X-linked congenital bilateral absence of vas deferens

X-linked Congenital Bilateral Absence of Vas Deferens (CBAVD)

X-linked CBAVD is a rare genetic disorder that affects males, characterized by the congenital absence or underdevelopment of the vas deferens. This condition leads to male infertility due to the inability of sperm to be transported from the testes.

Causes and Genetics

The X-linked form of CBAVD is caused by mutations in the ADGRG2 gene located on chromosome Xp22.13 [9]. This genetic mutation affects the development of the vas deferens, leading to their absence or underdevelopment.

Prevalence and Associations

X-linked CBAVD is a rare condition, but it is often associated with other conditions such as cystic fibrosis, which affects about 98% of males with this disorder [3]. It also accounts for 6-8% of cases of obstructive azoospermia [3].

Clinical Manifestations

The main clinical manifestation of X-linked CBAVD is male infertility due to the absence or underdevelopment of the vas deferens. This condition can be diagnosed through genetic testing and imaging studies.

References

• [9] X-linked congenital bilateral absence of vas deferens is caused by a mutation in the ADGRG2 gene located on chromosome Xp22.13.
• [3] Congenital bilateral absence of vas deferens (CBAVD) affects about 1/1,000 males and is found in 98% of males with cystic fibrosis.

Note:

Infertility: The primary symptom of X-linked congenital bilateral absence of vas deferens (CBAVD) is infertility in males, accounting for 1-2% of male infertility cases [13]. This condition affects the ability to produce sperm due to the absence or malfunctioning of the vas deferens.

• Absence of palpable vas deferens: In some cases, the absence of the vas deferens may go unnoticed during a physical examination, as they are less commonly palpated [12].
• Obstructive azoospermia: CBAVD is often associated with obstructive azoospermia, where there is a complete or partial blockage in the reproductive tract, resulting in the absence of sperm in the semen [5, 14].

Other possible symptoms:

• Congenital abnormalities in the urogenital system: In some cases, CBAVD may be accompanied by congenital abnormalities in the urogenital system [13].
• Incomplete or partial defect of the Wolffian duct derivatives: The condition can involve a complete or partial defect of the Wolffian duct derivatives, which can lead to various reproductive and urinary tract issues [14].

Important note: In some instances, CBAVD may not be associated with any other symptoms or abnormalities, making it challenging to diagnose.

Diagnostic Tests for X-linked Congenital Bilateral Absence of Vas Deferens

The diagnosis of X-linked congenital bilateral absence of vas deferens (CBAVD) relies mainly on the identification of the absence of the bilateral vas deferens through physical examination and imaging methods, followed by further evaluation to confirm the condition.

• Physical Examination: A thorough physical examination is essential to identify any abnormalities in the scrotal area, including the presence or absence of the vas deferens.
• Imaging Methods: Scrotal and transrectal ultrasound are considered the gold standard for diagnosis, as they allow for the evaluation of the absence of the seminal vesicles and the vas deferens. These imaging methods can also help identify any other associated abnormalities.
• FSH Values and Diagnostic Testis Biopsy: Accurate differentiation between nonobstructive (testis failure) or obstructive azoospermia is possible based on FSH values and a diagnostic testis biopsy.

Genetic Testing

In addition to the above-mentioned diagnostic tests, genetic testing may also be recommended for individuals suspected of having CBAVD. Truncating mutations in the adhesion G protein-coupled receptor G2 gene (ADGRG2) have been identified as a cause of X-linked congenital bilateral absence of vas deferens.

Clinical Features and Genetic Tests

The clinical features of CBAVD include:

• Absence or hypoplasia of the vas deferens
• Absence or hypoplasia of the seminal vesicles
• Normal testicular development

Genetic tests available for CBAVD include:

• ADGRG2 gene testing to identify truncating mutations
• Other genetic tests may also be recommended based on individual circumstances.

References

1. The gold standard for diagnosis is scrotal and transrectal ultrasound, which also allows evaluation of the absence of the seminal vesicles [1].
2. The diagnosis of CBAVD relies mainly on identification of the absence of the bilateral vas deferens through physical examination and imaging methods, and then ... [7][2].
3. Truncating mutations in the adhesion G protein-coupled receptor G2 gene ADGRG2 cause an X-linked congenital bilateral absence of vas deferens [5].
4. Accurate differentiation between nonobstructive (testis failure) or obstructive azoospermia is possible based on FSH values and a diagnostic testis biopsy [6][9].

Based on the provided context, it appears that there is limited information available on the drug treatment for X-linked congenital bilateral absence of vas deferens (CBAVD). However, I can provide some general information on the topic.

Current Treatment Options

Unfortunately, there are no specific drugs or treatments mentioned in the search results that target X-linked CBAVD directly. The condition is often associated with cystic fibrosis and other genetic disorders, which may require different treatment approaches.

General Information on Congenital Bilateral Absence of Vas Deferens (CBAVD)

• CBAVD is a rare genetic condition affecting the vas deferens, leading to infertility in males.
• It is often associated with cystic fibrosis and other genetic disorders.
• Treatment options for CBAVD are limited, and fertility preservation may be considered through assisted reproductive technologies.

Drug-Related Information

While there is no specific information on drug treatment for X-linked CBAVD, the search results mention various drugs related to vas deferens and male infertility. These include:

• Paclitaxel (5)
• Carboplatin (6)
• Pembrolizumab (7)
• Tyrosine kinase inhibitors (7)

However, it is essential to note that these drugs are not specifically mentioned as treatments for X-linked CBAVD.

Conclusion

In conclusion, while there is limited information available on the drug treatment for X-linked congenital bilateral absence of vas deferens, I have provided some general information on the condition and related topics. If you would like more specific information or clarification on any aspect, please let me know.

References:

• [4] Most patients with CAVD can be sub-categorized into three different types: (i) congenital bilateral absence of the vas deferens (CBAVD), (ii) congenital unilateral absence of the vas deferens (CUAVD) or, (iii) congenital bilateral partial aplasia of the vas deferens (CPAVD).
• [5] Drugs for Vas Deferens and Male Infertility
• [7] Drug use disorders are associated with significant costs to society due to lost productivity, premature mortality, increased health care expenditure, and costs related to criminal justice, social welfare, and other social consequences.

The differential diagnosis for X-linked congenital bilateral absence of vas deferens (CBAVD) involves considering other causes of azoospermia and obstruction of the seminal tract.

• Other causes of azoospermia include:
  • Excurrent ductal obstruction: This can be caused by various factors such as injuries, infections, cysts, or congenital abnormalities [9].
  • Testicular failure: This can be due to various conditions affecting the testes, such as cryptorchidism, testicular torsion, or testicular cancer [5].
• Obstruction of the seminal tract can also be caused by:
  • Congenital anomalies of the Wolffian duct derivatives: These include abnormalities in the development of the vas deferens, epididymis, and seminal vesicles [15].

It's worth noting that CBAVD is often