# Primary Bilateral Macronodular Adrenal Hyperplasia Associated With ARMC5 Variant and Pituitary Microadenoma

**Authors:** Lucía O’Connor-Ramiro, Pablo J Fernández, Julia Maroto, Ana Patiño-García, Javier Escalada, Carolina M Perdomo

PMC · DOI: 10.1210/jcemcr/luaf288 · JCEM Case Reports · 2026-01-06

## TL;DR

A 63-year-old man with a rare adrenal condition and a genetic variant also had a pituitary tumor, highlighting a possible link between adrenal and pituitary issues.

## Contribution

This is the second reported case linking PBMAH, an ARMC5 variant, and a pituitary microprolactinoma.

## Key findings

- The patient had PBMAH with an ARMC5 variant and features of mild Cushing syndrome.
- A pituitary microprolactinoma was identified alongside adrenal hyperplasia.
- Right adrenalectomy was performed due to increased adrenal uptake on scintigraphy.

## Abstract

We report a case of primary bilateral macronodular adrenal hyperplasia (PBMAH) in a 63-year-old man with a novel germline armadillo repeat-containing protein 5 (ARMC5) variant of uncertain significance (c.2525T > C; p.Phe842Ser). Imaging and clinical findings revealed markedly enlarged bilateral adrenal glands and features of mild Cushing syndrome (CS). Clinical suspicion and recommendations from guidelines prompted genetic testing. Initial management focused on controlling comorbidities and monitoring hypercortisolism. Aberrant receptor testing was negative. Progression to overt CS prompted a nor-cholesterol scintigraphy scan, revealing higher uptake in the right adrenal gland. Right adrenalectomy was performed. Concurrent findings of hypogonadotropic hypogonadism and hyperprolactinemia led to the diagnosis of a pituitary microprolactinoma on magnetic resonance imaging. To our knowledge, this is the second reported case of PBMAH associated with a pituitary adenoma in the context of an ARMC5 variant.

## Linked entities

- **Genes:** ARMC5 (armadillo repeat containing 5) [NCBI Gene 79798]
- **Diseases:** Cushing syndrome (MONDO:0018912), hypogonadotropic hypogonadism (MONDO:0018555), hyperprolactinemia (MONDO:0005804)

## Full-text entities

- **Genes:** ARMC5 (armadillo repeat containing 5) [NCBI Gene 79798] {aka AIMAH2}
- **Diseases:** hypogonadotropic hypogonadism (MESH:D007006), PBMAH (MESH:C565662), Pituitary Microadenoma (MESH:D010900), hyperprolactinemia (MESH:D006966), pituitary adenoma (MESH:D010911), pituitary microprolactinoma (MESH:D015175), CS (MESH:D003480)
- **Chemicals:** nor-cholesterol (-)
- **Mutations:** c.2525T > C

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12770818/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC12770818/full.md

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Source: https://tomesphere.com/paper/PMC12770818