Congenital bilateral absence of vas deferens and inguinal herniorrhaphy inan infant: an early and rare presentation of cystic fibrosis

Epididymal and ductal anomalies can be discovered incidentally during ingui nal hemiorraphy in children. The congenital bilateral absence of vas defere ns is frequently associated with cystic fibrosis. Case report. - This agenesia of vas deferens was detected in a 5-month-old boy who underwent an inguinal hemiorraphy. Although the child did not prese nt any symptoms, he actually presented cystic fibrosis: the sudoral test sh owed high levels of chloride (95 mmol/L) and an isolated homozygous delta F 508 deletion on the gene CFTR was evidenced on genetic investigations. Conclusion. - The congenital bilateral absence of vas deferens is the most frequent anomaly of the male genital tract discovered in adults investigate d for azoospermia. Relations with cystic fibrosis are well established but congenital bilateral absence of vas deferens discovered during infancy is a n exceptional situation that requires genetic investigations to show eviden ce of a likely underlying cystic fibrosis. (C) 2001 Editions scientifiques et medicales Elsevier SAS.