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Multiple hormonal resistances: Diagnosis, evaluation and therapy

Agnès Linglart1, Caroline Silve2, Anya Rothenbuhler1

  • 1Endocrinology and diabetology for children, Paris 11 University, French center of reference for rare disorders of calcium and phosphorus metabolism, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France; Inserm U1169, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France.

Annales D'Endocrinologie
|April 28, 2015
PubMed

Insights

Molecular changes in cAMP signaling impact hormone receptors like PTH/PTHrp and TSH. Identifying hormonal resistance suggests investigating underlying genetic disorders causing metabolic issues.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Cyclic adenosine monophosphate (cAMP) is a crucial second messenger in cellular signaling pathways.
  • Alterations in cAMP-mediated signaling can disrupt the function of various hormone receptors.
  • Hormonal resistance, particularly to parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH), has significant clinical implications.

Purpose of the Study:

  • To investigate the impact of molecular alterations in cAMP-mediated signaling on hormone receptor function.
  • To explore the relationship between hormonal resistance and underlying genetic disorders.
  • To understand the broader consequences of disrupted cAMP signaling.

Main Methods:

  • Analysis of molecular alterations affecting cAMP signaling pathways.
  • Assessment of the signaling efficacy of hormone receptors, including PTH/PTHrp and TSH receptors.
  • Genetic analysis to identify potential causative genetic disorders in cases of hormonal resistance.

Main Results:

  • Molecular alterations in cAMP signaling primarily affect the PTH/PTHrp receptor.
  • The signaling of other hormones, including TSH, is affected with varying severity.
  • Identification of hormonal resistance points towards a need for genetic investigation.

Conclusions:

  • Disruptions in cAMP-mediated signaling have significant consequences for PTH/PTHrp and TSH receptor function.
  • Hormonal resistance is a key indicator for investigating underlying genetic disorders.
  • Understanding these molecular mechanisms is crucial for diagnosing and managing metabolic disorders.
Keywords:
AcrodysostoseAcrodysostosisG-protein coupled receptorPTH resistancePseudohypoparathyroidiePseudohypoparathyroidismRécepteur couplé aux protéines GRésistance à la PTH

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