Genetics and clinical characteristics of Korean patients with bilateral macronodular adrenocortical disease

This study in a Korean cohort with BMAD showed that P/LP ARMC5 variants were present in 22.9% of the genetically investigated patients and were associated with more severe radiological and steroidogenic features. These findings underscore the importance of closely monitoring patients with BMAD who carry ARMC5 P/LP variants.

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Publication Details

Journal
European Journal of Endocrinology
Published
2026-01-15
DOI
https://doi.org/10.1093/ejendo/lvag014
Primary Topic
Pituitary Gland Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Genetics and clinical characteristics of Korean patients with bilateral macronodular adrenocortical disease

Seung Shin Park, Taek Min Kim, Jee‐Soo Lee, J S Kim et al.
European Journal of Endocrinology
Pituitary Gland Disorders and Treatments
article

Genetics and clinical characteristics of Korean patients with bilateral macronodular adrenocortical disease

Seung Shin Park, Taek Min Kim, Jee‐Soo Lee, J S Kim, Sung Sup Park, Man Ho Choi, Yunna Lee, Young-Gon Kim, Kyu Eun Lee, Su-Jin Kim
article en

Abstract

This study in a Korean cohort with BMAD showed that P/LP ARMC5 variants were present in 22.9% of the genetically investigated patients and were associated with more severe radiological and steroidogenic features. These findings underscore the importance of closely monitoring patients with BMAD who carry ARMC5 P/LP variants.

European Journal of EndocrinologyVol. 194(2)
Korea Institute for Advanced Study (KR), New Generation University College (ET), Seoul National University Hospital (KR)
Openalex Percentile: Top 84%
Pituitary Gland Disorders and Treatments
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