Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.

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Abstract
Cystic fibrosis (CF) is the most common serious autosomal recessive condition in whites, with a prevalence of approximately 1 per 2500 and a carrier frequency of 1 per 25.1 The gene responsible for CF, called the cystic fibrosis transmembrane conductance regulator (CFTR), encodes the cyclic adenosine monophosphate (cAMP)–dependent chloride channel found in the apical membrane of secretory epithelial cells.1 Clinical features of CF include chronic pulmonary obstruction and infections, exocrine pancreatic insufficiency, neonatal meconium ileus, elevated sweat electrolytes, and male infertility.1,2 The vast majority (>95%) of men with CF are azoospermic (absence of spermatozoa in ejaculate) due to anomalies in Wolffian duct-derived structures, with the body and tail of the epididymis, vas deferens, seminal vesicles, and ejaculatory ducts being atrophic or absent.3-6