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PMID 9572418
Gene Name GBA
Condition Male infertility
Association Associated
Population size 71
Population details 71 (27 men with azoospermia, 11 vasectomized men with residual spermatozoa present, 33 men with azoospermia of primary testicular origin)
Sex Male
Infertility type Male infertility
Associated genes alpha-GLUC 
Other associated phenotypes Male infertility


Seminal plasma alpha-glucosidase activity and male infertility

Mahmoud AM, Geslevich J, Kint J, Depuydt C, Huysse L, Zalata A, Comhaire FH.

Measurement of alpha-glucosidase (alpha-GLUC) activity by means of a simple colorimetric test using a commercial kit (EpiScreen; FertiPro, Lotenhulle, Belgium) yielded results that were strongly correlated with the values obtained for the neutral iso-enzyme measured by a fluorimetric reference method (r=0.85, P=0.003, n=13). The former method was characterized by a low intra- and inter-coefficient of variation (6.6 and 4.3% respectively). Vasectomized men with azoospermia (n=27) had a significantly lower alpha-GLUC activity in semen than vasectomized men with residual spermatozoa present (n=11, P < 0.01) and men with azoospermia of primary testicular origin (n=33, P < 0.01). Receiver operating curve (ROC) analysis showed alpha-GLUC measurement to be reasonably accurate in differentiation between cases with obstructive versus testicular azoospermia at criterion value 13.5 U/l (sensitivity=82%, specificity= 70%). In cases with spermatozoa present, alpha-GLUC activity and output per ejaculate were positively correlated with sperm concentration (r=0.53 and 0.38, n=472), linear velocity (r=0.35 and 0.30, n=224), curvilinear velocity (r=0.32 and r=0.29, n=224), semen adenosine triphosphate (r=0.35 and 0.26, n=64), the concentration of 5alpha-dihydrotestosterone (r=0.31 and 0.29, n=74), and gamma-glutamyltransferase activity (r=0.62 and 0.32, n=275) in seminal plasma. The activity of alpha-GLUC was inversely correlated with ROS generation after 12-myristate, 13-acetate phorbol ester stimulation (r=-0.27, n=104), and both alpha-GLUC activity and total output were inversely correlated with the concentration of peroxidase-positive white blood cells among samples with > or =1x10(6)/ml of these cells (r=-0.30 and -0.19, n=165). It is concluded that simple photometric measurement of alpha-GLUC activity in seminal plasma reflects the functional state of the epididymis and may be helpful for the differential diagnosis of certain cases with azoospermia. FAU - Mahmoud, A M AU - Mahmoud AM AD - Assiut University Hospital, Department of Dermatology and Andrology, Egypt. FAU - Geslevich, J AU - Geslevich J FAU - Kint, J AU - Kint J FAU - Depuydt, C AU - Depuydt C FAU - Huysse, L AU - Huysse L FAU - Zalata, A AU - Zalata A