[Bilateral vas deferens agenesis and inguinal hernia in a child. A rare, early presentation of cystic fibrosis].
Epididymal and ductal anomalies can be discovered incidentally during inguinal herniorraphy in children. The congenital bilateral absence of vas deferens is frequently associated with cystic fibrosis.


METHODS
This agenesia of vas deferens was detected in a 5-month-old boy who underwent an inguinal herniorraphy. Although the child did not present any symptoms, he actually presented cystic fibrosis: the sudoral test showed high levels of chloride (95 mmol/L) and an isolated homozygous delta F 508 deletion on the gene CFTR was evidenced on genetic investigations.


CONCLUSIONS
The congenital bilateral absence of vas deferens is the most frequent anomaly of the male genital tract discovered in adults investigated for azoospermia. Relations with cystic fibrosis are well established but congenital bilateral absence of vas deferens discovered during infancy is an exceptional situation that requires genetic investigations to show evidence of a likely underlying cystic fibrosis.
Merrot
T
T
Unité de chirurgie viscérale, CHU Nord, chemin des Bourrelys, 13015 Marseille, France. Tmerrot@ap-hm.fr
Delarue
A
A
Chaumoitre
K
K
Panuel
M
M
Sigaudy
S
S
Chazalette
J P
JP
Alessandrini
P
P
D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D006552:Hernia, Inguinal / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009845:Oligospermia / Q000209:etiology; D014649:Vas Deferens / Q000002:abnormalities*