Study Suggests Responsibility Is Shared, Men Also Accountable

Women are often blamed for infertility, but a new scientific study suggests that men are equally responsible, and advanced genetic testing could help uncover the hidden causes of male infertility.

The study offers new hope for couples struggling to conceive—especially those left without answers despite repeated medical tests and treatments. One of the biggest challenges in infertility care has been the inability to identify the exact cause in many cases.

India-based study highlights genetic causes of male infertility
Conducted in India, the study shows how new genetic technologies can help identify previously undetectable causes of male infertility. It also highlights homegrown scientific innovation in this field.

Published in the Journal of Assisted Reproduction and Genetics, the research analysed 247 Indian men with severe sperm abnormalities between 2021 and 2024. The study was carried out by the Frige Institute of Human Genetics, Ahmedabad, in collaboration with the Indian Council of Medical Research (ICMR).

Researchers say this is the largest and most systematic genetic study of male infertility conducted in India and among the few globally to use family-based genetic analysis.

Why infertility often goes undiagnosed in men
According to the study, many men appear healthy and show normal results in routine blood tests. However, semen analysis may reveal either no sperm or an extremely low sperm count. In most such cases, the underlying cause remains unknown.

Currently, most infertility clinics rely on standard genetic tests such as chromosomal analysis and Y-chromosome testing, which can only detect major genetic abnormalities.

Dr. Deepak Modi, scientist at the ICMR–National Institute for Research in Reproductive and Child Health, Mumbai, and a member of the research team, explained that chromosomal abnormalities were found in only three men, while Y-chromosome microdeletions were detected in eight men.

This means conventional tests could explain infertility in just 11 out of 247 cases, leaving the majority without a clear diagnosis.

Advanced DNA sequencing improves diagnosis
To address this gap, researchers turned to advanced DNA sequencing technologies. Targeted sequencing using SMMIP-based technology was carried out on 120 men, while whole exome sequencing (WES)—which often includes genetic analysis of the patient and both parents—was performed on 48 men.

Exome sequencing focuses on all protein-coding regions of genes, where most disease-causing mutations occur. This approach led to an additional 6–8% increase in diagnostic success, raising the total number of confirmed genetic diagnoses to 19 out of 247 men.

Recessive genes play a major role
The study found that most genes linked to male infertility follow a recessive inheritance pattern, meaning a man is affected only if he inherits faulty copies of a gene from both parents.

Some participants were found to have CFTR gene mutations, which can result in missing or blocked sperm-carrying ducts—conditions that often remain undetected without genetic testing.

Dr. Harsh Sheth, who developed the targeted sequencing technology used in the study, said the patented method can identify multiple genetic abnormalities in a single test, significantly reducing both cost and time.

Researchers believe wider use of such genetic tools could transform infertility diagnosis and help shift the narrative toward shared responsibility between men and women in infertility cases.