Genetic Testing in Nonobstructive Azoospermia and Idiopathic Male Infertility
Advances in Andrology: New Developments and Innovations, Springer Nature, ss.53-75, 2026
- Yayın Türü: Kitapta Bölüm / Araştırma Kitabı
- Basım Tarihi: 2026
- Doi Numarası: 10.1007/978-3-032-29112-7_3
- Yayınevi: Springer Nature
- Sayfa Sayıları: ss.53-75
- Anahtar Kelimeler: Advances in next-generation sequencing, Genetic counseling, Idiopathic, Karyotype analysis, Male infertility, Microarray techniques, Nonobstructive azoospermia, Y chromosome microdeletion testing
- Yozgat Bozok Üniversitesi Adresli: Evet
Özet
This chapter examines the integral role of epigenetic modifications in the pathology of nonobstructive azoospermia (NOA) and idiopathic male infertility, extending beyond traditional genetic and chromosomal abnormalities. The crucial involvement of DNA methylation, histone modifications, chromatin remodeling, and the functions of non-coding RNAs in male reproductive health are explored. The impact of DNA methyltransferases in gene regulation during germ cell development, abnormal methylation profiles associated with testicular dysfunction and infertility, the significance of histone modifications in chromatin structuring and the contribution of microRNAs and long non-coding RNAs to gene regulation in spermatogenesis are highlighted. Additionally, the advancements in karyotype analysis, Y chromosome microdeletion testing, and microarray techniques, emphasizing the potential of next-generation sequencing in uncovering novel genetic factors are addressed. The role of genetic counseling in providing comprehensive support to patients is also considered. This comprehensive analysis underscores the potential of epigenetic and genetic profiling in diagnosing and developing personalized therapeutic strategies for male infertility, advocating for its integration into routine infertility assessment to improve treatment precision and outcomes.