重视无精子症的病因诊断

Importance Should Be Attached to the Causes of Azoospermia

无精子症指离心后精液沉淀未检出精子。通过详尽的病史收集和仔细的体格检查,临床医生可以初步判定无精子症的病因。睾丸性或睾丸前性无精子症,应进行基因和促性腺激素的检测;建议对先天性双侧输精管缺如和原发性附睾梗阻性无精子症患者,行囊性纤维化跨膜传导调节因子(CFTR)基因突变的检测,以防子代囊性纤维化的发生。卵泡刺激素和抑制素B与睾丸体积结合,有助于对睾丸的生精功能作出判断;当睾丸体积正常时,诊断性睾丸穿刺可以进一步鉴别无精子症是梗阻性还是睾丸性。输精管造影仅在精道重建手术时施行,可以确定梗阻位置,又避免损伤。

Abstract： Azoospermia is determined when no spermatozoa can be detected on high-powered microscopic examination of a pellet after centrifugation of the seminal fluid. A physician can initially identify the causes of azoospermia by an exhausted history and a complete physical examination. Men with testicular or pretesticular azoospermia should be offered genetic testing and measurement of serum sex hormones to exclude genetic abnormalities or hypogonadism. And the CFTR mutation test should be recommended to exclude the possibility of CF present in the offspring when azoospermia is related to CBAVD or primary epididymal obstruction. Testieular size, inhibin B levels and serum FSH concentration help to evaluate spermatogenesis of the testis, and diagnostic testicular biopsy can further distinguish obstructive causes from testicular failure in case of normal-sized testes. Vasography may be used to identify the site of obstruction, but only when reconstructive surgery is performed.