ArticleEuropean journal of human genetics : EJHG2014
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- The first Australian evidence-based guidelines on male infertility.The Medical journal of Australia · 2025Guideline
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology · 2014Guideline
- Trial
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Article
- Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.Basic and clinical andrology · 2025Article
- A New Sperm Concentration Threshold for Y Chromosome Microdeletion Analysis in Infertile Men: Could It Be Azoopermia?Urology research & practice · 2024Article
- Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.Journal, genetic engineering & biotechnology · 2023Article
- High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.Scientific reports · 2023Article
- Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.Nature communications · 2023Article
- Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India.Molecular genetics & genomic medicine · 2021Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- Article
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- Histology and sperm retrieval among men with Y chromosome microdeletions.Translational andrology and urology · 2021Review
- Y-microdeletions: a review of the genetic basis for this common cause of male infertility.Translational andrology and urology · 2021Review
- Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?Human genetics · 2021Review
- Clinical outcomes of microdissection testicular sperm extraction and intracytoplasmic sperm injection in Japanese men with Y chromosome microdeletions.Reproductive medicine and biology · 2020Article
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.Molecular cytogenetics · 2020Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 × 10(6)/ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with ≤2 × 10(6)/ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.
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