congenital bilateral absence of vas deferens

Congenital Bilateral Absence of Vas Deferens (CBAVD): A Rare Obstructive Anomaly

Congenital bilateral absence of vas deferens, also known as CBAVD, is a rare genetic condition that affects males. It occurs when the tubes that carry sperm out of the testes, called vas deferens, fail to develop properly during fetal development.

Key Features:

• Infertility: The main clinical manifestation of CBAVD is infertility, accounting for 1-2% of male infertility cases [3][10].
• Absence of Vas Deferens: The condition is characterized by the absence or partial absence of the bilateral vas deferens, which prevents sperm from being transported through the epididymis and into the semen.
• Normal Testes Function: Despite the absence of vas deferens, the testes usually develop and function normally, producing sperm that cannot be ejaculated due to the obstruction [4][11].

Prevalence:

CBAVD is found in approximately 1% to 2% of males with infertility and accounts for 6-8% of cases of obstructive azoospermia [7][13]. It is also present in nearly 95% of men with cystic fibrosis (CF), an autosomal recessive disorder that has genetic links with CBAVD [13].

Diagnosis:

CBAVD is usually diagnosed in adult men, either during systematic assessment of cystic fibrosis or during evaluation of infertility. The condition may go unnoticed due to the absence of palpable vas deferens during routine physical examination [5].

Common Signs and Symptoms of Congenital Bilateral Absence of Vas Deferens

Congenital bilateral absence of vas deferens (CBAVD) is a rare condition that affects males, characterized by the improper development of the vas deferens. The following are common signs and symptoms associated with CBAVD:

• Male Infertility: The most significant symptom of CBAVD is male infertility, which occurs due to the absence or abnormality of the vas deferens [1][2].
• Azoospermia: Men with CBAVD often have azoospermia, meaning they have no sperm in their semen [7].
• Reproductive Organ Abnormalities: In some cases, CBAVD may be accompanied by congenital abnormalities in the urogenital system, such as undescended testes or epididymal cysts [10].

Important Notes

• CBAVD does not affect sex drive or sexual performance [5].
• This condition can occur alone or as a sign of cystic fibrosis, although it is not a direct indicator of the disease [5].
• CBAVD accounts for 1-2% of all cases of infertility and up to 5% of azoospermic men [7][8].

It's essential to consult a medical professional for an accurate diagnosis and treatment plan if you suspect you or someone else may have CBAVD.

References:

[1] Z Cai · 2022 · Cited by 18 [2] by CH Lin · 2020 · Cited by 11 [5] Oct 1, 2018 [7] [8] by Z Cai · 2022 · Cited by 18 [10]

Diagnostic Tests for Congenital Bilateral Absence of Vas Deferens

The diagnosis of congenital bilateral absence of vas deferens (CBAVD) relies on a combination of clinical examination, imaging methods, and semen-related examinations. Here are some diagnostic tests used to confirm the condition:

• Physical Examination: A physical examination can help identify the absence of the bilateral vas deferens, although this may be less common due to the vas deferens being less palpable during routine exams [13].
• Imaging Methods: Scrotal ultrasonography can distinguish the vas deferens from other cord-like structures in the spermatic cord and confirm its absence [4]. Transrectal ultrasound is also used to confirm the absence of the vas deferens in cases where it is not palpable.
• Semen Analysis: Semen analysis involves examining the semen volume, sperm count, and motility. A low ejaculate volume (<1.0 ml or 1.5 ml) and a semen analysis showing no sperm or severely low sperm count can indicate CBAVD [14].
• FSH Values and Diagnostic Testis Biopsy: Accurate differentiation of men into nonobstructive (testis failure) or obstructive azoospermia is possible based on FSH values and diagnostic testis biopsy results [6].

These diagnostic tests are used to confirm the diagnosis of CBAVD, which is essential for providing appropriate treatment and management options for affected individuals.

References:

[4] by L Li · 2016 · Cited by 12 — Scrotal ultrasonography can distinguish the vas deferens from the other cord-like structures in the spermatic cord, and the vas deferens has a ...

[6] Based on FSH values and a diagnostic testis biopsy, accurate differentiation of men into nonobstructive (testis failure) or obstructive azoospermia is possible.

[13] Vas deferens are less commonly palpated during routine a physical examination, hence the absence may go unnoticed. Also, injury to Vas deferens common in surgery. [1]

[14] Diagnostic Tests. According to the WHO laboratory manual for the examination and processing of human semen published in 2010, semen analysis involves the following steps: ... semen volume with no sperm or severely low sperm count could be secondary to ejaculatory duct obstruction or congenital bilateral absence of the vas deferens where the ...

**Treatment Options for Congenital Bilateral Absence

The differential diagnosis for congenital bilateral absence of vas deferens (CBAVD) includes other causes of azoospermia and obstruction of the seminal tract, such as:

• Injuries to the reproductive system
• Infections, such as epididymitis or orchitis
• Cysts or tumors in the testes or epididymis
• Excurrent ductal obstruction or testicular failure

These conditions can also present with azoospermia, which is the absence of sperm in the semen. Therefore, a thorough medical history and physical examination are necessary to rule out these potential causes.

According to [4], the differential diagnosis for CBAVD includes excurrent ductal obstruction or testicular failure, and it's essential to consider these conditions when evaluating patients with azoospermia.

Additionally, [6] states that if sperm are absent in a routine semen analysis, the differential diagnosis is excurrent ductal obstruction or testicular failure. The semen specimen should be further evaluated to determine the cause of azoospermia.

It's also worth noting that CBAVD can be associated with other congenital abnormalities, such as renal abnormalities (e.g., pelvic kidney) in patients without CFTR mutations [14].

In some cases, a testis biopsy may be necessary to confirm the diagnosis and rule out other potential causes of azoospermia, especially when there is doubt about the diagnosis [14].