• PMID: 9412228
• Gene Name: CFTR
• Condition: Agenesis of vas deferens
• Association: Case report: Four case reports of bilateral agenesia who were seen for infertility
• Population size: 4
• Population details: 4 bilateral agenesia
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Agenesis of vas deferens

[Agenesis of vas deferens and cystic fibrosis]

Calleja Escudero J, Telleria Orriols JJ, Estébanez Zarranz J, Alonso Ramos MJ, Amón Sesmero JH, Martínez-Sagarra JM, Blanco Quirós A.

Congenital bilateral absence of vasa deferens appears in 6% of obstructive azoospermia, and 60-70% of these patients also have cystic fibrosis mutations. Unilateral aplasia or agenesia of vasa deferens occurs in less than 1% male individuals and some studies have found that up to 43% cases show mutations in the cystic fibrosis gen. We contribute four case reports of bilateral agenesia who were seen for infertility, all of which showed presence of mutation. In none of the two cases of unilateral agenesia, who consulted for vasectomy, a mutation in the cystic fibrosis gen was found. Patients with bilateral agenesia and their partners should be screened for cystic fibrosis, prior to spermatic microaspiration and assisted fecundation. FAU - Calleja Escudero, J AU - Calleja Escudero J AD - Servicio de Urología, Hospital Del Río Hortega, Valladolid. FAU - Telleria Orriols, J J AU - Telleria Orriols JJ FAU - Estébanez Zarranz, J AU - Estébanez Zarranz J FAU - Alonso Ramos, M J AU - Alonso Ramos MJ FAU - Amón Sesmero, J H AU - Amón Sesmero JH FAU - Martínez-Sagarra, J M AU - Martínez-Sagarra JM