A Global Approach to the Long-Term Follow-Up of 17 Families With Bilateral Macronodular Adrenal Disease

Charchar, HLS; Alencar, GA; de Paula Mariani, BM; Kuhn, AW; de Camargo Silva, JT; Bouys, L; Vaduva, P; Nishi, MY; Ledesma, FL; Almeida, MQ; Srougi, V; Tanno, FY; Chambô, JL; Latronico, AC; Pereira, MAA; Bertherat, J; Mendonca, BB; Villares Fragoso, MCB

doi:10.1210/clinem/dgaf465

Adrenal disease

A Global Approach to the Long-Term Follow-Up of 17 Families With Bilateral Macronodular Adrenal Disease

J Clin Endocrinol MetabPublished 14 Aug 2025Retrospective cohort study

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Authors' conclusion

The proposed management flowchart highlights the importance of genetic screening and continuous monitoring to mitigate the adrenal insufficiency, MACS recurrence, and tumor risk, while underscoring the need for tailored therapeutic strategies in BMAD, adapted to genetic alterations and ARMC5 status.

Study context

Population: 17 familial and 9 sporadic bilateral macronodular adrenocortical disease (BMAD) cases (index cases and relatives), Brazilian tertiary center; follow-up 8 to 410 months50 index cases · 200 relatives
Participants: 250 participants

Exposure: ARMC5-positive vs ARMC5-wild-type BMAD cases
Outcome: Germline pathogenic/likely pathogenic ARMC5 variants

Methodological detailssingle tertiary centre, familial and sporadic cases

Single tertiary centre
Familial and sporadic cases

Main finding

As reported in the abstract

Carriers of germline pathogenic/likely pathogenic ARMC5 variants (26 index, 78 relatives): 104

Observational data: associations, not effects.

Further findings

Remission by surgery type

Adrenal-sparing surgery100%

Unilateral adrenalectomy40%

Hormonal profile of ARMC5-positive index cases

Higher urinary cortisol in ARMC5-positive index cases: P = 0.005
Higher salivary cortisol in ARMC5-positive index cases: P = 0.042
Higher post-dexamethasone suppression test cortisol in ARMC5-positive index cases: P = 0.005
Lower ACTH in ARMC5-positive index cases: P = 0.041
Lower DHEAS in ARMC5-positive index cases: P = 0.007

Adrenal nodule size

Index cases had larger adrenal nodules: P < 0.0001

Tumours

CNS meningiomas observed in BMAD patients independent of ARMC5 status
Malignant neoplasms notably prevalent among ARMC5-altered individuals

Original publication

A Global Approach to the Long-Term Follow-Up of 17 Families With Bilateral Macronodular Adrenal Disease. J Clin Endocrinol Metab. Published 14 August 2025. doi:10.1210/clinem/dgaf465

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