congenital bilateral absence of the vas deferens (CBAVD)
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Genetics
- associated with defects in CFTR
- skipping of exon 9 in CTFR transcript: a high number of TG repeats & a low number of T repeats at the intron 8-exon 9 junction favor exon skipping
Clinical manifestations
- cause of sterility in men
- may represent an incomplete form of cystic fibrosis; the majority of men with cystic fibrosis lack the vas deferens