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congenital bilateral absence of the vas deferens
Friday 11 May 2007
Etiology
CFTR mutations
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations associated with cystic fibrosis have been reported in patients with congenital bilateral absence of vas deferens (CBAVD).
- Genetic counselling may be recommended for any couple attempting assisted reproduction technology when the man has CBAVD.
Associations
unilateral renal agenesis
cystic fibrosis
References
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens. Sakamoto H, Yajima T, Suzuki K, Ogawa Y. Int J Urol. 2008 Mar;15(3):270-1. PMID: 18304229
McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod. 2001 Feb;16(2):282-8. PMID: 11157821
