From DNA to Parenthood: How Genetics Play a Role in Male Infertility

Male infertility is a growing concern worldwide, contributing to nearly half of all infertility cases. While there are many causes, genetic factors account for 15%-30% of male infertility cases. Despite their significant role, genetic conditions are often overlooked during infertility assessments. Understanding the genetic components of male infertility can help in diagnosing the condition accurately and tailoring effective treatment plans.

The Genetic Basis of Male Infertility

According to Dr Vivek Kakkad, IVF Specialist at Birla Fertility and IVF, Ahmedabad, several genetic disorders can affect male fertility, including cystic fibrosis (CF), Klinefelter syndrome, Y chromosome microdeletions, and Kallmann syndrome. These conditions impact sperm production, motility, or transport, leading to infertility.

For instance, congenital bilateral absence of the vas deferens (CBAVD), a condition linked to cystic fibrosis, causes obstructive azoospermia, where sperm is produced but cannot be transported. In such cases, assisted reproductive techniques (ART), including sperm retrieval procedures and intracytoplasmic sperm injection (ICSI), can help affected men father children.

Similarly, in Klinefelter syndrome, where men have an extra X chromosome (XXY), sperm retrieval through micro-TESE (microsurgical testicular sperm extraction) can be beneficial. For men with Kallmann syndrome, a hormonal disorder affecting puberty and fertility, hormone replacement therapy is the most suitable treatment.

Dr Madhulika Sharma, IVF Specialist at Birla Fertility and IVF, Meerut, says that genetic factors influence sperm formation, motility, and overall semen quality. Men experiencing low sperm count, reduced motility, or low semen volume should consider genetic testing to identify potential underlying causes.

In cases of non-obstructive azoospermia, Y chromosome microdeletions or chromosomal abnormalities are often responsible, while obstructive azoospermia is frequently linked to CFTR gene mutations.

Genetic testing plays a crucial role in diagnosing male infertility. Dr Sharma says that in couples experiencing recurrent implantation failure or pregnancy loss despite normal sperm parameters, karyotyping for Robertsonian translocation should be considered. This genetic rearrangement can cause embryo development issues, leading to miscarriage. Oligozoospermia (low sperm count) often necessitates an assessment of Y chromosome microdeletions, while sperm DNA fragmentation testing is recommended for men with reduced motility.

Moreover, genetic screening is essential for couples where the female partner has a known genetic condition. Preimplantation genetic testing (PGT) combined with in vitro fertilisation (IVF) can help select healthy embryos, significantly increasing the chances of a successful pregnancy.

For men with genetic infertility, ART offers hope. According to Dr Kakkad, semen analysis, hormone profiling, and genetic testing are vital for understanding the condition and customising treatment. Genetic counselling is also recommended to assess the risk of passing on hereditary conditions to offspring. In cases where treatment options are limited, couples may consider donor sperm or adoption.

Despite the emotional challenges of infertility, advancements in reproductive medicine provide promising solutions. With accurate diagnosis, personalised treatment, and proper medical guidance, many men with genetic infertility can achieve fatherhood and experience the joy of parenthood.

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