Pseudohypoparathyroidism type 1B
ORPHA:94089· ICD-10 E20.1
Definition
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal