PTH resistance.

Mol Cell Endocrinol

Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Via Lamarmora 5, 20122, Milan, Italy. Electronic address:

Published: July 2021

Parathyroid hormone (PTH), which is primarily regulated by extracellular calcium changes, controls calcium and phosphate homeostasis. Different diseases are derived from PTH deficiency (hypoparathyroidism), excess (hyperparathyroidism) and resistance (pseudohypoparathyroidism, PHP). Pseudohypoparathyroidism was historically classified into subtypes according to the presence or not of inherited PTH resistance associated or not with features of Albright's hereditary osteodystrophy and deep and progressive ectopic ossifications. The growing knowledge on the PTH/PTHrP signaling pathway showed that molecular defects affecting different members of this pathway determined distinct, yet clinically related disorders, leading to the proposal of a new nomenclature and classification encompassing all disorders, collectively termed inactivating PTH/PTHrP signaling disorders (iPPSD).

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http://dx.doi.org/10.1016/j.mce.2021.111311DOI Listing

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