Pseudohypoparathyroidism
Alternate Names : Albright's Hereditary Osteodystrophy, Types 1A and 1B Pseudohypoparathyroidism
 See all Pictures & Images
Diagnosis & Tests
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
- MRI or CT scan showing calcification of basal ganglia
|
