An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical data from patients is important to establish new genotype–phenotype correlations. This process can be facilitated by using universal nomenclature, but no standardized vocabulary is available in the field of non-syndromic male infertility. The International Male Infertility Genomics Consortium aimed at filling this gap, providing a standardized vocabulary containing nomenclature based on the Human Phenotype Ontology (HPO). The “HPO tree” was substantially revised compared with the previous version and is based on the clinical work-up of infertile men, including physical examination and hormonal assessment. Some causes of male infertility can already be suspected based on the patient’s clinical history, whereas in other instances, a testicular biopsy is needed for diagnosis. We assembled 49 HPO terms that are linked in a logical hierarchy and showed examples of morphological features of spermatozoa and testicular histology of infertile men with identified genetic diagnoses to describe the phenotypes. This work will help to record patients’ phenotypes systematically and facilitate communication between geneticists and andrologists. Collaboration across institutions will improve the identification of patients with the same phenotypes, which will promote the discovery of novel genetic causes for non-syndromic male infertility.

在非综合征性男性不育症的背景下，越来越多的基因被描述。将非综合征性男性不育症的潜在遗传原因与患者的临床数据联系起来对于建立新的基因型-表型相关性非常重要。使用通用命名法可以促进这一过程，但在非综合征性男性不育领域没有标准化词汇。国际男性不育基因组学联盟旨在填补这一空白，提供包含基于人类表型本体论 (HPO) 的命名法的标准化词汇表。“HPO树”与之前的版本相比进行了大幅修改，并且基于不育男性的临床检查，包括体检和激素评估。根据患者的临床病史，已经可以怀疑男性不育的某些原因，而在其他情况下，需要进行睾丸活检才能诊断。我们组装了 49 个 HPO 术语，这些术语按逻辑层次相互联系，并展示了不育男性的精子形态特征和睾丸组织学示例，并通过确定的遗传诊断来描述表型。这项工作将有助于系统地记录患者的表型，并促进遗传学家和男科医生之间的沟通。跨机构的合作将改善对具有相同表型的患者的识别，这将促进发现非综合征性男性不育症的新遗传原因。