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Case Reports: Rare disease
ARMC5-negative primary bilateral macronodular adrenal hyperplasia
  1. Bastiaan Sol1,
  2. Marilyn Carprieaux2 and
  3. Nico De Leu3,4,5
  1. 1Endocrinology, AZ Alma Campus Eeklo, Eeklo, Belgium
  2. 2Anatomical Pathology, ASZ Campus Aalst, Aalst, Belgium
  3. 3Beta Cell Neogenesis Unit, Vrije Universiteit Brussel, Jette, Belgium
  4. 4Endocrinology, ASZ Campus Aalst, Aalst, Belgium
  5. 5Endocrinology-Diabetology, UZ Brussel, Jette, Belgium
  1. Correspondence to Professor Nico De Leu; nico.de.leu{at}vub.be

Abstract

A woman in her 60s with chronic fatigue, depressed mood and proximal muscle weakness was referred to our endocrinology department. Physical examination revealed facial plethora, atrophic skin and ankle oedema. Adjuvant blood and urine analyses indicated endogenous ACTH-independent Cushing syndrome. Abdominal imaging showed bilateral macronodular adrenals, measuring 58.9 × 29.7 mm on the right and 55.6 × 42.6 mm on the left. Primary bilateral macronodular adrenal hyperplasia was confirmed by pathology after bilateral adrenalectomy. Gradual mental and physical recovery was observed in the months following surgery. Genetic sequencing failed to reveal mutations in the ARMC5 gene.

Cushing syndrome is a rare entity that should be suspected when typical clinical signs, including skin atrophy with ecchymosis, muscle weakness or coloured stretch marks, are present. Primary bilateral macronodular adrenal hyperplasia is an uncommon cause of endogenous Cushing syndrome. It is a benign condition characterised by adrenal macronodules exceeding 1 cm and hypercorticism.

  • Adrenal disorders
  • Endocrinology

http://dx.doi.org/10.1136/bcr-2022-254099

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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: BS, MC and NDL. The following authors gave final approval of the manuscript: BS, MC and NDL.

    • 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.