PULMONARY-FUNCTION AND CLINICAL OBSERVATIONS IN MEN WITH CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS

Congenital bilateral absence of the vas deferens (CBAVD) was once thou ght to be a distinct clinical entity, but genetic similarities in men with cystic fibrosis (CF) and CBAVD are described increasingly, We eva luated the clinical status, growth and nutritional state, and respirat ory function of 18 men with CBAVD to determine whether these men with different CF transmembrane regulator (CFTR) genotypes may have clinica l evidence of mild CF, Following a thorough history and examination, p ulmonary function tests, sweat test, and renal ultrasound were perform ed, Genetic evaluation for 50 known CF mutations, screening for privat e mutations (single-strand conformational polymorphism and direct sequ encing), and assay of the length of the polypyrimidine tract in the sp lice site acceptor of intron 8 was performed, A history of pulmonary d isease was present in three, and an additional man had some features s uggestive of malabsorption, Results of general physical examination an d anthropomorphic measurements were unremarkable in all patients, with a mean (SD) body mass index of 26 (3). Pulmonary function tests of la rge and small airway function as web as lung volumes were normal in al l except one whose results were consistent with moderate asthma. Five men were compound heterozygotes for CFTR mutations, four of whom had p ositive sweat tests (sweat chloride >60 mEq/L), Twelve men mere hetero zygotes for CFTR mutations while no mutations were identified in one m an. Although putative etiologic factors may suggest that men with CBAV D and CFTR mutations could be considered within the spectrum of clinic al CF, the authors suggest that in men with CBAVD without any other cl inical features of CF, the diagnosis of CF may not be made.