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N Ramos1, M Lombès1

  • 1INSERM Unité 1185, Faculté de Médecine Paris-Sud, 63 rue Gabriel Péri, 94276 Le Kremlin Bicêtre, France.

Annales D'Endocrinologie
|June 25, 2017
PubMed
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See all related articles

Steroid resistance syndromes, often caused by receptor mutations, lead to elevated hormone levels without excess symptoms. Understanding these defects offers new management strategies for this rare disorder.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Steroid resistance syndromes are rare disorders affecting mineralocorticoid, glucocorticoid, estrogen, and androgen signaling.
  • Androgen insensitivity syndrome is the most frequently observed type.
  • These syndromes present with elevated hormone levels due to impaired signal transduction and lack of negative feedback, but lack clinical signs of hormone excess.

Purpose of the Study:

  • To review the molecular basis of steroid resistance syndromes.
  • To highlight the role of steroid receptor mutations and other pathway factors.
  • To discuss current therapeutic limitations and future directions.

Main Methods:

  • Literature review of steroid resistance syndromes.
  • Analysis of reported mutations in steroid hormone receptors.
Keywords:
Hormone stéroïdeMutationNuclear ReceptorResistance SyndromeRécepteur nucléaireSteroid HormoneSyndrome de résistance

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  • Discussion of factors involved in steroid hormone signaling pathways.

    • Main Results:

    • Steroid hormone resistance is primarily caused by mutations in steroid receptors, with varying mutation frequencies across different receptors (e.g., >500 for androgen receptor, 3 for estrogen receptor).
    • The progesterone receptor has not yet had reported mutations.
    • Dysfunction of other signaling pathway components, like chaperones or coactivators, may also contribute to pathogenesis.

    Conclusions:

    • Current therapies for steroid resistance are symptomatic, as no treatments restore impaired hormone signaling.
    • Identifying and characterizing these syndromes is crucial for understanding molecular defects.
    • Further research into underlying defects may lead to novel therapeutic approaches for disease management.