脆性X综合征男性患者的勃起功能障碍导致用非侵入性方法无法采集到精液(英文)

目的:报道脆性 X 综合征男性患者精子样本采集过程中的临床经验。方法:采用基于两种不同 PCR 的方法对患者进行脆性 X 综合征分子诊断。精子采集大部分根据世界卫生组织的实验室手册进行。结果:5位年龄在18—60岁的脆性 X 综合征男性患者均表现出意外的勃起功能障碍,导致我们无法从这些患者中采集到精子样本。这5个患者在不同的时间或者由不同医生进行检查都得到同样的结果。结论:勃起反射是健康男性的本能反应,勃起功能障碍可能与激素、组织器官发育或神经调控回路异常有关。由于文献报导脆性 X 综合征男性患者的激素水平正常,所以可能是后二者的异常或者其中之一的异常而引起该类病人的勃起功能障碍。这一发现可能有助于更好地理解脆性 X 综合征的临床范围和发病机制。

Erectile dysfunction in Fragile X patients

Aim:To study a possible defect in spermatogenesis of Fragile X syndrome(FXS)patients.Methods:Two different polymerase chain reaction(PCR)based methods were used for the molecular diagnosis of FXS.Sperm collection was done mostly according to the laboratory manual of the World Health Organization.Results:We failed to collect sperm samples from five Fragile X subjects aged 18-60 years as a result of an unexpected erectile dysfunction(ED). Multiple examinations of the same subject at different times,and of different subjects from different provinces by different physicians,showed the same result consistently in all five subjects examined.Conclusion:Erectile reflex is an instinctive response in all healthy males.The absence of erection can be caused by hormonal,physical or neuronal malfunction.As hormonal profiles were reported to be generally normal in Fragile X men,we propose that an unknown physical factor or the neuronal circuit,or both,underlying the erection is compromised.The finding of ED in Fragile X patients may help better understand the clinical spectrum and pathogenesis of the disease.(Asian J Androl 2006 Jul;8:483-487)