脊髓肌肉缩也是精子生成的一个障碍
Armelle Magot1, Arnaud Reignier2, Olivier Binois3
1Centre de Référence Des Maladies Neuromusculaires AOC, CHU de Nantes, Filnemus, Euro-NMD, Hôtel Dieu, Nantes, France. armelle.magot@chu-nantes.fr.
Orphanet journal of rare diseases
|December 20, 2024
概括
脊椎肌肉缩 (SMA) 的男性患者,特别是那些患有2型SMA的男性患者,经历了显著的生育障碍和异常的精子图结果. 这些问题与疾病严重程度相关,这强调了治疗前需要进行生育能力评估的必要性.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
背景情况:
- 脊柱肌缩 (SMA) 治疗旨在通过向SMN2基因来增加功能性SMN的产生.
- 由于对某些SMA疗法的动物毒性研究,人们对男性生殖健康,特别是精子生成产生了担忧.
研究的目的:
- 调查2型和3型脊柱肌缩 (SMA) 的成年男性患者的生育障碍和精子图异常.
- 评估SMA患者的生育问题,精子图参数和疾病严重程度之间的相关性.
主要方法:
- 一项描述性,横截面研究,涉及来自法国13个中心的68名成年男性SMA患者 (36名SMA2,32名SMA3).
- 收集的数据包括一般信息,运动严重程度 (使用运动功能测量 - MFM),泌尿病史,育儿和精子检查结果.
- 所有患者在开始RISDIPLAM治疗之前都进行了评估.
主要成果:
- 在41名评估患者中,在65.9%的患者中发现了生育障碍,在SMA类型2 (90.5%) 与SMA类型3 (40%) 相比,SMA类型2 (90.5%) 显著高.
- 在33名精子图的患者中,81%的精子度异常,30%的精子度异常.
- 异常与SMA类型 (p<0.001),运动严重程度,步行丧失年龄,轮椅使用时间和MFM分数 (p<0.01) 密切相关.
结论:
- 生育力障碍和精子图异常在男性 SMA 患者中普遍存在,特别是那些患有 SMA 2 型患者,并且与疾病严重程度相关.
- 精子度与SMA2型患者的MFM得分正相关.
- 在启动新型SMA疗法 (如Risdiplam) 之前,建议对精子图进行系统性评估,以了解和管理对男性生育能力的潜在影响.
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