SCREENING YOUNG-SYNDROME PATIENTS FOR CFTR MUTATIONS

Young syndrome is characterized by obstructive azoospermia associated with chronic sinobronchial disease of an infectious nature, but normal sweat-gland and pancreatic function as well as normal nasal potential differences. Congenital bilateral absence of the vas deferens (CBAVD) in some patients arises from mutations within the cystic fibrosis (CF ) transmembrane regulator (CFTR) gene. Because of some similarities be tween Young syndrome, CF, and CBAVD, we evaluated 13 patients with You ng syndrome, including screening for more than 30 different mutations within the CFTR gene. The mean age of the patients was 43 yr (range, 3 2 to 50 yr), and all were of northern European extraction. The sweat c hloride concentration was normal in ail patients (mean = 29 mEq/L; ran ge, 8 to 43 mEq/L). Most had intermittent bronchial and sinus infectio ns, but none was chronically colonized with Staphylococcus aureus or P seudomonas aeruginosa. The FEV(1) was normal or only mildly reduced in most patients (mean = 74%; range, 48 to 100% predicted). Of 26 Young syndrome chromosomes, we identified one with the recognized CF mutatio n Delta F508. The incidence of CFTR mutations (1 in 26) did not differ significantly from the expected carrier frequency in this population. In summary, it is unlikely that the typical Young syndrome patient ha s a clinical disease associated with CFTR mutation on both alleles.