Reproductive abnormalities in canine fucosidosis.

Male English springer spaniel dogs affected with fucosidosis, a lysosomal storage disorder, were found to be infertile while females with the disease reproduced successfully. Ejaculates of semen collected from affected dogs had reduced total sperm output and morphologically abnormal spermatozoa. A high proportion of ejaculated spermatozoa had midpiece droplets, bent tails and poor motility. Severely vacuolated epididymal epithelial cells were observed by light microscopy. Electron microscopic examination revealed membrane-bound vacuoles of variable size containing scanty amounts of granular to fibrillar material in epididymal epithelial cells, smooth muscle, myoid cells and Sertoli cells. Male infertility is believed to result from lysosomal storage of fucosyl-linked substrates in cells of the reproductive system. The extensive lesions in the epididymis may have interfered with maturation and transport of spermatozoa. Also, deficiency of alpha-L-fucosidase activity could have impaired the shedding of cytoplasmic droplets from spermatozoa and altered the surface glycoprotein composition of the sperm during epididymal transit.