Vas deferens, congenital bilateral aplasia of

Congenital Bilateral Absence of the Vas Deferens
Synonyms	CBAVD
Pronounce	N/A
Specialty	N/A
Symptoms	Infertility
Complications
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, often associated with Cystic Fibrosis
Risks
Diagnosis	Genetic testing, semen analysis
Differential diagnosis	N/A
Prevention	N/A
Treatment	Assisted reproductive technologies
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a condition characterized by the absence of both vas deferens from birth. The vas deferens are ducts that transport sperm from the epididymis to the ejaculatory duct in the male reproductive system. The absence of these ducts results in infertility due to the inability of sperm to be transported from the testes to the ejaculate.

Etiology

CBAVD is often associated with mutations in the CFTR gene, which is also implicated in Cystic Fibrosis. Approximately 80% of men with CBAVD have mutations in the CFTR gene. This condition can be considered a mild form of cystic fibrosis, where the primary manifestation is reproductive rather than pulmonary.

Pathophysiology

In individuals with CBAVD, the vas deferens fail to develop properly during embryogenesis. This is due to genetic mutations that affect the development of the Wolffian duct, from which the vas deferens is derived. The absence of the vas deferens leads to azoospermia, a condition where no sperm is present in the ejaculate.

Diagnosis

Diagnosis of CBAVD is typically made during the evaluation of male infertility. A semen analysis will reveal azoospermia with normal testicular function. Genetic testing for CFTR mutations is often performed to confirm the diagnosis and assess the risk of cystic fibrosis in offspring.

Management

While there is no cure for CBAVD, assisted reproductive technologies (ART) can help affected individuals achieve biological parenthood. Techniques such as testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection (ICSI) are commonly used.

Prognosis

The prognosis for individuals with CBAVD is generally good in terms of overall health, as the condition primarily affects fertility. With appropriate ART, many individuals can father biological children.

Also see

• Cystic Fibrosis
• Azoospermia
• Infertility
• Assisted Reproductive Technology

This 'Reproductive system diseases' related article is a stub.