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病例报告：克兰费尔特综合征可能预防脊髓延髓性肌萎缩的发生。

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy.

作者信息

Akanuma Haruna, Kadowaki Suguru, Kanai Kazuaki

机构信息

Department of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.

Department of Neurology, Ohta General Hospital Foundation, Ohta Nishinouchi Hospital, Kōriyama, Japan.

出版信息

Front Neurol. 2024 Feb 9;15:1340694. doi: 10.3389/fneur.2024.1340694. eCollection 2024.

DOI:10.3389/fneur.2024.1340694
PMID:38405402
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10884290/
Abstract

Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone triggers the onset of the disease. We report the case of a patient who had SBMA coincident with Klinefelter syndrome. He developed SBMA symptoms rapidly after receiving androgen replacement therapy for Klinefelter syndrome. No cases of coincident SBMA and Klinefelter syndrome have been reported, and if confirmed by further patients in future, that androgen hormones are strongly associated with the development and progression of SBMA in fact in humans.

摘要

脊髓延髓性肌萎缩症（SBMA）是一种X连锁隐性运动神经元疾病，由雄激素受体（AR）基因中胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复序列的扩增引起。据认为，异常AR蛋白与睾酮结合后发生核转位会引发该病。我们报告了一例患有SBMA且合并克兰费尔特综合征的患者。他在接受克兰费尔特综合征的雄激素替代治疗后迅速出现了SBMA症状。此前尚未有SBMA与克兰费尔特综合征合并的病例报告，如果未来有更多患者得到证实，那么事实上雄激素与人类SBMA的发生和进展密切相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/05e48f025315/fneur-15-1340694-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/45b903b979c6/fneur-15-1340694-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/21584a54a2a8/fneur-15-1340694-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/9c546ffcb63d/fneur-15-1340694-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/05e48f025315/fneur-15-1340694-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/45b903b979c6/fneur-15-1340694-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/21584a54a2a8/fneur-15-1340694-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/9c546ffcb63d/fneur-15-1340694-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e38/10884290/05e48f025315/fneur-15-1340694-g004.jpg

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本文引用的文献

1
Low XIST expression in Sertoli cells of Klinefelter syndrome patients causes high susceptibility of these cells to an extra X chromosome.Klinefelter 综合征患者的 Sertoli 细胞中低 XIST 表达导致这些细胞对额外 X 染色体的高易感性。
Asian J Androl. 2023 Nov 1;25(6):662-673. doi: 10.4103/aja202315. Epub 2023 May 16.
2
X-Chromosome Inactivation and Related Diseases.X染色体失活及相关疾病
Genet Res (Camb). 2022 Mar 27;2022:1391807. doi: 10.1155/2022/1391807. eCollection 2022.
3
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome.
对活检进行比较单细胞分析可阐明克氏综合征的发病机制。
Am J Hum Genet. 2021 Oct 7;108(10):1924-1945. doi: 10.1016/j.ajhg.2021.09.001.
4
Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA).脊髓和延髓肌肉萎缩症（SBMA）的发病机制、生物标志物和治疗方法。
J Neurol Neurosurg Psychiatry. 2020 Oct;91(10):1085-1091. doi: 10.1136/jnnp-2020-322949.
5
Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.克莱恩费尔特综合征：遗传学、神经心理学与内分泌学整合研究。
Endocr Rev. 2018 Aug 1;39(4):389-423. doi: 10.1210/er.2017-00212.
6
Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study.长期使用亮丙瑞林治疗脊髓性肌萎缩症和延髓性肌肉萎缩症：自然史对照研究。
J Neurol Neurosurg Psychiatry. 2017 Dec;88(12):1026-1032. doi: 10.1136/jnnp-2017-316015. Epub 2017 Aug 5.
7
Klinefelter Syndrome and medical treatment: hypogonadism and beyond.克兰费尔特综合征与医学治疗：性腺功能减退及其他方面
Hormones (Athens). 2015 Oct-Dec;14(4):531-48. doi: 10.14310/horm.2002.1622.
8
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease.克兰费尔特综合征伴发类似肯尼迪病的进行性肌肉萎缩。
Ann Indian Acad Neurol. 2012 Jul;15(3):227-9. doi: 10.4103/0972-2327.99730.
9
Current status of treatment of spinal and bulbar muscular atrophy.脊髓性肌萎缩症的治疗现状。
Neural Plast. 2012;2012:369284. doi: 10.1155/2012/369284. Epub 2012 Jun 7.
10
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