Recent studies have shown that a significant proportion of men with severe infertility had microdeletions of the Y-chromosome. It has thus become important to screen men with a high risk of the Y-chromosome microdeletions, as this will determine if counseling is needed prior to starting infertility treatment. The current state of knowledge about the nature of genes responsible for spermatogenesis and significance of microdeletions of the Y-chromosome for male infertility are analyzed in the review.
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A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.
Front Genet
January 2025
The Affiliated Women's and Children's Hospital of Chengdu Medical College, Sichuan Provincial Woman's and Children's Hospital, Chengdu, China.
Introduction: Usually, patients with sY84 or sY86 deficiency present with azoospermia, but recent studies have shown that some males with partial AZFa deletions, including sY84 or sY86, exhibit normal fertility. Here, we reported a rare case of AZF deletion in a family, where both father and son exhibited a deletion at the sY86 site in the AZFa region and a partial deletion in the AZFc region.
Methods And Results: Detection was performed using classical multiplex polymerase chain reaction and the "Male AZF Full-region Detection" Panel, revealing specific deletions in AZFa: Yq11.
Prevalence of AZFс Y chromosome microdeletions and association with spermatogenesis in Russian men from the general population.
Vavilovskii Zhurnal Genet Selektsii
November 2024
Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
The Y chromosome contains a set of genes with testis-specific expression that are responsible for the development of testes and spermatogenesis, and it is the most important target in the search for genetic causes of male infertility. Most of these genes are located in the "azoospermia factor" AZF locus (regions AZFa, AZFb, and AZFc) on the long arm of the Y chromosome. Microdeletions of the Y chromosome, leading to the removal of the entire AZF locus as well as one or more regions (complete deletions), are one of the leading causes of spermatogenesis impairment and infertility.
View Article and Find Full Text PDFPrevalence and comparative analysis of Y chromosome microdeletions in recurrent pregnancy loss.
J Appl Genet
December 2024
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
Recurrent pregnancy loss (RPL) is defined as the spontaneous loss of two or more pregnancies before reaching viability. Diagnosis for couples with RPL usually involves only the female partner. However, it is seen that male partners contribute equally to the occurrence of spontaneous abortions as the Y chromosome harbors several genes that control spermatogenesis and the quality of sperms.
View Article and Find Full Text PDFEffects of AZFc (b2/b4, b1/b3, b2/b3, and gr/gr) deletions and primary duplications on the outcomes of the first intracytoplasmic sperm injection treatment cycle: A single-center retrospective cohort study.
Andrology
December 2024
Reproductive Medicine Center, Prenatal Diagnosis Center, First Hospital of Jilin University, Changchun, China.
Background: Current advances in high-throughput sequencing technology enable the precise identification of Y chromosome microdeletion and primary duplication in infertile couples, but the mechanism and clinical significance of these mutations in assisted reproductive techniques remain unclear.
Objectives: To investigate the effects of AZFc (b2/b4, b1/b3, b2/b3, and gr/gr) deletions and primary duplications on the outcomes of the first intracytoplasmic sperm injection (ICSI) treatment cycle.
Methods: Y chromosome microdeletions and primary duplications in infertile men were detected using next-generation sequencing (NGS) technology.
Sperm retrieval, fertilization rates, and clinical outcomes of infertile men with Y chromosome microdeletion: A retrospective cohort study.
Can Urol Assoc J
December 2024
Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Introduction: In this study, we aimed to explore whether a Y chromosome microdeletion (YCM) confers adverse effects on surgical sperm retrieval potential and intracytoplasmic sperm injection (ICSI) outcomes in men with azoospermia and severe oligospermia.
Methods: This was a retrospective cohort study, which included infertile men with azoospermia or severe oligospermia who were evaluated for karyotype analysis and YCM testing at a university-affiliated hospital between 2010 and 2022. Outcomes of microdissection testicular sperm extraction (mTESE) for surgical sperm retrieval were compared between men diagnosed with YCM and the control group in which no YCM were found.
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