Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years - Summary - MDSpire

Family Case Study: β-adrenergic and vasopressin-responsive bilateral macronodular adrenal disease associated with an ARMC5 mutation successfully managed with metyrapone monotherapy for over five years

  • By

  • Masanori Arai

  • Masato Ono

  • Ryota Inoue

  • Kazuki Tajima

  • Kota Aomori

  • Tomoyuki Tatenuma

  • Sawako Suzuki

  • Shoji Yamanaka

  • Satoshi Fujii

  • Yasuo Terauchi

  • Jun Shirakawa

  • July 21, 2026

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Objective:

To report a familial case of bilateral macronodular adrenal disease (BMAD) associated with ARMC5 mutations managed with metyrapone monotherapy.

Approach:
  • Patient Case Presentation: A Japanese parent-child pair, both with genetically confirmed BMAD and ARMC5 mutations, were treated with metyrapone for over five years.
Key Findings:
  • Both patients exhibited sustained biochemical control of adrenocortical hyperfunction for more than 5 years.
  • One patient developed progressive hypokalemia, leading to unilateral adrenalectomy.
Interpretation:

Metyrapone monotherapy may be an effective noninvasive treatment for select familial BMAD patients, though monitoring for complications is necessary.

Limitations:
  • Limited evidence on the long-term effectiveness of metyrapone in familial BMAD cases.
  • Potential complications such as hypokalemia require careful monitoring.
Conclusion:

Metyrapone monotherapy can manage familial BMAD, but close monitoring is essential.

Original Source(s)

Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years

  • by Masanori Arai, Masato Ono, Ryota Inoue, Kazuki Tajima, Kota Aomori, Tomoyuki Tatenuma, Sawako Suzuki, Shoji Yamanaka, Satoshi Fujii, Yasuo Terauchi, Jun Shirakawa

  • July 21, 2026

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