Pseudohypoparathyroidism type 2
ORPHA:94090· ICD-10 E20.1
Definition
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.
- Prevalence
- Unknown
- Inheritance
- Not applicable
- Age of onset
- All ages