[Congenital bilateral agenesis of the vas deferens associated with cystic fibrosis. A molecular genetic study].
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.
Guzmán Martínez-Valls
P L
PL
Servicio de Urología, Hospital General Universitario de Murcia, España.
Tomas Ros
M
M
Glover López
G
G
Ferrero Doria
R
R
Morga Egea
J P
JP
Navas Pastor
J
J
Rico Galiano
J L
JL
Sempere Gutiérrez
A
A
Fontana Compiano
L O
LO
D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008297:Male; D008967:Molecular Biology; D009845:Oligospermia / Q000209:etiology / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities* / Q000196:embryology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator