[Andrological description of a population of azoospermic men with agenesis of the vas deferens].
BACKGROUND
In the 1990's, congenital agenesis of the vas deferens was identified as a minor form of cystic fibrosis in relation to the frequency of mutations of the CFTR gene associated. It is responsible for masculine infertility by obstructive azoospermia; which is not accessible to a surgical treatment. However, surgical sperm retrieval and injection de spermatozoïde en intracytopasmique (ICSI) allow fatherhood for these patients.


METHODS
A retrospective analysis of 104 consecutive patients from 1996 to 2006. A comprehensive clinical, spermiologic, hormonal, imaging and genetic workup was carried on. The data from the surgical extractions and the attempts of ICSI were collected.


RESULTS
Seventy-five percent of the patients had a mutation of the CFTR gene; ultrasound imaging revealed a renal or a seminal vesicle abnormality in 20% and 84.5% of the patients, respectively. The association of a semen volume less than 2 mL with a pH less than 7.2, a fructose less than 2 and mean sudoral chlore greater than 60 mmol/L enabled an immediate identification of 30% of patients carrier of the mutation and without renal abnormality. The sperm extraction rate was 98%.


CONCLUSIONS
A search for the CFTR gene mutations and an ultrasound imaging of the genito-urinary system are essential to the workup of these patients. The association of a semen volume less than 2 mL, a semen pH less than 7.2 and a fructose less than 2 must point towards a minor form of cystic fibrosis and prompt the workup of genetic abnormalities and sudoral chlore testing. The results of the sperm extraction combined to the technical advances of IVF/ICSI allow excellent pregnancy rates of 66% for the companions of these patients.
Service d'andrologie, hôpital Calmette, CHRU de Lille, 59037 Lille, France.
S
S
Bouyé
Service d'andrologie, hôpital Calmette, CHRU de Lille, 59037 Lille, France. Electronic address: francois.marcelli@chru-lille.fr.
F
F
Marcelli
Service d'andrologie, hôpital Calmette, CHRU de Lille, 59037 Lille, France.
T
T
Ghoneim
Service d'uro-radiologie, hôpital Claude-Huriez, CHRU de Lille, 59000 Lille, France.
L
L
Lemaitre
Service d'andrologie, hôpital Calmette, CHRU de Lille, 59037 Lille, France; Service de gynécologie et de biologie de la reproduction, hôpital Jeanne-de-Flandre, CHRU de Lille, Lille, France.
G
G
Robin
Service de spermiologie, institut de biologie de la reproduction, hôpital Calmette, CHRU de Lille, Lille, France.
V
V
Mitchell
Service de toxicologie et génopathies, centre de biologie pathologie, institut de biochimie et biologie moléculaire, CHRU de Lille, Lille, France.
G
G
Lalau
Service d'andrologie, hôpital Calmette, CHRU de Lille, 59037 Lille, France.
J-M
JM
Rigot
D000328:Adult; D033441:Andrology; D053713:Azoospermia / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D014649:Vas Deferens / Q000002:abnormalities*; D055815:Young Adult
Agenesis of the vas deferens; Agénésie des déférents; Azoospermia; Azoospermie; CFTR gene; Gène CFTR; ICSI; Prélèvement chirurgical de sperme; Testicular sperm extraction