Wednesday, 28 December 2011

Pseudohypoparathyroidism

- due to mutation of PTH receptor with abnormality of the Gs alpha subunit with reduced cAMP production following a PTH infusion
- hypocalcemia with hyperphosphataemia and elevated PTH
- associated with short stature, low IQ and shortened 4th and 5th metacarpals (Albright's hereditary osteodystrophy)
- pseudopseudohypoparathyroidism is phenotypically similar to pseudohypoparathyroidism but biochemically normal
- both associated with genetic imprinting

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1 comment:

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