Congenital Bilateral Absence Of Vas Deferens: Causes & Symptoms

Absence of vas deferens is usually since birth. This genetic deformity pertains only in males. Vas deferens is two tubes that are connected with the testes. They carry sperm produced by testes during the time of ejaculation. Some male children are born without vas deferens. Males born without vas deferens are infertile as sperm cannot be delivered naturally out of the testes.

Males suffering from genetic condition called cystic fibrosis usually suffer from absence of vas deferens since birth. Thus the major risk factor for absent vasa is hereditary cystic fibrosis. The underlying cause of this genetic condition is mutation in CFTR gene.

Mutation in this gene prevents formation of vas deference during the developmental stage of fetus, however, the testes is fully developed with its function intact. Thus despite absence of vas deferens it is possible for an infertile person to reproduce as sperm can be retrieved with the help of assisted reproductive techniques.

What Causes Congenital Bilateral Absence Of Vas Deferens?

Congenital bilateral absence of vas deferens is a deformity of male reproductive organ. In a normal male there are two vas deferens tubes each attached to the one testis. Sperm produced in the testes makes its way through the tubes during the time of ejaculation.

In congenital bilateral absence of vas deferens the tubes are missing since birth. This is one of the reasons for infertility in males.

The disorder is most common in males suffering from cystic fibrosis. Cystic fibrosis is another genetic disease involving lungs and gastrointestinal system. Almost majority of males with absence of vas deferens are known cases of cystic fibrosis. Thus cystic fibrosis is the major hereditary component for development of absence of vas deferens since birth.

The mutation occurs in CTFR gene. This gene is involved in maintaining water movement and electrolytes. Both are needed for production and thickness of mucus in respiratory, digestive and reproductive tract. However, in mutation of CTFR gene the consistency of water and mucus gets obliterated giving rise of deterioration in development of vas during the fetal stage.

Absence of mucus is mostly associated with other genetic condition called cystic fibrosis. Thus males suffering from absence of vas deferens also have an underlying cystic fibrosis problem. The cause of congenital bilateral absence of vas deferens is not known if there is no underlying cystic fibrosis.

Symptoms Of Absence Of Vas Deferens

Patients with bilateral absence of vas deferens are infertile. In some males the symptoms can be independent if there is no association with cystic fibrosis.

Associated cystic fibrosis:

  • Infertility
  • Recurrent sinusitis
  • Chronic problems related with respiratory tract.
  • Chronic health problems of gastrointestinal tract.
  • Less production of pancreatic enzymes which help in digestion of food.

Symptoms of congenital bilateral absence of vas deferens without having cystic fibrosis;

These males usually complain of symptoms related to urinary tract.

  • Infertility
  • Hypertension
  • Discharge of excess protein in urine.
  • Passage of blood in urine.

Treatment For Congenital Absence Of Vas Deferens

Congenital bilateral absence of vas deferens cannot be cured. Since this disorder can cause male infertility, the main aim of treatment is to resort to methods that will help to the male to reproduce as the production of sperm in testes is not obliterated. Simultaneously cystic fibrosis is also treated if it is present.

There are several types of sperm retrieving methods which help in assisted reproduction techniques through which the couple can have a child. In some patients where cystic fibrosis is not the cause, treatment may be necessary to cure urinary tract abnormalities.