男性不育的遗传学评估

Update of genetic evaluation for male infertility

无精子症或严重少精子症男性(<5×10 6/ml)在接受治疗之前应通过遗传学检测确定其不育的真正原因。正确区分梗阻性无精子症(obstructive azoospermia,OA)与非梗阻性无精子症(non-obstructive azoospermia,NOA)至关重要,因为相比于NOA(睾丸体积小、质地柔软、FSH水平升高),OA(正常的睾丸功能、睾丸体积以及FSH水平)的遗传学检测有所不同。在NOA患者人群中,病史回顾、体格检查和实验室检测对于遗传学检测方法的选择是必须的,尤其针对原发性睾丸衰竭或先天性低促性腺激素型性腺功能低下症的NOA患者。遗传学检测包括由于先天性输精管缺如所致OA的囊性纤维化跨膜传导调节因子的检测,和针对严重少精子症或NOA患者的染色体核型分析、Y染色体微缺失等其他特殊检测方法。这些遗传学检测能够帮助判定哪些患者适合药物和/或手术治疗。最新的遗传学分析技术将有助于男性不育的诊断和掌控。

Men with azoospermia or severe oligospermia （ 〈 5 × 10^6/ml） should have genetic testing to identify the reason for male infertility before treatment. Identification of obstructive azoospermia （OA） or non-obstructive azoospermia （NOA） is essential be- cause genetic testing differs for OA （ which has normal testicular function, testicular volume, and FSH） versus NOA （ which has small, soft testes and increased FSH）. Among patients with NOA, history and physical examination along with laboratory testing is required to choose genetic testing specifically for primary testicular failure or congenital hypogonadotropic hypogonadism （HH）. Genetic testing op- tions include cystic fibrosis transmembrane conductance regulator （ CFTR ） testing for men with OA due to congenital absence of the vas, while karyotype, Y chromosome microdeletions （ YCMD）, and other specific genetic tests may be indicated if patient has severe oligospermia or NOA. These genetic tests help to identify which patients may benefit from medical and/or surgical intervention. The most recent techniques for genetic analysis will improve diagnosis and management of male infertility.