium
• elevated serum phosphorus
• elevated intact PTH
• abnormal urinary cAMP response to PTH challenge (Type Ia and Ib)
• abnormal gene testing
• head MRI or CT scan of the brain showing calcification of basal ganglia

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