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| Pseudohypoparathyroidism Classification and external resources |
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| ICD-10 | E20.1 |
|---|---|
| ICD-9 | 275.49 |
| DiseasesDB | 10835 10851 |
| MedlinePlus | 000364 |
| eMedicine | med/1940 |
| MeSH | D011547 |
Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high. Its pathogenesis has been linked to dysfunctional G Proteins.
Contents |
Types
- Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder.[1]
- Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.[2]
- Type 2 pseudohypoparathyroidism also lacks the physical appearance of type 1a.[3] While biochemically similar, type 1 and 2 disease may be distinguished by the differing urinary excretion of cyclic AMP in response to exogenous PTH.
Related conditions
The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
Presentation
This disorder is clinically manifest by blunting of fourth and fifth metacarpals. The common mnemonic "knuckle knuckle dimple dimple" refers to the blunting of the fourth and fifth metacarpal bones.
Symptoms
References
See also
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Wikipedia content modification information:
- This page was last modified on 22 September 2008, at 02:27.
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