Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP Signaling Disorders (iPPSDs)

Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Francesca Marta Elli, Arrate Pereda, Agnès Linglart, Guiomar Perez de Nanclares, Giovanna MantovaniAbstractMetabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in turn leading to manifestations similar to the deficiency of the hormone itself.Pseudohypoparathyroidism (PHP) and related disorders derive from a defect of the α subunit of the stimulatory G protein (Gsα) or of downstream effectors of the same pathway, such as the PKA regulatory subunit 1A and the phosphodyestarase type 4D.The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and classification has been recently proposed grouping these disorders under the term “inactivating PTH/PTHrP signaling disorder” (iPPSD).This review will focus on the pathophysiology, clinical and molecular aspects of these rare, heterogeneous but closely related diseases.

Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research