CBAVD Definition and Meaning


According to abbreviationfinder, CBAVD stands for Congenital bilateral aplasia of the vas deferens. Congenital bilateral aplasia of the vas deferens is a congenital disease in which the male’s vas deferens are absent on both sides. The disease is often referred to by the abbreviation CBAVD and occurs either in isolation or in connection with mild cystic fibrosis. Congenital bilateral aplasia of the vas deferens is inherited in children in an autosomal recessive manner.

What is congenital bilateral aplasia of the vas deferens?

Congenital bilateral aplasia of the vas deferens is characterized by the fact that the affected person does not have any vas deferens on either side.

Congenital bilateral aplasia of the vas deferens is caused by a genetic mutation that occurs on the CFTR gene. In principle, congenital bilateral aplasia of the vas deferens represents a mild variant of cystic fibrosis. In contrast to the classic form of the disease, however, congenital bilateral aplasia of the vas deferens often only lacks the vas deferens.

The sperm cells form the testicles in sick patients as well as in healthy people. Due to the complete absence of the vas deferens, however, the semen in congenital bilateral aplasia of the vas deferens is hardly able to flow outwards. Instead, they only get into the epididymis.

In some cases of congenital bilateral aplasia of the vas deferens not only the vas deferens but also the seminal vesicles are absent. The urinary tract is partially affected by malformations. The prevalence of congenital bilateral aplasia of the vas deferens is about 0.6 to 1 percent. If people suffer from azoospermia, the cause is found in about three percent of those affected in a congenital bilateral aplasia of the vas deferens.

Causes

In most cases, congenital bilateral aplasia of the vas deferens is caused by certain genetic mutations in the CFTR gene. 75 to 90 percent of patients with congenital bilateral aplasia of the vas deferens have such gene mutations. In addition, there are other mutations that sometimes trigger congenital bilateral aplasia of the vas deferens. However, these occur much less frequently.

The exact mechanism of the pathogenesis of congenital bilateral aplasia of the vas deferens has not yet been sufficiently elucidated. It is not yet known why the mutation in the gene called CFTR causes the vas deferens to be missing on both sides. Researchers assume that the development of the vas deferens in fetuses is impaired in its course. Another cause of congenital bilateral aplasia of the vas deferens is considered to be blocked ducts, with the formation of viscous secretions.

Symptoms, Ailments & Signs

Congenital bilateral aplasia of the vas deferens is characterized by the fact that the affected person does not have any vas deferens on either side. In congenital bilateral aplasia of the vas deferens, the vas deferens are absent from birth. People with genital cystic fibrosis pass the disease on to their children.

In addition, the offspring suffer from cystic fibrosis with above-average frequency. It is typical of the congenital bilateral aplasia of the vas deferens that the semen is hardly transported outwards due to the missing vas deferens, but only into the epididymis.

Diagnosis & course of disease

The age at which the affected patients are diagnosed with congenital bilateral aplasia of the vas deferens varies from case to case. Sooner or later, however, most individuals with congenital bilateral aplasia of the vas deferens will develop evidence of obstruction of the vas deferens and seminal ducts. The general practitioner usually refers the patient to a urologist after a preliminary medical history and examination.

The discussion with the patient focuses primarily on family dispositions for the disease and the existing symptoms. As a result, the doctor narrows down the disease more and more. Conducting a spermiogram plays a crucial role in the clinical examination. Congenital bilateral aplasia of the vas deferens is primarily recognized by azoospermia, which indicates obstruction of the seminal ducts.

The spermiogram also shows a low pH value and a reduced concentration of fructose. The volume of the ejaculate is also usually extremely small. In principle, however, many of the people suffering from congenital bilateral aplasia of the vas deferens have a normal hormonal status. Congenital bilateral aplasia of the vas deferens is diagnosed with certainty using a genetic test. The mutations on the CFTR gene are detected.

Complications

The absence of both vas deferens in men is a congenital genetic defect. This is considered a mild form of cystic fibrosis. However, the typical symptoms of cystic fibrosis are absent in genital cystic fibrosis. The male genetic defect is usually only diagnosed by the general practitioner. An unfulfilled desire to have children is often the reason for going to the doctor.

Since congenital bilateral aplasia of the vas deferens (CBAVD) can be passed on to offspring via the genetic material, further visits to the doctor are necessary for this reason alone. There are often other symptoms that require treatment or correction. The urologist is usually the right contact person.

Using a spermiogram, the doctor treating you can determine whether azoospermia is present with minimal sperm volume. However, only a genetic test can reliably determine the presence of a congenital bilateral aplasia of the vas deferens. The effects of this genetic defect cannot yet be eliminated operationally. This would require a vas deferens transplant. In this respect, a referral to another doctor is pointless.

A laboratory for artificial insemination, on the other hand, can show the possibilities of artificial insemination. However, the transmissibility of the genetic defect must be taken into account. It can trigger cystic fibrosis in offspring. Genetic engineering is not yet ready to intervene here. Later it will presumably be possible to carry out gene repairs for such genetic defects.

When should you go to the doctor?

Congenital bilateral aplasia of the vas deferens is a serious genetic condition that, if left untreated, can cause serious mental health problems. Affected persons should consult a doctor immediately or present the affected child to a pediatrician. If the absence of one or both vas deferens is noticed, medical advice must also be sought. Other malformations in the area of ​​the urinary tract should also be examined by a doctor.

If mental problems occur as a result of infertility, a therapist must be consulted. Therapeutic treatment can support those affected in dealing with the disease and the unfulfilled desire to have children. The first point of contact for those affected is the general practitioner or a urologist. A specialist clinic must be visited for any artificial insemination. People who have genital cystic fibrosis pass the disease on to their children. An early examination of the child reveals a possible malformation and allows the parents to organize doctor’s appointments and other therapy measures at an early stage.

Treatment & Therapy

In principle, it is not possible to treat or heal the congenital bilateral aplasia of the vas deferens by surgical intervention. However, the affected men have the option of realizing a possible desire to have children by means of artificial insemination. The sperm is injected intracytoplasmically.

In principle, treatment of congenital bilateral aplasia of the vas deferens is therefore only necessary in cases in which there is a desire to have children. However, it should be borne in mind that the offspring of the patients are particularly predestined for cystic fibrosis.

Outlook & Forecast

The rare unilateral or the more common congenital bilateral aplasia of the vas deferens can occur as a consequence of genital cystic fibrosis or without an identifiable cause. The genetically caused absence or a cystic change in both vas deferens lead to infertility. The male sperm cells are formed in the testicles in a completely normal way. Without a vas deferens, however, they only reach the epididymis.

Today, sterility treatment can improve the prognosis in men affected by congenital bilateral aplasia of the vas deferens. An intracytoplasmic sperm injection is performed after a testicular biopsy has been performed. Alternatively, individual sperm can be taken from the ejaculate to determine the severity of the aplasia.

With complete degeneration of the vas deferens, the prognosis is poor for two reasons. On the one hand, men with a congenital bilateral aplasia of the vas deferens cannot be made fertile using conventional methods. It would be technically possible to remove a completely non-functional vas deferens and transplant a new one. However, this operation is performed very rarely.

On the other hand, the disease is hereditary. It can therefore also be transmitted to male offspring. In this respect, it is questionable whether children should be considered at all when congenital bilateral aplasia of the vas deferens occurs.

Prevention

According to current knowledge, congenital bilateral aplasia of the vas deferens is caused by genetic mutations, especially those in the CFTR gene. For this reason, the vas deferens are already missing in newborn babies. There are therefore no options for preventing congenital bilateral aplasia of the vas deferens. However, medical research is currently working on ways to treat various genetic diseases.

Aftercare

Since this disease is a congenital condition, it usually cannot be completely cured, so the affected person always needs medical examination and treatment to prevent further complications and further deterioration of the condition complaints comes. If the person concerned or the parents wish to have children, a genetic test and counseling can provide information so that the disease cannot recur in the descendants.

An early diagnosis usually always has a positive effect on the further course of the disease. In most cases, the symptoms can be resolved with the help of surgical interventions. The person concerned should definitely rest after such an operation and not carry out any physical or stressful activities.

Artificial insemination can be used to make a child come true. However, a genetic test must be carried out before the desire to have children is pursued. As a rule, no further follow-up measures are necessary. The disease usually does not reduce or limit the life expectancy of the person affected.

You can do that yourself

Congenital bilateral aplasia of the vas deferens does not usually cause any physical symptoms. The therapy and any self-help measures focus on accepting the infertility and minimizing the effects on the patient ‘s psyche. This is achieved through therapy talks, self-help groups and counseling sessions in a specialist clinic.

Men who are infertile often come into conflict with their spouses as well. Marriage counseling can help to resolve the conflicts and show the people concerned options for fulfilling their desire to have children. A successful adoption or comparable alternatives help enormously in alleviating the psychological problems that affect not only the men but also their partners.

If the desire to have children remains unfulfilled despite all measures, those affected are usually depressed and frustrated. Any mental problems should definitely be discussed and worked through with a therapist. Therapeutic treatment should also be used by those affected who suffer from inferiority complexes and other psychological problems as a result of the malformation. Which measures and steps make sense in detail is best discussed with the psychologist or the family doctor responsible.

Congenital bilateral aplasia of the vas deferens

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