1/6. Constitutional mosaic trisomy 21 and azoospermia: a case report.Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient's azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure. ( info) |
2/6. Clinical, hormonal and sonographic features of the identical twins with klinefelter syndrome--a case report.A rare case of klinefelter syndrome in identical twins is reported. Hormonal levels before and after hCG administration and testicular artery Doppler flow measurements are presented. ( info) |
3/6. An ongoing pregnancy after frozen thawed embryo transfer in a patient with Klinefelter's syndrome.BACKGROUND: pregnancy following frozen thawed embryo transfer in a patient with nonmosaic Klinefelter's syndrome is extremely rare. A healthy ongoing pregnancy achieved with frozen thawed embryo transfer in a patient with nonmosaic Klinefelter's syndrome was described. METHOD: A case report from a tertiary center for assisted reproductive technologies. A 34-year-old man with azoospermia and nonmosaic Klinefelter's syndrome and his 26-year-old wife presented with primary infertility of 8 years' duration. Frozen thawed embryo transfer following intracytoplasmic sperm injection using surgically retrieved spermatozoa was performed. RESULTS: A healthy ongoing pregnancy with a normal 46,XY karyotype was achieved with day 3 frozen thawed embryo transfer. CONCLUSION: Frozen thawed embryo transfer may be a viable option to achieve pregnancy in patients with Klinefelter's syndrome. ( info) |
4/6. Natural transmission of AZFb Y-chromosomal microdeletion from father to his three sons.Microdeletions of the so-called azoospermia factor (AZF) locus of the y chromosome long arm (Yq) are an etiological factor of severe oligozoospermia or azoospermia. patients affected are infertile unless assisted reproductive techniques are used. We report the case of an azoospermic patient (proband) and three brothers who inherited a Yq microdeletion from their father through a spontaneous pregnancy. Leukocyte dna was extracted using a commercially available kit. A total of 15 pairs of sequence-tagged site (STSs) based primers, spanning the AZFa, b and c regions, were used for screening. All brothers and their father carried a Yq microdeletion of the AZFb subregion where the rna-binding motif (RBM) gene is located. The proband carried additional deletions of the AZFa and AZFb subregions. RBM deletion can be associated with oligozoospermia allowing natural conception and therefore natural transmission of this genetic anomaly. ( info) |
5/6. Use of transperineal fine needle aspiration of seminal vesicles to retrieve sperm in a man with obstructive azoospermia.OBJECTIVE: To report the successful and feasible use of transperineal fine needle aspiration of seminal vesicles (FNASV) for sperm retrieval in obstructive azoospermia. DESIGN: Case report. SETTING: Outpatient care in institutional clinic. PATIENT(S): A 31-year-old man with obstructive azoospermia due to a middle prostatic mullerian cyst. INTERVENTION(S): Transperineal FNASV using a coaxial 17-gauge TruGuide needle. MAIN OUTCOME MEASURE(S): Feasibility of sperm retrieval suitable for future in vitro fertilization. RESULT(S): Transperineal FNASV made it possible to aspirate 11 mL of fluid with a sperm count of 100 million/mL and 15% motility. This sample was cryopreserved for in vitro fertilization using intracytoplasmic sperm injection. CONCLUSION(S): Transperineal FNASV using a coaxial needle may be a further method for sperm retrieval to add to the repertoire of assisted reproduction technologies. ( info) |
6/6. Constitutional complex chromosomal rearrangements in azoospermic men--case report and literature review.Complex chromosomal rearrangements are very rare and may lead to spermatogenic defect. We report on an infertile man with complex constitutional chromosomal rearrangements. The chromosomal breakpoints were located at 9p22, 13q22, and 21p11. This is the seventh case, to our knowledge, of complex chromosome rearrangements in a man presenting with a spermatogenic defect. The spermatogenic defect may be ascribed to disruption of sterile genes during chromosomal breakage or abnormal meiotic segregation of the rearranged chromosomes. ( info) |