ArticleBasic and clinical andrology2023
Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men.
Article in Basic and clinical andrology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Micro-TESE in Non-Obstructive Azoospermia: Phenotype-Guided Hormonal Optimization and Testosterone Response-Prognostic Biomarker or Therapeutic Target?Journal of clinical medicine · 2026Review
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- Predictive factors of c-TESE success in eastern algerian patients with non-obstructive azoospermia: role of histology, hormones, and testicular volume.Basic and clinical andrology · 2026Article
- Evaluation of the predictors of successful sperm retrieval of micro-TESE in cases with mosaic Klinefelter versus cases with non-mosaic Klinefelter: a prospective case series study.Basic and clinical andrology · 2025Article
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- 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 complex systems approach to mosaic loss of the Y chromosome.GeroScience · 2025Review
- Successful sperm retrieval by microdissection testicular sperm extraction in a man with partial AZFb deletion: a case report.Translational andrology and urology · 2025Article
- Correction: Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men.Basic and clinical andrology · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundStructural abnormalities as well as minor variations of the Y chromosome may cause disorders of sex differentiation or, more frequently, azoospermia. This study aimed to determine the prevalence of loss of Y chromosome material within the spectrum ranging from small microdeletions in the azoospermia factor region (AZF) to complete loss of the Y chromosome in azoospermic men.
resultsEleven of 865 azoospermic men (1.3%) collected from 1997 to 2022 were found to have a karyotype including a 45,X cell line. Two had a pure 45,X karyotype and nine had a 45,X/46,XY mosaic karyotype. The AZF region, or part of it, was deleted in eight of the nine men with a structural abnormal Y-chromosome. Seven men had a karyotype with a structural abnormal Y chromosome in a non-mosaic form. In addition, Y chromosome microdeletions were found in 34 men with a structural normal Y chromosome. No congenital malformations were detected by echocardiography and ultrasonography of the kidneys of the 11 men with a 45,X mosaic or non-mosaic cell line.
conclusionsIn men with azoospermia, Y chromosome loss ranging from small microdeletions to complete loss of the Y chromosome was found in 6.1% (53/865). Partial AZFb microdeletions may give a milder testicular phenotype compared to complete AZFb microdeletions.
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