What is it?
CFTR 50 MUT
The congenital bilateral absence of the vas deferens (the tubes that carry sperm out of the testicles) occurs in males when the vas deferens do not develop correctly. Although the testicles usually develop and function normally, in these patients, sperm cannot be transported through the vas deferens to become part of the semen. Consequently, men with this condition are infertile.
More than half of the men with this disease have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When congenital bilateral absence of the vas deferens occurs in conjunction with CFTR mutations and no other features of cystic fibrosis, the condition is considered a form of atypical cystic fibrosis.
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