Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions.

The isodicentric Y (idic Y) chromosome is one of the most common aberrations of the human Y chromosome. Due to a structural instability during cell division, patients with idic Y may develop mosaic karyotypes with variable phenotypes. We present a rare case of a 25-year-old male with azoospermia and infertility. In this patient, an idic Yq was characterized by duplication of almost the entire Y chromosome in head-to-head fashion with breakpoints occurring at the distal Yp / Yp11.3 with sparing of both the AZF and SRY regions. We discuss the possible mechanisms of azoospermia in this patient and add to the limited evidence that exists regarding the importance of pseudoautosomal regions and meiotic sex chromosome pairing as part of normal spermatogenesis.

Palliative Subcutaneous Tunneled Nephrostomy Tube (PSTN): a simple and effective technique for management of malignant extrinsic ureteral obstruction.

The establishment and maintenance of effective urinary tract drainage for patients with malignant extrinsic ureteric obstruction is a formidable challenge for the urologist. We have utilized an alternative method of urinary diversion, called Palliative Subcutaneous Tunneled Nephrostomy Tubes (PSTN), for long term urinary tract drainage when intracoropreal stenting has failed or is not tolerated. PSTN provides a simple and effective method of external urinary diversion and preservation of renal function. This technique should be an option in the armamentarium of urologists for management of malignant ureteral obstruction.

Renal colic and torsion: case report and review.

Acute ureteric colic and acute scrotum are among the most commonly seen urological emergencies. We present a case in which a male patient presented with simultaneous right flank pain and ipsilateral scrotal pain.

A single-center study examining the outcomes of percutaneous epididymal sperm aspiration in the treatment of obstructive azoospermia.

INTRODUCTION: Obstructive azoospermia (OA) is characterized by normal spermatogenesis and the absence of sperm in the ejaculate. Variable success rates have been reported using in-vitro fertilization (IVF) combined with PESA in cases of men with OA. AIMS: To determine fertilization and pregnancy outcomes from PESA-derived spermatozoa and to ascertain whether frozen spermatozoa yields similar outcomes compared to fresh specimens. MATERIALS AND METHODS: The charts of 68 consecutive couples undergoing 68 cycles of sperm retrieval for OA over eight years (2002-2010) were retrospectively reviewed. Patients requiring testicular intervention were excluded (n = 17). RESULTS: Viable sperms were identified in 100% of men, and fresh spermatozoa were obtained in 40 patients (78.4%) simultaneously with female egg retrieval. The average fertilization rate was 77.7% with five embryos not surviving to transfer (12.5%). Pregnancies were confirmed in 48.6% (17/35). Twin gestations occurred in 11.8% (2/17) of cases. Frozen-thawed spermatozoa were used in 11 patients (21.6%). In this subgroup, the average fertilization rate was 73.6% with pregnancies confirmed in 54.5% (6/11). No multiple gestations were generated, and no complications occurred. The use of fresh spermatozoa for PESA provided no significant improvements in outcomes over frozen specimens. SUMMARY: PESA is a very effective, simple, and safe method of obtaining spermatozoa for IVF. Outcomes obtained using fresh and frozen PESA-derived spermatozoa were similar and as such, either could be used during the IVF process.

Cost-effectiveness analysis reveals microsurgical varicocele repair is superior to percutaneous embolization in the treatment of male infertility.

INTRODUCTION: Varicoceles are a common cause of male infertility; repair can be accomplished using either surgical or radiological means. We compare the cost-effectiveness of the gold standard, the microsurgical varicocele repair (MV), to the options of a nonmicrosurgical approach (NMV) and percutaneous embolization (PE) to manage varicocele-associated infertility. METHODS: A Markov decision-analysis model was developed to estimate costs and pregnancy rates. Within the model, recurrences following MV and NMV were re-treated with PE and recurrences following PE were treated with repeat PE, MV or NMV. Pregnancy and recurrence rates were based on the literature, while costs were obtained from institutional and government supplied data. Univariate and probabilistic sensitivity-analyses were performed to determine the effects of the various parameters on model outcomes. RESULTS: Primary treatment with MV was the most cost-effective strategy at $5402 CAD (Canadian)/pregnancy. Primary treatment with NMV was the least costly approach, but it also yielded the fewest pregnancies. Primary treatment with PE was the least cost-effective strategy costing about $7300 CAD/pregnancy. Probabilistic sensitivity analysis reinforced MV as the most cost-effective strategy at a willingness-to-pay threshold of >$4100 CAD/pregnancy. CONCLUSIONS: MV yielded the most pregnancies at acceptable levels of incremental costs. As such, it is the preferred primary treatment strategy for varicocele-associated infertility. Treatment with PE was the least cost-effective approach and, as such, is best used only in cases of surgical failure.

Diagnosis and treatment of azoospermia resulting from testicular sarcoidosis.

Genitourinary sarcoidosis is uncommon, with only rare documented cases of testicular involvement reported. We detail the case of a 37-year-old male who initially presented for azoospermia and secondary infertility. A testicular biopsy revealed nonnecrotizing granulomas and a chest x-ray identified perihilar lymphadenopathy and granulomatous lung nodules. A corticosteroid regimen was administered, and routine semen analyses were conducted. Significant improvements were noted after prednisone treatments. A successful in vivo fertilization was obtained. This is the first known case of testicular sarcoidosis diagnosed during investigations into azoospermia and secondary infertility which, after treatment with corticosteroids, resulted in natural fertilization.

Factors predicting overall success: a review of 747 microsurgical vasovasostomies.

OBJECTIVES: Advances in surgical techniques have improved the outcome of microsurgical vasovasostomy (VV). We performed a retrospective analysis of surgical procedures to determine outcomes and predictors of VV success, to develop Kaplan-Meier Curves for predicting VV outcomes and to evaluate the use of alpha-glucosidase (AG) to predict outcomes. PATIENTS AND METHODS: We undertook a retrospective analysis of 747 modified 1-layer microsurgical VV procedures performed between 1984 and 2000. Obstructive interval, partner status, social status preoperatively and method of vasal obstruction, vasal fluid quality and sperm granuloma intraoperatively were compared with outcome results. Parameters evaluated at follow-up included semen analysis, AG concentration in ejaculate fluid and pregnancy rates. RESULTS: The overall patency rate was 86% and pregnancy rates were 33% and 53% at 1 and 2 years after primary VV, respectively. Preoperative factors associated with successful outcome and pregnancy included shorter obstructive interval and same female partner (p < 0.05). Intraoperative factors predicting success included the use of surgical clips instead of suture at vasectomy, the presence of a sperm granuloma, the presence and quality of vasal fluid, and the presence and quality of sperm in vasal fluid. Further, increased AG in the postoperative semen predicted improved patency and pregnancy outcomes. CONCLUSION: This study confirms the effectiveness of VV for vasectomized men who wish to father children. It also demonstrates that preoperative and intraoperative factors are predictive of the VV outcome. Postoperative AG is also a useful marker of patency and it appears to predict pregnancy outcome.

Human sperm DNA integrity: correlation with sperm cytoplasmic droplets.

OBJECTIVES: To examine the retention of sperm cytoplasmic droplets (CD) and DNA denaturation (DD) in semen from fertile and infertile men. METHODS: Semen samples were obtained from consecutive nonazoospermic men presenting for infertility evaluation (n = 101) and fertile men presenting for vasectomy (n = 13). The standard semen parameters (sperm concentration, motility, and morphology), sperm DD, and sperm CD were monitored. Sperm DD was evaluated by flow cytometry analysis of acridine orange-treated spermatozoa and expressed as the percentage of spermatozoa demonstrating denatured DNA. RESULTS: The mean (+/-SE) percentages of spermatozoa with CD and DD were significantly higher in infertile than in fertile men (sperm CD 15.7% +/- 0.8% versus 4.8% +/- 0.7% and sperm DD 22.0% +/- 1.5% versus 10.8% +/- 1.8%, respectively). Sperm CD and DD were positively correlated (r = 0.59). Also, sperm CD and DD values correlated inversely with the standard semen parameters. CONCLUSIONS: Our data demonstrate that the retention of sperm CD correlates positively with sperm DD and that significantly higher sperm DD and CD are found in infertile than in fertile men. These data suggest that the enhanced susceptibility of sperm DNA to denaturation is associated with the abnormal disposal of residual sperm cytoplasm in the testis and/or epididymis.

Use of alternative and hormonal therapies in male infertility.

OBJECTIVES: To examine the patterns of use of alternative and hormonal therapies in men presenting for infertility evaluation. METHODS: We administered a questionnaire on the use of alternative and hormonal therapies to 500 consecutive men presenting for infertility evaluation at our male infertility clinic. The questionnaire asked about the use of specific therapies (eg, vitamins, herbal medicine, or hormones), the monthly cost of these therapies, and whether the principal healthcare provider had been made aware of the use of therapies. RESULTS: Of the 481 men who completed the questionnaire, 147 (31%) admitted to using one or more alternative therapies. Most of the men using alternative therapies (92 of 147, 63%) were taking one or more antioxidant vitamins or minerals (ie, vitamins C, E, selenium, zinc), and 18 men admitted to using herbal medicines. Of concern, 25 men reported using agents with clear hormonal activity (testosterone, clomiphene citrate), and 6 of these men had not informed their principal healthcare provider of this. CONCLUSIONS: Our data suggest that a significant percentage ( approximately 30%) of men presenting for infertility evaluation do use alternative therapies. It is important to inquire about the use of these therapies because some of these treatments may be toxic to the gonads.

Prevalence of abnormal sperm DNA denaturation in fertile and infertile men.

OBJECTIVES: To examine the prevalence of abnormal sperm DNA denaturation (DD), a marker of sperm DNA integrity, in a group of fertile and infertile men. METHODS: Eighty-eight nonazoospermic, infertile men and 13 fertile men underwent standard semen analysis and acridine orange sperm DNA integrity studies. Standard semen parameters (sperm concentration, motility, and morphology) and sperm DNA integrity (expressed as the percentage of spermatozoa with DD) were measured. RESULTS: Of the 88 infertile men, 13 had completely normal semen parameters and the remaining 75 had at least one abnormal semen parameter. The mean (+/-SE) sperm DD level was significantly lower in the population of infertile men with normal semen parameters compared with those having abnormal parameters (11.1% +/- 3.7% versus 23.1% +/- 1.8%, respectively, P <0.001). Only 1 (8%) of the 13 men with normal semen parameters had elevated sperm DD (greater than 30%, verified on two separate analyses) compared with 13 (17%) of the 75 infertile men with abnormal semen parameters (P >0.05). None of the fertile controls had elevated sperm DD. We observed significant inverse correlations between the sperm DD and sperm motility, morphology, and concentration (P <0.001). CONCLUSIONS: Our data show that sperm DD negatively correlates with standard semen parameters and that an isolated abnormality of sperm DD, a marker of sperm DNA integrity, is uncommon in infertile men. Additional studies are needed to support the notion that isolated abnormalities of sperm DNA integrity may represent a new diagnosis for men with unexplained infertility.