Pseudohypoparathyroidism
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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 is appropriately high.
- Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies.
- Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.
The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
[edit] Symptoms
[edit] Types
- Mendelian Inheritance in Man (OMIM) 103580 - Type 1A (closely associated with Albright's hereditary osteodystrophy)
- Mendelian Inheritance in Man (OMIM) 603233 - Type 1B
- Mendelian Inheritance in Man (OMIM) 203330 - Type 2
