Genetic disorders that cause male infertility

Male infertility is a leading cause of infertility in couples. Genetic disorders cause 2%-8% of male infertility cases, according to a study published by the National Institutes of Health.

Out of the many reasons for male infertility, diagnosing genetic abnormalities is complex due to the wide range of genes involved in producing and transporting healthy sperm. Active research is on identifying additional genetic anomalies contributing to male infertility.

Understanding Genetic disorders that cause male infertility

If the initial examinations show anomalies in the man’s semen, such as deficiencies in sperm count, presence or quality, genetic screening may be performed to determine a specific genetic cause for male infertility. The results will help us at ZIVA Clinics to solve the issue through treatment, such as IVF with ICSI. Sometimes the couple may benefit from genetic counselling.

If male infertility is due to genetic issues, it can also cause a child to inherit severe medical and developmental complications. To rule out such factors, preimplantation genetic testing will be performed. These tests determine any genetic problems that may cause implantation failure, miscarriage or birth defects.

Genetic testing is done when the man :

  • Has a meagre sperm count
  • No sperm in semen 
  • Physical defects such as small testicles
  • Multiple miscarriages.

Types of genetic disorders causing male infertility 

The primary genetic diseases that cause male infertility are:-

  • Cystic fibrosis gene mutation
  • Klinefelter syndrome
  • Y chromosome microdeletions of genes
  • Noonan syndrome
  • Chromosomal translocations.

Spermatogenesis: A male genetic disorder where they lose the ability to produce healthy sperm cells.

Azoospermia: A male suffering from this condition suffers from blockages to even produce sperm cells.

Oligospermia: A male genetic disorder which causes very poor or low-quality sperm.

Malformed sperm also cannot survive long enough for fertilization to occur. Men with azoospermia or severe oligospermia can cause genetic abnormality in their offspring more than men who are infertile for other reasons.

Kleinfelter syndrome: Men with Kleinfelter syndrome are infertile, as they have an additional X chromosome (47, XXY). Only 10% of the time, it is diagnosed before birth. It is primarily known in adolescence or adulthood. Men with this condition have:-

  • Small testicles and the testicles cannot produce sex hormones. 
  • Enlarged breasts, called gynecomastia
  • Less facial and pubic hair
  • Small penis
  • Low sex drive.

About 1 in 1,000 boys are affected by this condition, and it causes approximately 3% of male infertility cases. They also suffer from oligospermia or azoospermia. This genetic disorder has long-standing issues such as osteoporosis, language and speech problems, learning disabilities and behavioural issues.

Cystic fibrosis gene mutation: Cystic fibrosis is an inherited disorder that can be life-threatening, affecting the lungs and the digestive tract. A specific genetic mutation causes this disease that only affects male fertility. Due to the cystic fibrosis gene called CFTR (cystic fibrosis transmembrane conductance regulator) vas deferens, the connector tube which carries the sperm to the urethra for ejaculation is absent. Men with CFTR also have blocked ejaculatory ducts and blocked epididymis. Genetic testing for men with low sperm counts can determine the presence of CFTR mutation.

Couples whose male partner suffers from this condition should undergo genetic counselling to determine the risks of having a child with cystic fibrosis. There is a risk that the child also might have cystic fibrosis.

Y chromosome microdeletions: Males with this condition have issues with sperm production due to missing areas of the Y chromosome. According to “The American Society for Reproductive Medicine”, microdeletions account for 16% of infertility cases in men. These men are characterized by azoospermia or severe oligospermia. Male offspring of such a father will inherit the deletion and may be infertile. Couples should undergo genetic counselling.

Chromosomal translocation: This means an unusual chromosome rearrangement and men with these translocations experience degrees of low sperm count and no sperm in semen. 2.1% of male infertility cases are due to this condition. This abnormality does not affect semen volume, but the semen has lower than average sperm concentration. 

Noonan syndrome: Noonan syndrome results from mutations occurring in more than eight genes. The child will be born with various physical effects, such as several abnormalities in the facial structure, head, sternum, elbows, spine, and heart defects. If not surgically corrected, mature sperm may not develop properly, resulting in infertility for some men. 

We at ZIVA clinics first test the semen, to check for abnormalities. Depending on the fertility specialist’s evaluation, they might proceed with genetic testing. The best options for genetic disorders are in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). Sometimes if the man’s sperm can’t help him father a child, sperm donation is the best option.

We at ZIVA Fertility clinics have highly experienced fertility specialists who have experience dealing with various types of infertility-related genetic male disorders. We also offer genetic counselling to the parents and give them a transparent picture of their offspring. We also give alternate suggestions like Assisted Reproductive Technologies in which donor sperm can be used. Please visit our website, to know more or contact us at +91-9100002737, +91-9392834024,