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Exp Suppl. 2019;111:85-102. doi: 10.1007/978-3-030-25905-1_6.

Glucocorticoid Resistance.

Author information

1
Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece. nnicolaides@bioacademy.gr.
2
Division of Endocrinology and Metabolism, Center of Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece. nnicolaides@bioacademy.gr.
3
Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece.
4
Division of Endocrinology and Metabolism, Center of Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.

Abstract

Primary generalized glucocorticoid resistance or Chrousos syndrome is a rare disorder, which affects all tissues expressing the human glucocorticoid receptor. It is characterized by generalized, partial tissue insensitivity to glucocorticoids caused by genetic defects in the NR3C1 gene. We and others have applied standard methods of molecular and structural biology to investigate the molecular mechanisms and conformational alterations through which the mutant glucocorticoid receptors lead to the broad spectrum of clinical manifestations of Chrousos syndrome. The ever-increasing application of novel technologies, including the next-generation sequencing, will enhance our knowledge in factors that influence the glucocorticoid signal transduction in a positive or negative fashion.

KEYWORDS:

Chrousos syndrome; Glucocorticoid receptor; Glucocorticoid signaling; Glucocorticoids; NR3C1 mutations; Primary generalized glucocorticoid resistance

PMID:
31588529
DOI:
10.1007/978-3-030-25905-1_6
[Indexed for MEDLINE]

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