Abstract

BACKGROUND
Congenital bilateral absence of vas deferens (CBAVD) is responsible for 2-6% of male infertility. It occurs in 95% of men with cystic fibrosis. This malformation is present in patients with a sterile obstructive azoospermia but without clinical evidence of cystic fibrosis. Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens.
PATIENTS AND METHODS
The study involved 20 male patients aged between 28-40 years, referred with suspected cystic fibrosis and in whom bilateral absence of vas deferens was confirmed by cyto-biochemical analyses and urogenital ultrasound. Molecular study of the CFTR gene was based on several techniques: DHPLC, DGGE and direct sequencing.
RESULTS
Thirteen patients had CFTR mutations: F508del, G542X, W1282X, E1104X, 711+1G → T, V201M (TG) m and IVS8-5T. These mutations were associated with polymorphisms: M470V and D1270N. Seven cases presented only polymorphisms.
CONCLUSION
The different mutations found in this study were associated with polymorphisms which decrease the severity of the disease and delay its onset. Thus, bilateral agenesis of the vas deferens is classed as a form of cystic fibrosis with only genital expression.

Links

Publisher Full Text

Authors

Boudaya M, Fredj SH, Haj RB, Khrouf M, Bouker A, Halouani L, Messaoud T

Institution

Laboratoire de Biochimie et de Biologie Moléculaire-Hôpital d'enfants de Tunis, Tunis, Tunisia.

Source

Annals of human biology 39:1 2012 Jan pg 76-9

MeSH

Adult
Africa, Northern
Cystic Fibrosis Transmembrane Conductance Regulator
Humans
Male
Male Urogenital Diseases
Mutation
Phenotype
Polymorphism, Genetic
Vas Deferens

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22148899