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Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
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Related Experiment Video

Updated: May 14, 2026

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

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Published on: December 9, 2015

ACTH resistance: genes and mechanisms.

E Meimaridou1, C R Hughes, J Kowalczyk

  • 1Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Endocrine Development
|February 9, 2013
PubMed
Summary

Familial glucocorticoid deficiency (FGD) is caused by new gene defects in MCM4 and NNT. These findings reveal novel genetic mechanisms underlying ACTH resistance and adrenal cortex stress sensitivity.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Familial glucocorticoid deficiency (FGD) is a rare, genetically diverse disorder characterized by ACTH resistance.
  • Previous genetic studies identified mutations in MC2R, MRAP, and STAR genes, affecting ACTH signaling and steroidogenesis.
  • These defects disrupt ACTH ligand binding, receptor trafficking, or cholesterol transport for steroid hormone production.

Purpose of the Study:

  • To identify novel genetic causes of familial glucocorticoid deficiency (FGD).
  • To elucidate new pathogenetic mechanisms contributing to ACTH resistance.
  • To understand the adrenal cortex's sensitivity to genomic and oxidative stress.

Main Methods:

  • Genetic analysis of patients with familial glucocorticoid deficiency (FGD).
  • Identification and characterization of mutations in novel genes.
  • Investigation of the functional consequences of identified mutations on adrenal function.

Main Results:

  • Novel gene defects were identified in mini-chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT) in FGD patients.
  • MCM4 mutations implicate DNA replication and genome stability in FGD pathogenesis.
  • NNT mutations suggest a role for the glutathione redox system and oxidative stress in adrenal dysfunction.

Conclusions:

  • Mutations in MCM4 and NNT represent new genetic causes of familial glucocorticoid deficiency (FGD).
  • These findings expand the known genetic basis of ACTH resistance.
  • The adrenal cortex demonstrates significant sensitivity to DNA replication stress and oxidative damage, as indicated by these novel genetic defects.