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Brief Report
Adrenal gland
Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim
Endocrinol Metab. 2020;35(1):188-191.   Published online March 19, 2020
DOI: https://doi.org/10.3803/EnM.2020.35.1.188
  • 3,707 View
  • 73 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFPubReader   ePub   

X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G>A).

Citations

Citations to this article as recorded by  
  • Ocular findings and genomics of X-linked recessive disorders: A review
    Asima Hassan, YaserR Mir, RajaA H Kuchay
    Indian Journal of Ophthalmology.2022; 70(7): 2386.     CrossRef
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Original Article
Clinical Study
Characteristics of Korean Patients with Primary Adrenal Insufficiency: A Registry-Based Nationwide Survey in Korea
A Ram Hong, Ohk-Hyun Ryu, Seong Yeon Kim, Sang Wan Kim
Endocrinol Metab. 2017;32(4):466-474.   Published online December 14, 2017
DOI: https://doi.org/10.3803/EnM.2017.32.4.466
  • 5,561 View
  • 64 Download
  • 14 Web of Science
  • 12 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   
Background

Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening condition. There are few Korean studies on PAI, and most have had small sample sizes. We aimed to examine the etiology, clinical characteristics, treatment, and mortality of PAI in Korean patients.

Methods

A nationwide, multicenter, registry-based survey was conducted to identify adults diagnosed with or treated for PAI at 30 secondary or tertiary care institutions in Korea between 2000 and 2014.

Results

A total of 269 patients with PAI were identified. The prevalence of PAI was 4.17 per million. The estimated incidence was 0.45 per million per year. The mean age at diagnosis was 49.0 years, and PAI was more prevalent in men. Adrenal tuberculosis was the most common cause of PAI in patients diagnosed before 2000; for those diagnosed thereafter, adrenal metastasis and tuberculosis were comparable leading causes. The etiology of PAI was not identified in 34.9% of cases. Of the patients receiving glucocorticoid replacement therapy, prednisolone was more frequently administered than hydrocortisone (69.4% vs. 26.5%, respectively), and only 27.1% of all patients received fludrocortisone. We observed an increased prevalence of metabolic disease and osteoporosis during the follow-up period (median, 60.2 months). The observed overall mortality and disease-specific mortality rates were 11.9% and 3.1%, respectively.

Conclusion

The prevalence of PAI is significantly lower in Koreans than in reports from Western countries. The high frequency undetermined etiology in patients with PAI suggests the need to reveal accurate etiology of PAI in Korea.

Citations

Citations to this article as recorded by  
  • Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
    Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lianshu Han, Yongguo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu
    Journal of Medical Genetics.2024; 61(1): 27.     CrossRef
  • Approach to the Patient: Diagnosis of Primary Adrenal Insufficiency in Adults
    Marianne Øksnes, Eystein S Husebye
    The Journal of Clinical Endocrinology & Metabolism.2023; 109(1): 269.     CrossRef
  • Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study
    Joonatan Borchers, Eero Pukkala, Outi Mäkitie, Saila Laakso
    The Journal of Clinical Endocrinology & Metabolism.2023; 108(11): 2879.     CrossRef
  • Primary Adrenal Insufficiency in Acute Progressive Systemic Inflammation Accompanied by Latent Tuberculosis: A Case Report
    Kasumi Nishikawa, Mizuki Nitta, Shoma Tanaka, Chiaki Sano, Ryuichi Ohta
    Cureus.2023;[Epub]     CrossRef
  • What factors have impact on glucocorticoid replacement in adrenal insufficiency: a real-life study
    S. Puglisi, A. Rossini, I. Tabaro, S. Cannavò, F. Ferrau’, M. Ragonese, G. Borretta, M. Pellegrino, F. Dughera, A. Parisi, A. Latina, A. Pia, M. Terzolo, G. Reimondo
    Journal of Endocrinological Investigation.2021; 44(4): 865.     CrossRef
  • Adrenal insufficiency
    Eystein S Husebye, Simon H Pearce, Nils P Krone, Olle Kämpe
    The Lancet.2021; 397(10274): 613.     CrossRef
  • Towards the tailoring of glucocorticoid replacement in adrenal insufficiency: the Italian Society of Endocrinology Expert Opinion
    A. M. Isidori, G. Arnaldi, M. Boscaro, A. Falorni, C. Giordano, R. Giordano, R. Pivonello, C. Pozza, E. Sbardella, C. Simeoli, C. Scaroni, A. Lenzi
    Journal of Endocrinological Investigation.2020; 43(5): 683.     CrossRef
  • Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
    Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim
    Endocrinology and Metabolism.2020; 35(1): 188.     CrossRef
  • Encountering COVID-19 as Endocrinologists
    Eun-Jung Rhee, Jung Hee Kim, Sun Joon Moon, Won-Young Lee
    Endocrinology and Metabolism.2020; 35(2): 197.     CrossRef
  • Prednisolone is associated with a worse bone mineral density in primary adrenal insufficiency
    Kathrin R Frey, Tina Kienitz, Julia Schulz, Manfred Ventz, Kathrin Zopf, Marcus Quinkler
    Endocrine Connections.2018; 7(6): 811.     CrossRef
  • The potential role for infections in the pathogenesis of autoimmune Addison’s disease
    A Hellesen, E Bratland
    Clinical and Experimental Immunology.2018; 195(1): 52.     CrossRef
  • Evaluation and Treatment of Adrenal Dysfunction in the Primary Care Environment
    Shannon Cole
    Nursing Clinics of North America.2018; 53(3): 385.     CrossRef
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