Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.
Endocrine and metabolic disease
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Disorders of the parathyroids or parathyroid hormone system
Pathway-based classification of diseases [BR:br08402]
nt06318 CaSR-PTH signaling