The frequency of cytogenetic abnormalities in idiopathic oligospermia and azoospermia infertile men in Chaharmahal and Bakhtiari province: a cross-sectional study

Abstract

Background and aims: Infertility is one of the main health issues in families worldwide. In addition, there is a complex correlation between genetics and infertility and chromosomal abnormalities are found in 8% of infertile males. The aim of this study was to determine the frequency of cytogenetic abnormalities among idiopathic oligospermia and azoospermia infertile men who were treated in Chaharmahal and Bakhtiari province. Methods: In this cross-sectional study, the records of a total of 100 participants were evaluated retrospectively. The patients who were under careful physical and para-clinical (i.e., hormonal, ultrasound, and spermiogeram) examinations were enrolled in the study. Chromosomal analysis was carried out on the cultures of peripheral blood lymphocytes by Giemsa (G) banding. Eventually, 10 well-spread metaphases were analyzed by G-banding. Result: The chromosome abnormality frequency, the numerical type, and the structural type were 13%, 3%, and 10%, respectively. Among patients with azoospermia, two cases had Klinefelter syndrome with karyotype. Conclusion: This study demonstrated that structural abnormalities are more prevalent than numerical abnormalities in infertile men who were treated in Chaharmahal and Bakhtiari province. This indicates the importance of cytogenetic examination and the relevance of its achievements to the patient’s management in infertility clinics. Therefore, the cytogenetic test is proposed for infertile men, in particular in those who endure azoospermia.

Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience

“…During meiosis, the pairing and synapse of the X and Y chromosomes are altered due to DNA repeats in certain regions of the Y chromosome, which can reduce reproductive capacity [20][21]. Similarly, we believe that molecular studies will help identify more precise roles for heterochromatin and chromosomal polymorphic variations, which have yet to be realized.…”

“…The European Research Journal 2023 satellites or bodies of chromosomes 13,14,15,21,22. Chromosomal polymorphisms may be associated with infertility and recurrent pregnancies resulting in miscarriage (RSA).…”

Bất thường di truyền ở bệnh nhân vô tinh đến khám tại Bệnh viện Phụ sản - Nhi Đà Nẵng

“…Trong nghiên cứu của chúng tôi, có 2 trường hợp bị Hội chứng Klinelfelter (đều có nhiễm sắc đồ là 47, XXY), chiếm tỉ lệ 3,2%. Tỉ lệ này cũng tương đương nghiên cứu của Arafa MM và cs: 5,5% (18/325) [12],của Jafari-Ghahfarrokhi H và cs: 3,3% (2/60) [18] nhưng lại thấp hơn so với nghiên cứu của Nguyễn Hoàng Bắc và cs: 11,8% (36/306) [14],của Zhao P và cs: 21,2% (7/33) [16]. 80-90% hội chứng này có nhiễm sắc đồ là 47XXY, 10-20% còn lại là thể khảm (47,XXY/46,XY), lệch bội mức độ cao (48,XXXY or 48,XXYY) hoặc NST X có cấu trúc bất thường (ví dụ 47,iXq,Y).…”

“…Trong nghiên cứu của chúng tôi, 4,3% trường hợp tăng chiều dài vùng dị nhiễm sắc chất trên cánh dài NST Y (46, XY,Yqh+). Tỉ lệ này cũng tương đương nghiên cứu của Jafari-Ghahfarrokhi H và cs : 6% [18]. Tăng chiều dài vùng dị nhiễm sắc chất trên cánh dài NST Y được cho là đóng vai trò quan trọng trong quá trình sinh sản.…”