Congenital bilateral absence of the vasa deferentes and related respiratory disease

In a large percentage of cases, congenital bilateral absence of the vas deferens (CBAVD) is recognised as a probable consequence of CFTR gene mutations. This leads to a further enlargement of the spectrum of clinical pictures caused by 'CFTR deficiency'. More recently, the identification of a polymorphism in intron 8 regulating the correct CFTR transcription, shed new light on the genotype-phenotype correlation of CFTR mutations. Unfortunately, little information is still available on the clinical manifestations of CBAVD other than infertility. History, clinical picture, sweat test and genotype were carefully evaluated in a series of 7 patients affected by CBAVD, selected from those with obstructive azoospermia. History collection was focussed on respiratory and gastrointestinal symptoms. (Tab I). Family history was always negative for CF. Nevertheless, personal history showed respiratory symptoms: 3/7 patients suffered from chronic sinusitis and one of these had had a pneumothorax. Three other patients had chronic nasal obstruction, due to recurrent nasal polyposis in one case. The sweat test was clearly abnormal in 5/7 and borderline in the remaining 2 patients. Genetic analysis detected one mutation in 5/7 patients (71%). Our data show that respiratory symptoms may be present in CBAVD patients , so that CBAVD cannot be considered as merely a 'genital form' of CF.