Male infertility affects a significant number of couples struggling to conceive, and in many cases, genetic factors play a crucial role. Understanding the genetic causes of male infertility can help in diagnosing and managing infertility effectively. If you and your partner have been facing difficulties in conceiving, consult Dr Chinmay Pataki one of the most experienced & best fertility specialists in Mumbai at Isha Women’s Hospital can provide the right guidance and treatment options.

How Does Genetics Affect Male Fertility?

Genetic abnormalities can impact sperm production, sperm function, or overall reproductive health. These abnormalities may be inherited or arise due to spontaneous mutations. Genetic testing plays a vital role in identifying these conditions and determining the appropriate fertility treatment.

Common Genetic Causes of Male Infertility

1. Klinefelter Syndrome (47, XXY)
Klinefelter Syndrome is one of the most common chromosomal disorders linked to male infertility. Men with this condition have an extra X chromosome (47, XXY instead of 46, XY). This leads to:
·       Low testosterone levels
·       Poor sperm production or azoospermia (absence of sperm)
·       Small testicles and reduced secondary sexual characteristics
·       Increased risk of other health conditions like osteoporosis

2. Y Chromosome Microdeletions
The Y chromosome carries genes essential for sperm production. Microdeletions in the Y chromosome, especially in the AZF (Azoospermia Factor) regions, can lead to reduced or absent sperm production.
·       AZFa and AZFb deletions: Typically result in complete absence of sperm production (azoospermia).
·       AZFc deletions: May allow some sperm production, but count and quality are often compromised.

3. Cystic Fibrosis Gene Mutations (CFTR Mutations)
Cystic fibrosis is a genetic disorder that affects the respiratory and digestive systems. However, men with CF or CFTR gene mutations may also have Congenital Bilateral Absence of the Vas Deferens (CBAVD), a condition in which the tubes that carry sperm (vas deferens) are missing or blocked.
·       These men produce sperm but cannot transport them naturally.

How Genetic Testing Helps in Male Infertility?
Genetic testing is a crucial step for couples facing infertility, especially when:
ü  There is severe Oligospermia (low sperm count) or Azoospermia.
ü  The male partner has a known genetic disorder or a family history of infertility.
ü  There have been recurrent IVF/ICSI failures or recurrent pregnancy loss.
ü  Cystic fibrosis mutations are suspected.

Genetic factors play a significant role in male infertility, and early diagnosis can help couples make informed decisions about their reproductive journey. Dr. Chinmay Pataki, Mumbai’s leading infertility specialist, along with his expert team at Isha Women’s Hospital, meticulously evaluates genetic factors contributing to infertility and crafts personalised treatment plans, ensuring the best possible outcomes for aspiring parents.

Treatment Options for Genetic Male Infertility

While genetic causes of male infertility cannot always be reversed, assisted reproductive technologies (ART) provide effective solutions:
ICSI (Intracytoplasmic Sperm Injection): Direct injection of a single sperm into an egg, ideal for cases with low sperm count or motility issues.
Micro-TESE (Microsurgical Testicular Sperm Extraction): A technique to retrieve sperm directly from the testes in men with non-obstructive azoospermia.

PGT (Preimplantation Genetic Testing): Ensures healthy embryo selection for couples with chromosomal abnormalities.
 If you or your partner are facing fertility challenges, Isha Women’s Hospital provides expert consultation, advanced genetic screening, and cutting-edge fertility treatments to maximize your chances of conception.

Book an appointment with Dr. Chinmay Pataki, the best infertility specialist in Thane, to explore personalized fertility solutions today!