Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs)

Francesca Marta Elli, Arrate Pereda, Agnès Linglart, Guiomar Perez de Nanclares, Giovanna Mantovani

Research output: Contribution to journalArticlepeer-review

Abstract

Metabolic 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 phosphodiesterase 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 The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and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.

Original languageEnglish
Pages (from-to)941-954
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Volume32
Issue number6
DOIs
Publication statusPublished - 2018

Keywords

  • GNAS
  • inactivating PTH/PTHrP signaling disorders (iPPSD)
  • PDE3A
  • PDE4D
  • PRKAR1A
  • pseudohypoparathyroidism (PHP)

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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