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Chromosomal variants among 1790 infertile men
Y Nakamura1, M Kitamura, K Nishimura
1Departments of Urology, Osaka University Medical School and Osaka Central Hospital, Osaka, and Hyogo Medical College, Hyogo, Japan.
Summary
Chromosomal abnormalities, including autosomal and sex chromosome issues, can impact male fertility and semen quality. Cytogenetic analysis is crucial for infertile men, especially before considering assisted reproductive technologies.
Area of Science:
- Human Genetics
- Reproductive Medicine
- Clinical Cytogenetics
Background:
- A large-scale cytogenetic survey was conducted on infertile men to investigate the impact of chromosomal abnormalities on semen quality.
- This study aimed to determine the prevalence and types of chromosomal abnormalities in a cohort of infertile males.
Purpose of the Study:
- To clarify the relationship between chromosomal abnormalities, including autosomal variations, and semen parameters in infertile men.
- To assess the diagnostic value of cytogenetic studies in male infertility management.
Main Methods:
- A retrospective analysis of male patients attending an infertility clinic between 1990 and 1998.
- Inclusion of chromosomal and semen analyses for all participating patients.
Main Results:
- Chromosomal abnormalities were detected in 12.6% (225/1790) of infertile men, with Klinefelter syndrome being the most common (64 cases).
- Autosomal anomalies were identified in 126 cases, with 46,XY,1qh(+) being the most frequent (30 cases), occurring significantly more often than in controls.
- Semen analysis results varied; some patients with 46,XY,1qh(+) had azoospermia, while others achieved natural pregnancies, indicating an unclear effect on spermatogenesis.
Conclusions:
- Both autosomal and sex chromosomal abnormalities may negatively affect spermatogenesis in infertile men.
- Pre-treatment cytogenetic evaluation is essential for infertile males, particularly before undertaking intracytoplasmic sperm injection (ICSI).