Pseudohypoparathyroidism
| Pseudohypoparathyroidism | |
|---|---|
| Specialty | Endocrinology  |
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.
Symptoms
Types
- Online Mendelian Inheritance in Man (OMIM): 103580 - Type 1A (closely associated with Albright's hereditary osteodystrophy)
- Online Mendelian Inheritance in Man (OMIM): 603233 - Type 1B
- Online Mendelian Inheritance in Man (OMIM): 203330 - Type 2
See also
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