Pseudohypoparathyroidism type 1B

Definition

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) 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.

Disease data

Classification

Disease

ORPHA code

94089

OMIM code

603233

ICD10 code

E20.1

ICD11 code

*Soruce