Congenital absence of the vas deferens

A congenital condition affecting the male reproductive system

Congenital absence of the vas deferens (CAVD) is a rare congenital disorder that affects the male reproductive system. It is characterized by the absence of the vas deferens, the duct that conveys sperm from the epididymis to the ejaculatory duct and urethra. This condition is often associated with cystic fibrosis and can lead to infertility in affected males.

Pathophysiology

The vas deferens is a crucial component of the male reproductive tract, responsible for the transport of sperm from the testes to the urethra. In individuals with congenital absence of the vas deferens, this duct is either partially or completely absent. This absence can occur unilaterally or bilaterally, with bilateral absence being more common.

CAVD is often linked to mutations in the CFTR gene, which is also responsible for cystic fibrosis. These mutations can disrupt the normal development of the vas deferens during fetal development, leading to its absence. As a result, sperm cannot be transported from the testes, causing azoospermia and infertility.

Clinical Presentation

Men with congenital absence of the vas deferens typically present with infertility as the primary symptom. They may have normal testosterone levels and secondary sexual characteristics, but a semen analysis will reveal azoospermia, meaning no sperm are present in the ejaculate.

In some cases, CAVD may be discovered incidentally during evaluations for other conditions, such as cystic fibrosis. It is important to note that while CAVD is often associated with cystic fibrosis, not all individuals with CAVD have the full spectrum of cystic fibrosis symptoms.

Diagnosis

Diagnosis of congenital absence of the vas deferens is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. A thorough medical history and physical examination are essential, followed by a semen analysis to confirm azoospermia.

Genetic testing for mutations in the CFTR gene can help confirm the diagnosis and assess the risk of cystic fibrosis. Imaging studies, such as a scrotal ultrasound or MRI, can be used to visualize the absence of the vas deferens and assess the anatomy of the reproductive tract.

Management

Management of congenital absence of the vas deferens focuses on addressing infertility. Assisted reproductive technologies, such as in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI), can be used to achieve pregnancy. Sperm can be retrieved directly from the testes or epididymis through surgical procedures such as testicular sperm extraction (TESE) or microsurgical epididymal sperm aspiration (MESA).

Genetic counseling is recommended for affected individuals and their partners, especially if there is a risk of cystic fibrosis or other genetic conditions.

Related pages

• Cystic fibrosis
• Infertility
• Azoospermia
• Vas deferens
• CFTR gene