Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia
Our work provides new insights into the management of primary bilateral macronodular adrenal hyperplasia (PBMAH): i) MACS and NFAT patients with radiologically suspected PBMAH (i.e., bilateral benign adrenal macronodules) may require equal clinical attention; ii) we identified seven novel ARMC5 pathogenic variants; iii) multiple confluent adrenal nodules on imaging demonstrate predictive value for ARMC5 pathogenic mutations, refining genetic screening criteria.
Authors
- Weijie Ma (ORCID: https://orcid.org/0000-0002-4434-1371)
- Huixin Zhou
- Yaqi Yin (ORCID: https://orcid.org/0000-0002-5342-8241)
- Huaijin Xu (ORCID: https://orcid.org/0000-0002-8004-8324)
- Yajing Wang (ORCID: https://orcid.org/0000-0002-7679-8384)
- Kang Chen (ORCID: https://orcid.org/0000-0002-6305-0908)
- Bing Li (ORCID: https://orcid.org/0000-0001-5363-7070)
- Mu Yiming (ORCID: https://orcid.org/0000-0002-9623-6944)
- Zhaohui Lyu (ORCID: https://orcid.org/0000-0003-1029-2126)
- Weijun Gu
Institutions
- Nankai University (CN)
- Chinese PLA General Hospital (CN)
Publication Details
- Journal
- Endocrine Connections
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1530/ec-25-0290
- Primary Topic
- Pituitary Gland Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00