GENETIC-DISEASES OF THE SEMINAL DUCTS

Azoospermia due to an obstruction of the genital tract is one of numer ous possible pathophysiologic mechanisms underlying male infertility. The blockage of the seminal ducts may be acquired or congenital. Only recently has the strong association between mutations in the cystic fi brosis transmembrane conductance regulator (CFTR) gene and various sub types of obstructive azoospermia been elucidated. Most patients with c ongenital bilateral absence of the vas deferens or bilateral ejaculato ry duct obstruction are carriers of such mutations. The relationship b etween abnormal CFTR alleles and unilateral absence of the vas deferen s, isolated seminal vesicle anomalies, and Young syndrome is less well characterized and awaits further investigation. (C) 1998 Elsevier, Pa ris.