Causes of Congenital Bilateral Absence of Vas Deferens & Its Symptoms, Treatment

Many children suffer from the absence of vas deferens right from birth. Occurring only in males, this is a genetic deformity wherein the child is born without vas deferens and is therefore infertile as the sperms cannot be naturally delivered outside the testes. Vas deferens comprises the two tubes which are connected to the testes. It is instrumental in carrying testes-produced sperm during ejaculation. Know the causes and the symptoms of congenital bilateral absence of vas deferens along with the treatment options.

Being a tube-like long structure, the vas deferens connects the site of sperm storage known as epididymis to the tube which expels sperms called the urethra. When a man ejaculates, the sperm flows out from the testicles via the vas deferens and goes into urethra, which then allows the sperm to go out of the body via the penis. However, when a male is suffering from congenital bilateral absence of vas deferens, the sperms get stuck in the testicles and are unable to reach the urethra, thus causing infertility.

Causes of Congenital Bilateral Absence of Vas Deferens

Causes of Congenital Bilateral Absence of Vas Deferens

The absence of vas deferens is a deformity in the male reproductive organ which occurs since birth and causes infertility in males. Find some of the causes of congenital bilateral absence of vas deferens.

One of the major causes of congenital bilateral absence of vas deferens is the presence of a genetic condition called cystic fibrosis. This is a condition which involves the gastrointestinal system and the lungs. Almost 98 percent men suffering from this genetic condition are also known cases of absence of vas deferens.

Some genetic mutations in CFTR gene, too can cause congenital bilateral absence of vas deferens. Mutation is normally seen in a specific gene, which is useful in maintaining a proper balance between the electrolytes and also ensures proper water movement. It is essential for adequate mucus thickness and production in the digestive, respiratory and reproductive tract. However, due to mutation in this gene, it completely destroys the water and mucus consistency. This in turn results in deterioration in the development of vas deferens even when the child is still a fetus in his mother’s womb.

However, the commonest known underlying cause of congenital bilateral absence of vas deferens is cystic fibrosis while other possible causes are still being studied.

Symptoms of Congenital Bilateral Absence of Vas Deferens

The symptoms of congenital bilateral absence of vas deferens can be divided into two groups: one where the absence of vas deferens is associated with cystic fibrosis and the other without it.

The Symptoms Of Congenital Bilateral Absence Of Vas Deferens When Associated With Cystic Fibrosis Are:

  • Recurrent sinusitis
  • Infertility
  • Health issues related to the gastrointestinal tract
  • Complications in the respiratory tract
  • Reduced production of pancreatic enzymes which are quite essential for digestion.

Symptoms Of Congenital Bilateral Absence Of Vas Deferens When Not Associated With Cystic Fibrosis Include:

  • Hypertension
  • Infertility
  • Passage of blood along with urination
  • Excess protein also gets discharged with urination

Diagnosis of Congenital Bilateral Absence of Vas Deferens

The diagnosis of congenital bilateral absence of vas deferens can be made with

  • Evaluation of medical history and family history including that of cystic fibrosis
  • Assessment of symptoms
  • Physical examination
  • Examination of scrotum
  • Carrying out an ultrasound to get the image of the scrotum and trans-rectal region
  • Checking for the specific CFTR gene mutation via genetic testing of fetal cells
  • Ruling out all other causes of infertility by performing required tests

Treatment of Congenital Bilateral Absence of Vas Deferens

Although, treatment of congenital bilateral absence of vas deferens is not directly available, other possible work arounds do help. As this condition causes male fertility, doctors feel the need to find ways to treat it. This is done by resorting to methods which will help the man to reproduce. As sperm production in testes is not affected in congenital bilateral absence of vas deferens, fertility can be maintained by assisted ways of reproduction. Cystic fibrosis, if present, can also be treated. This is why the treatment of congenital bilateral absence of vas deferens is possible today.

With the advancement in modern day medicine, there are several methods which help retrieve sperm and aid in reproductive techniques to enable a man to have a family. In cases where congenital bilateral absence of vas deferens is not caused due to cystic fibrosis, treatment of abnormalities in the urinary tract is also required to maintain fertility.

Conclusion

Although the symptoms of congenital bilateral absence of vas deferens are troublesome, the condition can help to retain fertility. Treatment of congenital bilateral absence of vas deferens includes the use of various methods focusing on maintaining fertility. Your infertility which is undoubtedly your biggest concern can be effectively treated allowing you to have a happy family. However, it is imperative for you to meet your doctor and discuss the problems at the earliest.

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