azzospermia and severe oligozoospermia correlation with chromosomal abnormalities

chromosomal abnormalities in male infertility patients

1. Chromosomal abnormalities with azoospermia and severe oligozoospermia a multicentric review. Author DR.Sweta Agrawal Mbbs , MS, DRM DGE (Germany ) Consultant Ashoka IVF Care Bhopal Dr.Ratna Agrawal Director embryology Ashoka group of hospitals Past chairman Embryology ISAR

2. Introduction According to the World Health Organization, 10–15 % of couples of reproductive age are affected by infertility, and 40–50 % of these cases are associated with acquired and idiopathic male infertility factors. Progress during the past few years has shown that infertile men have an 8–10-fold higher prevalence of chromosomal abnormalities than fertile men . Translocations disturb the formation of the synaptonemal complex and meiotic recombination. As a result, meiotic arrest and a high frequency of infertility are observed .

3. Aim & Objective To study the incidence of the chromosome abnormalities and Y chromosome microdeletions in Indian patients with azoospermia and severe oligozoospermia correlations between cytogenetic findings and the abnormal results of semen analyses. To develop a more efficient screening program to benefit prospective patients, and provide information to assist with genetic counseling and the selection of more appropriate therapies.

4. Materials & methods prospective study. Between July 2018 to December 2022 Study was carried out at Ashoka IVF Raipur and Bhopal The study was conducted with the approval of our institutional ethics committee STATISTICAL ANALYSIS: Data was tabulated using Microsoft excel The data obtained, was evaluated by Chi - square test. Probability (p) values <0.05, were regarded as statistically significant.

5. Methods continue A total of 600 patients with azoospermia , severe oligozoospermia were enrolled in the study. Conventional chromosomal karyotyping was used to analyze the chromosome abnormalities. Genomic DNA was extracted from peripheral blood samples and polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions.

6. Inclusion criteria and Exclusion Criteria All the patients with oligozoospermia and azoospermia report from Ashoka Lab following WHO criteria were included in the study Patients with oligozoospermia and azoospermia reported due to medical disorders , obstruction were excluded from the study

7. Table 1 : Incidence of male infertility Results Infertile patients Male factors Female factors Other factors Total patients 4546 1300 1856 390 percentage 28.2% 36.5% 22%

8. Table 2: causes of male factors CAUSES numbers % AZOOSPERMIA 342 26.35% OLIGOZOSPERMIA 286 22.11% OBSTRUCTIVE ETIOLOGY 93 07.15% HORMONAL ETIOLOGY 200 15.38% OTHERS 379 29.15%

9. Table 3 : Distribution after excluding for medical disorders,environmental factors Azoospermia Oligozospermia Numbers 121 88

10. TABLE 3 : DISTRIBUTION OF AGE DISTRIBUTION OF AGE GROUP(YRS) AZOOSPERMIC MALE OLIGOZOOSPERMIC MALE >=25 16 08 26-30 24 10 31-35 23 13 36-40 24 12 41-45 18 07 46-50 11 06

11. Table 4 :Distribution according to cytogenetic abnormalities: Results of chromosomal aberration Azoospermia Oligozospermia Result 43 15 % 3.5% 1.7%

12. Distribution according to Y chr microdeletion test Results Numbers % Azoospermia 12 2.5% Oligozoospermia 05 3.125%

13. Follow up After positive chromosomal aberration results genetic counselling was done and they were explained regarding their options Patients with oligozoospermia can go for IcsI or IMSI and on Day 3 embryos can be washed and suspended cell can used after 48 hours for the PGT A ( non invasive testing ) To avoid the vertical transmission .

14. Discussion Previous research data have revealed that chromosomal aberrations are one of the major causes of azoospermia, oligospermia .

15. Conclusion We have made a correlation between the degree of spermatogenic failure and the presence of chromosomal aberrations. Our results have coincided with previous research data, thus confirming the importance of cytogenetic analyses to identify the cause of male infertility.

16. The existing data on chromosome aberrations are controversial, but there is growing evidence of its significance for reproduction and fertility. The role of cytogenetics in male infertility should be studied in more detail in regard to unsuccessful pregnancy achievement, even in patients with normozoospermia

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