Male infertility is a growing anxiety worldwide, which contributes to almost half cases of all infertility. While there are many reasons, genetic factors account for 15% -30% of male infertility. Despite their important role, genetic conditions are often ignored during infertility assessment. Understanding genetic components of male infertility can help in correctly diagnosing the situation and stitching effective treatment plans.

A genetic base of male infertility

Dr. According to Vivek Kakkad, Birla Fertility and IVF experts at Ahmedabad, many genetic disorders can affect male fertility, including cystic fibrosis (CF), Clynfelter syndrome, Y chromosome microdelets and cortex syndrome. These conditions affect sperm production, mobility or transport, causing infertility.

For example, the congenital bilateral absence of Vas Deference (CBAVD), a condition associated with cystic fibrosis, causes obstructive azospormia, where sperm is produced but cannot be moved. In such cases, the aided reproductive technique (ART), including sperm recovery processes and intracetoplasmic sperm injection (ICSI), can help children the father of the affected men.

Similarly, in Clynfelter syndrome, where men have an additional XXY, sperm recovery can be beneficial through micro-TEES (microsurgical testicular sperm extraction). For men with Kalman syndrome, a hormonal disorder affecting puberty and fertility, hormone replacement therapy is the most appropriate treatment.

Dr. Madhulika Sharma, IVF experts from Birla Fertility and IVF, Meerut say that genetic factors affect sperm formation, mobility and overall semen quality. Men who experience low sperm calculations, low mobility, or low semen volume should consider genetic testing to identify potentially underlying causes.

In cases of non-esophagus azosporia, Y chromosome microdelets or chromosomal abnormalities are often responsible, while obstructive azospermia is often associated with CFTR gene mutations.

Genetic test plays an important role in diagnosing male infertility. Dr. Sharma says that in couples that experience recurrent implantation failure or loss of pregnancy despite normal sperm parameters, karyotyping should be considered for Robertsnian translation. This genetic recurrence can cause fetal development issues, causing abortion. Oligosospormia (low sperm calculations) often requires assessment of Y chromosome microdelets, while sperm DNA fission test is recommended for men with low mobility.

In addition, genetic screening is essential for couples where a female partner has a known genetic position. Preplantation genetic testing (PGT) combined with in vitro fertilization (IVF) can help select healthy fetus, which greatly increases the chances of a successful pregnancy.

For men with genetic infertility, art offers hope. Dr. According to Kakkad, semen analysis, hormone profileing and genetic testing are important for understanding the status and adapting treatment. A genetic consultation is also recommended to assess the risk of passing children on hereditary terms. In cases where treatment options are limited, pairs can consider donor sperm or adoption.

Despite the emotional challenges of infertility, progress in reproductive therapy provides a prolific solution. With accurate diagnosis, personal treatment and proper medical guidance, many men with genetic infertility can achieve paternity and experience the joy of paternity.

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