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 journalArticle

1 Citation (Scopus)

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 The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and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

Fingerprint

Pseudohypoparathyroidism
Parathyroid Hormone-Related Protein
Parathyroid Hormone
Gs GTP-Binding Protein alpha Subunits
Type 4 Cyclic Nucleotide Phosphodiesterase
Terminology
Hormones
Progressive Osseous Heteroplasia
Acrodysostosis

Keywords

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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs). / Elli, Francesca Marta; Pereda, Arrate; Linglart, Agnès; Perez de Nanclares, Guiomar; Mantovani, Giovanna.

In: Best Practice and Research: Clinical Endocrinology and Metabolism, Vol. 32, No. 6, 2018, p. 941-954.

Research output: Contribution to journalArticle

Elli, Francesca Marta ; Pereda, Arrate ; Linglart, Agnès ; Perez de Nanclares, Guiomar ; Mantovani, Giovanna. / Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs). In: Best Practice and Research: Clinical Endocrinology and Metabolism. 2018 ; Vol. 32, No. 6. pp. 941-954.
@article{51e9c3353485411c861ef7e60d21c7ea,
title = "Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs)",
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.",
keywords = "GNAS, inactivating PTH/PTHrP signaling disorders (iPPSD), PDE3A, PDE4D, PRKAR1A, pseudohypoparathyroidism (PHP)",
author = "Elli, {Francesca Marta} and Arrate Pereda and Agn{\`e}s Linglart and {Perez de Nanclares}, Guiomar and Giovanna Mantovani",
year = "2018",
doi = "10.1016/j.beem.2018.09.008",
language = "English",
volume = "32",
pages = "941--954",
journal = "Best Practice and Research in Clinical Endocrinology and Metabolism",
issn = "1521-690X",
publisher = "Bailliere Tindall Ltd",
number = "6",

}

TY - JOUR

T1 - Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs)

AU - Elli, Francesca Marta

AU - Pereda, Arrate

AU - Linglart, Agnès

AU - Perez de Nanclares, Guiomar

AU - Mantovani, Giovanna

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

KW - GNAS

KW - inactivating PTH/PTHrP signaling disorders (iPPSD)

KW - PDE3A

KW - PDE4D

KW - PRKAR1A

KW - pseudohypoparathyroidism (PHP)

UR - http://www.scopus.com/inward/record.url?scp=85054583409&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054583409&partnerID=8YFLogxK

U2 - 10.1016/j.beem.2018.09.008

DO - 10.1016/j.beem.2018.09.008

M3 - Article

AN - SCOPUS:85054583409

VL - 32

SP - 941

EP - 954

JO - Best Practice and Research in Clinical Endocrinology and Metabolism

JF - Best Practice and Research in Clinical Endocrinology and Metabolism

SN - 1521-690X

IS - 6

ER -