Male Infertility Due to Genetic Disorders
Male infertility can result from many different causes. Conditions such as varicocele, azoospermia, and genetic disorders can be significant obstacles to fatherhood. Studies suggest that approximately 15% of male infertility cases may have a genetic origin. Let’s take a closer look at the genetic causes and how they can be treated.
Is Infertility Genetic?
We are often asked the question, “Is infertility genetic?” While genetics can play a role, it is not the only cause of infertility. Male infertility may result from a variety of factors. Genetic abnormalities are just one of these possible causes.
Genetic male infertility can arise from mutations in genes responsible for sperm production, chromosomal abnormalities, or congenital structural anomalies. Inherited conditions like cystic fibrosis or Kallmann syndrome can also increase the risk of infertility in men.
The Most Common Genetic Causes of Male Infertility
- Y Chromosome Microdeletions
Genes located in the AZF region on the long arm of the Y chromosome are essential for healthy sperm production. Microdeletions (loss of genetic material) in this region are often associated with azoospermia (no sperm in the ejaculate) or severe oligospermia (very low sperm count). - Klinefelter Syndrome
While a typical male has one X and one Y chromosome, individuals with Klinefelter syndrome have an extra X chromosome (XXY). This condition significantly impairs sperm production in the testes. Common symptoms include low testosterone levels, reduced testicular volume, and azoospermia. - CFTR Gene Mutations (Cystic Fibrosis Carriers)
Mutations in the CFTR gene are usually linked to cystic fibrosis. However, in some men, these mutations cause a condition called congenital bilateral absence of the vas deferens (CBAVD), in which sperm cannot be transported out of the body despite normal sperm production.
Symptoms of Genetic Male Infertility
Genetic male infertility often does not cause noticeable symptoms. Most couples discover the issue after seeking medical help due to difficulty conceiving. However, certain physical and hormonal features may indicate a genetic cause. These include:
- Small testes or history of undescended testicles
- Low libido
- Decreased muscle mass
- Sparse facial and body hair
Men with Klinefelter syndrome may also present with tall stature, gynecomastia (enlarged breast tissue), high-pitched voice, and small testes. If any of these symptoms are present, a detailed urological evaluation and genetic testing are recommended.
Treatment Options for Genetic Infertility
Treatment for genetically induced infertility is personalized based on the underlying cause. Options may include:
- ICSI (Intracytoplasmic Sperm Injection):
In this IVF technique, a single sperm is directly injected into the egg. It is commonly used when sperm count is low or when the sperm cannot reach the egg naturally due to missing ducts. - PGT (Preimplantation Genetic Testing):
If there is a risk of passing on a genetic condition, embryos can be screened for genetic abnormalities before being transferred to the uterus. - Hormone Therapy:
In some cases, correcting hormonal imbalances can help improve sperm production. - TESA/PESA:
If no sperm is found in the semen, sperm cells can be surgically retrieved directly from the testicles.
Sperm Donation:
If no viable sperm can be obtained despite treatment, sperm donation treatment may be used to achieve pregnancy.
