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Human Reproduction, Vol. 10, No. 2, pp. 338-341, 1995
© 1995 European Society of Human Reproduction and Embryology

research-article

Genetics: Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach

D.Le Lannou1,4, P. Jezequel2, M. Blayau2, I. Dorval2, P. Lemoine1, A. Dabadie3, M. Roussey3, B.Le Marec3 and J.Y. Legall2

1Unité de Biologie de la Reproduction, CECOS de L'Ouest, CHU Hotel-Dieu, 35000 Rennes 2Laboratoire de Génétique Moléculaire, Service de Biochimie Médicale B, CHU Pontchaillou, 35000 Rennes and UPR 41 CNRS, Faculté de Médecine 35043 Rennes Cedex 3Centre de Soins de Mucoviscidose, Service de Pédiatrie Génétique Médicale CHU Pontchaillou, 35000 Rennes, France

Correspondence: 4To whom correspondence should be addressed at: Département de Gynécologie-Obstétrique et Reproduction Humaine, Unité de Biologie de la Reproduction, CECOS de L'Ouest, CHU Hotel-Dieu, 1 rue de la Cochardière, 35000 Rennes, France

Two groups of infertile men with obstructive azoospermia were screened for cystic fibrosis (CF) gene mutations ({Delta}F508, exons 3, 4, 7, 10, 11, 14a, 17b, 19, 20, 21). The first group was composed of 26 patients with congenital agenesis of vas deferens (CAVD). The second group was composed of 12 patients with obstructive azoospermia associated with chronic suppurating respiratory disease (Young's syndrome). Of the group with CAVD, 77% of patients showed at least one mutation in the CF transmembrane conductance regulator (CFTR) gene. The {Delta}F508 mutation occurred most frequently (54%), and the second most frequent mutation to occur was R117H (27%). Six patients were double heterozygotes. In Young's syndrome, no CF mutations were detected. CAVD can be considered as an incomplete clinical form of CF. However, the differences observed in CF mutations between CF and CAVD suggest that they are different disorders resulting from mutations in the same gene. Young's syndrome is a very different clinical entity.

Key words: azoospermia/bronchiectasia/congenital agenesis of vas deferens/cystic fibrosis/Young's syndrome


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