Journal of Reproductive Medicine for the Obstetrician and Gynecologist, vol.51, no.8, pp.628-634, 2006 (SCI-Expanded)
OBJECTIVE: To explore the possible relationship between Y-chromosome microdeletions and a rare spermatogenic disorder, globozoospermia. STUDY DESIGN: Twelve patients with 100% globozoospermia were evaluated. Each man was questioned about his medical and surgical history and underwent a thorough andrologic examination. Plasma follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone and prolactin levels were measured. Routine sperm analysis and morphology with electron microscopy were done. A set of 17 Y-specific sequence-tagged sites spanning the 3 AZF regions and also RBM1, ZFY, SRY, sY78, CDY, BPY2 and PRY were tested to detect the existence of Y-chromosome microdeletions by polymerase chain reaction. RESULTS: The mean age of the patients was 36 years (range, 27-42). No patient had abnormal blood concentrations of FSH, LH, testosterone or prolactin. Semen analysis revealed normal values for volume (2.2 mL) and concentration (32×10 6/mL) but subnormal values for motility (37%) and progressive motility (24%). On light and electron microscopy, all the spermatozoa were round headed, with abnormal morphologic features. Patients had normal 46,XY karyotyping. No microdeletion of the Y chromosome was detected in any patient. CONCLUSION: Although this study did not find any Y-chromosome microdeletions in patients with globozoospermia, the exact genetic locus resulting in this pathology requires further study. © Journal of Reproductive Medicine®, Inc.