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Published on: August 31, 2022
PTH resistance
Giovanna Mantovani1, Francesca Marta Elli2
1University of Milan, Dept. Clinical Sciences and Commmunity Health, Via Lamarmora 5, Milan, Italy; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Via Lamarmora 5, 20122, Milan, Italy.
Abstract:
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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