NDLI: ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report

Content Provider	Springer Nature : BioMed Central
Author	Wang, Yikai Shuang, Weibing
Abstract	Background Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of overt Cushing’s syndrome (CS), which usually manifests as bilateral macronodular adrenal nodules and varying levels of cortisol secretion. Previous studies have shown that ARMC5 play a huge role in the occurrence of PBMAH, which may be inherited to family members and lead to more severe clinical symptoms. ARMC5 variants may be associated with meningiomas, which is also illustrated by our report. Case presentation This is a 41-year-old male patient with high blood pressure for 10 years and multiple adrenal nodules on both sides. In addition, the patient also suffered from pituitary microadenoma and meningioma. According to the patient’s clinical manifestations, laboratory tests, imaging examinations, and the results of whole exon gene testing, we diagnosed the patient with PBMAH. The patient underwent a posterior laparoscopic nephrectomy of the left adrenal gland. Pathology reported a left macronodular adrenal hyperplasia, multifocal, 2 cm to 3 cm in diameter. Molecular analysis of DNA extracted from the patient’s peripheral blood revealed an ARMC5 heterozygous mutation, which was classified as likely pathogenic. Conclusion Screening of family members of PBMAH patients with ARMC5 germline mutations and active monitoring of family members carrying ARMC5 variants are recommended.
Related Links	https://bmcmedgenomics.biomedcentral.com/counter/pdf/10.1186/s12920-025-02112-9.pdf
Ending Page	5
Page Count	5
Starting Page	1
File Format	HTM / HTML
ISSN	17558794
DOI	10.1186/s12920-025-02112-9
Journal	BMC Medical Genomics
Issue Number	1
Volume Number	18
Language	English
Publisher	BioMed Central
Publisher Date	2025-03-10
Access Restriction	Open
Subject Keyword	Human Genetics Microarrays Gene Expression ARMC5 gene Primary bilateral macronodular adrenal hyperplasia Cushing's syndrome Meningiomas
Content Type	Text
Resource Type	Case study
Subject	Genetics (clinical) Genetics
Journal Impact Factor	2.1/2023
5-Year Journal Impact Factor	2.5/2023

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia

Intermittent Blurry Vision: An Unexpected Presentation of Cushing's Syndrome Due to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH).

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)

ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report

Similar Documents

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia

Intermittent Blurry Vision: An Unexpected Presentation of Cushing's Syndrome Due to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH).

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)

ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report