Pseudohypoparathyroidism

Pseudohypoparathyroidism is a group of genetic disorders characterized by end-organ resistance to parathyroid hormone (PTH). The condition is caused by pathogenic variants affecting the PTH signaling pathway. It is characterized by hypocalcemia, hyperphosphatemia, and elevated serum parathyroid hormone levels. The disease may be symptomatic or asymptomatic. Individuals with certain forms of pseudohypoparathyroidism typically exhibit features of Albright hereditary osteodystrophy, including short stature, obesity, a round face, dental abnormalities, and brachydactyly affecting the hands and feet.

Source | Author Doctor Nikas Samuolis, reviewed by Prof. Virginijus Šapoka | Vilnius University | Faculty of Medicine | Head of the Department of Internal Medicine, Family Medicine, and Oncology