*Pseudohypoparathyroidism

Chapter: Pseudohypoparathyroidism
McMaster Section Editor(s): Victor M. Montori, Juan P. Brito
Section Editor(s) in Interna Szczeklika: Barbara Jarząb, Ewa Płaczkiewicz-Jankowska
McMaster Author(s): Naykky Singh Ospina, Juan P. Brito
Author(s) in Interna Szczeklika: Franciszek Kokot, Edward Franek, Ewa Płaczkiewicz-Jankowska
Additional Information

Definition and Clinical FeaturesTop

Pseudohypoparathyroidism (PHP) is a group of distinct inherited disorders characterized by resistance of target tissues to parathyroid hormone (PTH) due to an inherited defect of the PTH-PTH receptor response (characterized by hypocalcemia, hyperphosphatemia, and high PTH levels). PHP resistance in association with a dysmorphic syndrome including obesity, rounded face, brachydactyly, and a degree of developmental delay is suggestive of Albright hereditary osteodystrophy.

Diagnosis Top

Differential diagnosis should include primary hypoparathyroidism and secondary hypoparathyroidism.

TreatmentTop

Treatment is the same as in patients with true hypoparathyroidism (correction of hypocalcemia and hyperphosphatemia).

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