Punjani Nahid, Kang Caroline, Lamb Dolores J, Schlegel Peter N
Department of Urology, Weill Cornell Medical College, New York, NY, USA.
Englander Institute for Precision Medicine, Weill Cornell Medical College, New York, NY, USA.
Arab J Urol. 2021 Jul 22;19(3):206-214. doi: 10.1080/2090598X.2021.1954415. eCollection 2021.
: To provide a summary of the current evaluation of azoospermia and insights into future perspectives in the evaluation and counselling of men with azoospermia. : A search of PubMed, Cochrane Reviews and Web of Science databases was performed for full-text English-language articles published between 1943 and 2020 focussing on 'future perspectives', 'azoospermia' and 'evaluation'. : Azoospermia represents a severe form of male infertility characterised by sperm production so impaired that there are no sperm present in the ejaculate. The current evaluation of azoospermia focusses on patient history and physical examination with selected adjunctive laboratory investigations including serum hormones, a karyotype and screening for Y chromosome microdeletions. Future diagnostics are focussed on identifying the underlying genetic aetiologies for azoospermia, as well as a greater emphasis on screening for systemic illness that men with severe infertility may be predisposed to develop. : Azoospermia represents an extreme form of male infertility, and evaluation relies heavily on history and physical examination, as genetic evaluations for these individuals remain limited. Future evaluation will focus on next-generation sequencing and more rigorous evaluation for possible co-existing and future risk of systemic disease. : ADGRG2, adhesion G protein-coupled receptor G2; ASRM: American Society of Reproductive Medicine; AZF: azoospermia factor; CBAVD: congenital bilateral absence of the vas deferens; CFTR: cystic fibrosis transmembrane conductance regulator; CRKL: CRK-like proto-oncogene; E2F1: E2F transcription factor 1; HAUS7: HAUS augmin-like complex subunit 7; HR: hazard ratio; KS: Klinefelter syndrome; MAZ, MYC-associated zinc finger protein; NGS: next-generation sequencing; NOA: non-obstructive azoospermia; OA: obstructive azoospermia; RHOX: reproductive homeobox on the X chromosome; SH2: SRC homology 2; TAF7L: TATA-box binding protein associated factor 7-like; TEX11: testis-expressed 11; WES: whole-exome sequencing.
总结目前对无精子症的评估情况，并深入探讨无精子症男性评估与咨询的未来展望。
检索PubMed、Cochrane系统评价和科学引文索引数据库，查找1943年至2020年间发表的聚焦于“未来展望”“无精子症”和“评估”的英文全文文章。
无精子症是男性不育的一种严重形式，其特征是精子生成严重受损，以致射精中无精子。目前对无精子症的评估集中于患者病史和体格检查，并辅以特定实验室检查，包括血清激素、核型分析及Y染色体微缺失筛查。未来诊断将聚焦于确定无精子症的潜在遗传病因，并更加强调对严重不育男性可能易患的全身性疾病进行筛查。
无精子症是男性不育的极端形式，评估严重依赖病史和体格检查，因为对这些个体的基因评估仍然有限。未来评估将侧重于二代测序以及对可能并存的全身性疾病和未来患病风险进行更严格的评估。
（相关缩写注释：ADGRG2，黏附G蛋白偶联受体G2；ASRM：美国生殖医学学会；AZF：无精子症因子；CBAVD：先天性双侧输精管缺如；CFTR：囊性纤维化跨膜传导调节因子；CRKL：CRK样原癌基因；E2F1：E2F转录因子1；HAUS7：HAUS类动粒样复合体亚基7；HR：风险比；KS：克氏综合征；MAZ，MYC相关锌指蛋白；NGS：二代测序；NOA：非梗阻性无精子症；OA：梗阻性无精子症；RHOX：X染色体上的生殖同源框；SH2：SRC同源2；TAF7L：TATA框结合蛋白相关因子7样；TEX11：睾丸表达蛋白11；WES：全外显子组测序）
