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Endocrinology
Hypercortisolaemia without clinical stigmata of Cushing syndrome
  1. Sneha Krishna1 and
  2. Adam Morton2
  1. 1Queensland Health, Brisbane, Queensland, Australia
  2. 2Endocrine and Obstetric Medicine, Queensland Health, Brisbane, Queensland, Australia
  1. Correspondence to Dr Adam Morton; adam.morton{at}mater.org.au

Abstract

A man in his 20s was referred by his general practitioner because of the finding of adrenocorticotropic hormone (ACTH)-dependent hypercortisolaemia, discovered as part of investigation of fatigue and alopecia. The man had no other clinical findings suggestive of Cushing syndrome. Further investigation revealed intact diurnal rhythm in cortisol production, normal bone density and excluded assay interference. Further investigation revealed the man’s sibling had been labelled as having Cushing syndrome because of similar biochemical abnormalities. A diagnosis of familial primary generalised glucocorticoid resistance syndrome was made. Testing for mutations in the NR3C1 gene is awaited.

  • Endocrine system
  • Adrenal disorders
  • Pituitary disorders

https://doi.org/10.1136/bcr-2023-258286

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: SK and AM. The following authors gave final approval of the manuscript: SK and AM.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.