AI Article Synopsis
- The study aimed to assess the frequency and characteristics of Y chromosome microdeletions in infertile men in northeastern China for better treatment options.
- The research involved 1738 infertile men, utilizing sperm concentration measurements and karyotype analysis, with Y chromosome microdeletions detected through multiplex PCR.
- The findings revealed an 8.57% frequency of microdeletion, predominantly in the AZFc region, with most men experiencing azoospermia or severe oligozoospermia, and highlight the importance of genetic testing before considering advanced reproductive techniques like intracytoplasmic sperm injection.
Article Abstract
Objective: To determine the frequencies and the characteristics of Y chromosome microdeletion in infertile men from northeastern China to perform appropriate therapeutic choices.
Materials And Methods: The study included 1738 infertile men. Sperm concentration was measured according to standard methods and karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Multiplex polymerase chain reaction amplification using 9 specific sequence-tagged sites were selected to detect Y chromosome microdeletions.
Results: The data showed that the frequency of Y chromosome microdeletion was 8.57%. The most common microdeletion, among the azoospermia factor (AZF) regions, was detected in the AZFc region, followed by AZFb+c, AZFb, AZFa+b+c, AZFa, and AZFa+c. One-hundred seven patients with Y chromosome microdeletion developed azoospermia, 39 developed severe oligozoospermia (sperm concentration ≤5 × 10(6)/mL), and 3 developed moderate oligozoospermia (sperm concentration >5 × 10(6)/mL and ≤10 × 10(6)/mL). Karyotype analysis was available for 130 patients with Y chromosome microdeletion and abnormal karyotypes were found in 19 patients (14.6%). The most frequent abnormal karyotype was 46,X,Yqh-(n = 7).
Conclusion: In northeastern China, Y chromosome microdeletion diagnosis should be performed before the use of intracytoplasmic sperm injection in infertile men with sperm count ≤10 × 10(6)/mL, especially in men with azoospermia.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.urology.2013.04.017 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.
Brain Sci
December 2024
Faculty of Biomedical Engineering, Department of Medical Informatics and Aritificial Intelligence, Silesian University of Technology, Roosevelta 40, 41-800 Zabrze, Poland.
Background/objectives: 22q11.2 microdeletion syndrome (22q11DS) is a genetic disease caused by aberration of chromosome 22 that results in some phenotypic features and developmental disorders. This paper presents a cross-sectional study on speech and communication of Polish children with 22q11DS.
View Article and Find Full Text PDFA 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.
A 1.5 to 3 Mb microdeletion of chromosome 22q11.2 with loss of multiple genes including histone cell cycle regulator (HIRA) causes 22q11.
View Article and Find Full Text PDFMolecular cytogenetic study of the fetal genome in idiopathic recurrent pregnancy loss.
Int J Gynaecol Obstet
January 2025
Scientific Centre of Obstetrics, Gynecology and Perinatology, Almaty, Republic of Kazakhstan.
Objective: Despite numerous studies on the causes of recurrent pregnancy loss (RPL), nearly half of cases remain unidentified, which determines the research relevance. This study aims to investigate microchromosomal variations in the fetal genome associated with the development of idiopathic RPL.
Methods: The research was supported by the Centre for Molecular Medicine and the Research Institute of Obstetrics, Gynecology and Perinatology and conducted over a period of 2 years.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!