{"id":194,"title":"TEX15 variants in male infertility: a real-world cohort study","title_zh":"男性不育中的TEX15基因变异：一项真实世界队列研究","url":"https://pubmed.ncbi.nlm.nih.gov/42970181","doi":"10.1007/s10815-026-04055-1","pmid":"42970181","journal":"J Assist Reprod Genet","kind":"paper","lang":"en","published_at":"2026-11-02T00:00:00+00:00","fetched_at":"2026-11-08T03:43:57+00:00","authors":["Graziani A","Grande G","Rocca MS","Caretta N","Di Mambro A","Garolla A","Merico M","Masi G","Palego P","Scala A","Selice R","Vinanzi C","De Toni L","Ferlin A"],"primary_topic":"male","topics":[{"slug":"male","score":8.0,"hits":["azoospermia","male infertility","seminal","sperm","testicular"]},{"slug":"art-clinical","score":5.0,"hits":["infertile","infertility"]},{"slug":"repro-endo","score":2.0,"hits":["estradiol","fsh"]}],"topic_score":8.0,"preference_score":0.0,"preference_labels":[],"llm_score":69.0,"final_score":69.0,"score_dims":{"novelty":60,"rigor":58,"impact":62,"relevance":88,"translation":70},"recommend_reason":"针对临床常见的TEX15变异解读困境给出真实世界数据，提示杂合变异不宜作为诊断依据，对男性不育遗传咨询有直接提醒价值；但阳性组仅7例、结论受敏感性分析削弱，证据强度有限。","keywords":["TEX15","男性不育","原发性睾丸功能衰竭","基因变异解读","无精子症","遗传咨询"],"selected":1,"story_id":199,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-gametes","source_name":"PubMed · 配子与性腺","source_tier":1,"mention_count":2,"has_interpretation":false,"journal_key":"jarg","journal_tier":"standard","journal_if":3.0,"is_mock":false,"summary_zh":"该回顾性单中心研究纳入原发性睾丸功能异常患者，比较携带孤立TEX15变异的7例与145例无明确遗传学改变的不育对照。结果显示TEX15变异占队列0.9%，未发现致病性双等位变异；与对照相比，TEX15阳性者FSH更低（p=0.031）、精子浓度与总数更高（p=0.002），无无精子症（对照62.1%，p=0.002），而LH、睾酮、雌二醇及睾丸体积无差异；排除生物学上不典型个体后多数差异减弱。作者认为孤立尤其杂合TEX15变异表型特异性有限，常规男性不育诊断中应谨慎解读，需功能验证。","summary":"PURPOSE: To evaluate the clinical phenotype and interpretability of TEX15 gene variants in a real-world cohort of patients with primary testicular disease. METHODS: We conducted a retrospective single-center study including patients with primary testicular dysfunction. Patients carrying isolated TEX15 gene variants (n = 7) were compared with a pathological control group (n = 145) from a cohort of infertile patients with primary testicular failure without identifiable genetic alterations. Clinical, hormonal, and seminal parameters were analyzed using non-parametric tests. Effect size was estimated using Cliff's delta. RESULTS: TEX15 gene variants were identified in 0.9% of the cohort. No pathogenic biallelic variants were identified. Compared to pathological controls, TEX15-positive patients showed lower FSH concentrations (p = 0.031), higher sperm concentration (p = 0.002), and higher total sperm count (p = 0.002). Azoospermia was absent among TEX15 cases but present in 62.1% of controls (p = 0.002). No significant differences were observed in LH, testosterone levels, estradiol concentrations, or testicular volume. Sensitivity analyses excluding biologically atypical subjects attenuated most observed differences. Overall, TEX15-positive patients showed heterogeneous clinical presentations with limited phenotypic specificity compared to other forms of primary testicular dysfunction. CONCLUSIONS: Our findings indicate that TEX15 gene variants, particularly in heterozygous state, have limited clinical interpretability and do not define a clearly distinguishable clinical phenotype. These findings suggest that isolated TEX15 variants, particularly in heterozygous state, should be interpreted cautiously in routine male infertility diagnostics pending further functional validation.","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}