Congenital Bilateral Absence of the Vas Deferens (CBAVD)
Definitions of Vas Deferens Aplasia
Absence of the vas deferens may occur unilateral or bilateral, it may be associated with absence of the seminal vesicles or with abnormalities of the urinary tract (Tüttelmann et al, 2008):
- Congenital unilateral absence of the vas deferens (CUAVD)
- Congenital bilateral absence of the vas deferens (CBAVD)
Unilateral absence of the vas deferens occurs in 0.6–1%. Bilateral absence of the vas deferens is in 6% the underlying cause of obstructive azoospermia.
Etiology of Vas Deferens Aplasia
Mutations of the CFTR:
Mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) lead to a bilateral absence of the seminal vesicles and/or vasa deferentes. The (pulmonary) manifestation of cystic fibrosis is not obligatory. Numerous different mutations have been described, which can be detected in 80% of men with CBAVD.
Association with unilateral renal agenesis:
Patients with CBAVD without CFTR mutations will have in up to 40% a unilateral renal agenesia. The mechanism for this disorder is unclear.
Signs and Symptoms
Unilateral absence of the vas deferens does not cause any complaints. Men with CBAVD suffer from azoospermia and infertility.
Treatment of CBAVD
Treatment is only necessary for reproduction, which is possible with intracytoplasmic sperm injection. The risk of cystic fibrosis (CF) is increased, genetic diagnosis and counseling can assess the risk individually.
Index: 1–9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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- Tüttelmann, F.; Gromoll, J. & Kliesch, S.
- [Genetics of male infertility].
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