• PMID: 9675940
• Gene Name: CFTR
• Condition: congenital bilateral agenesis of the vas deferens, cystic fibrosis
• Association: The molecular genetics study showed one of the patients to be a heterozygotic carrier of G542X and no other mutations like the remaining patients.
• Mutation: G542X
• Population size: 3
• Population details: 3 azoospermic patients
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: congenital bilateral agenesis of the vas deferens, cystic fibrosis

[Congenital bilateral agenesis of the vas deferens associated with cystic fibrosis. A molecular genetic study]

Guzmán Martínez-Valls PL, Tomas Ros M, Glover López G, Ferrero Doria R, Morga Egea JP, Navas Pastor J, Rico Galiano JL, Sempere Gutiérrez A, Fontana Compiano LO.

OBJECTIVE: To analyze the association of congenital bilateral agenesis of the vas deferens and cystic fibrosis. METHODS: Three azoospermic patients with surgically confirmed congenital agenesis of the vas deferens in whom a molecular genetics study had been performed to discard the more common mutations of cystic fibrosis are described and the literature reviewed. RESULTS: All patients showed azoospermia. The molecular genetics study showed one of the patients to be a heterozygotic carrier of G542X and no other mutations like the remaining patients. CONCLUSIONS: 15% of patients with azoospermia have chromosomal anomalies. Recently, it has been reported that 50%-65% of patients with congenital bilateral agenesis of the vas deferens have mutations for the CFTR gene, with more than 400 reported. Patients with bilateral agenesis and their partners should be screened for cystic fibrosis prior to any in vitro fertilization techniques. FAU - Guzmán Martínez-Valls, P L AU - Guzmán Martínez-Valls PL AD - Servicio de Urología, Hospital General Universitario de Murcia, España. FAU - Tomas Ros, M AU - Tomas Ros M FAU - Glover López, G AU - Glover López G FAU - Ferrero Doria, R AU - Ferrero Doria R FAU - Morga Egea, J P AU - Morga Egea JP FAU - Navas Pastor, J AU - Navas Pastor J FAU - Rico Galiano, J L AU - Rico Galiano JL FAU - Sempere Gutiérrez, A AU - Sempere Gutiérrez A