Multiple hormone resistance and alterations of GPCRs signaling

Mantovani Giovanna, Elli Francesca Marta

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors.Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D). In this group of diseases, resistance to hormones such as PTH, TSH, gonadotropins and GHRH may be variably present, so that the clinical and molecular overlap among these different but related disorders represents a challenge for endocrinologists as to differential diagnosis and genetic counseling.This review will describe the presenting features of multiple resistance in PHP and related disorders, focusing on both our current understanding and future challenges.

Original languageEnglish
Pages (from-to)141-154
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Volume32
Issue number2
DOIs
Publication statusPublished - 2018

Fingerprint

Hormones
Pseudohypoparathyroidism
Gs GTP-Binding Protein alpha Subunits
Disease Resistance
Genetic Counseling
Gonadotropins
Differential Diagnosis
Proteins

Keywords

  • Acrodysostosis (ACRDYS)
  • GNAS
  • Hormone resistance
  • PDE4D
  • PRKAR1A
  • Pseudohypoparathyroidism (PHP)

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Multiple hormone resistance and alterations of GPCRs signaling. / Giovanna, Mantovani; Francesca Marta, Elli.

In: Best Practice and Research: Clinical Endocrinology and Metabolism, Vol. 32, No. 2, 2018, p. 141-154.

Research output: Contribution to journalArticle

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