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患有WFS1谱系障碍 (沃尔夫拉姆综合征) 的男性的淋巴腺功能 - 一个欧洲队列视角
Julia Rohayem1,2, Olivia Cunningham3, Denise Williams4
1Department of Endocrinology and Diabetes, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.
Andrology
|April 29, 2025
概括
沃尔夫拉姆综合征 (WS) 显著影响男性生殖健康,57%的青少年经历了青春期停产和阴性双胞胎症. 丸功能和生育能力在患有这种罕见遗传疾病的男性中受损.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
背景情况:
- 沃尔夫拉姆综合征 (WS) 是一种超罕见的,进展性神经内分泌和神经退行性疾病,由WFS1基因突变引起.
- WS的特点是糖尿病,视力缩,中部无味糖尿病和感觉神经耳聋.
- 关于WS的年轻男性发生性腺功能和青春期进展的数据有限.
研究的目的:
- 评估患有沃尔夫拉姆综合征的青少年和年轻成年男性的丸内分泌功能.
- 为了评估被诊断为WS的男性的青春期进展.
- 研究WS对生殖能力和丸组织学的影响.
主要方法:
- 追溯审查21名男性 (16-30岁) 的医疗记录,WS在欧洲中心接受治疗.
- 评估荷尔蒙参数 (LH,FSH,) 和性激素治疗.
- 探讨勃起功能障碍,子组的精液分析和一个患者的丸活检.
主要成果:
- 57%的男性青少年患有WS表现出严重延迟或停止的青春期,需要替代.
- 28.6%的患者表现出亚临床的过高性性,而9.5%的患者表现出过低性性.
- 观察到丸功能受损,包括卵性精子和卵性精子,组织学证据表明莱迪格和塞尔托利细胞的改变和管状缩.
结论:
- 在WS的男性中,内分泌丸功能和生殖能力显著受损.
- 阴性腺和青春期停产影响了超过一半的WS青少年男性,可能是由于丸早衰.
- WS对男性生育能力产生负面影响,需要进一步研究生殖健康管理.
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