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. This agenesia of vas deferens was detected in a 5-month-old boy who underwent an inguinal herniorra...

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Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2001-07, Vol.8 (7), p.728-730
Main Authors: Merrot, T, Delarue, A, Chaumoitre, K, Panuel, M, Sigaudy, S, Chazalette, J P, Alessandrini, P
Format: Article
Language:fre
Subjects:
Cystic Fibrosis - complications
Cystic Fibrosis - diagnosis
Diagnosis, Differential
Hernia, Inguinal - pathology
Humans
Infant
Male
Oligospermia - etiology
Vas Deferens - abnormalities
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Summary: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. 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. 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.
ISSN:0929-693X