A genomics approach to male infertility.

PURPOSE: Male infertility remains poorly understood at the molecular level. We aimed in this study to investigate the yield of a "genomics first" approach to male infertility. METHODS: Patients with severe oligospermia and nonobstructive azoospermia were investigated using exome sequencing (ES) in parallel with the standard practice of chromosomal analysis. RESULTS: In 285 patients, 10.5% (n = 30) had evidence of chromosomal aberrations while nearly a quarter (n = 69; 24.2%) had a potential monogenic form of male infertility. The latter ranged from variants in genes previously reported to cause male infertility with or without other phenotypes in humans (24 patients; 8.4%) to those in novel candidate genes reported in this study (37 patients; 12.9%). The 33 candidate genes have biological links to male germ cell development including compatible mouse knockouts, and a few (TERB1 [CCDC79], PIWIL2, MAGEE2, and ZSWIM7) were found to be independently mutated in unrelated patients in our cohort. We also found that male infertility can be the sole or major phenotypic expression of a number of genes that are known to cause multisystemic manifestations in humans (n = 9 patients; 3.1%). CONCLUSION: The standard approach to male infertility overlooks the significant contribution of monogenic causes to this important clinical entity.

Comparison of sperm retrieval rate between superficial and deep dissection during microscopic testicular sperm extraction.

Objective: The purpose of the study was to compare the outcome of microscopic testicular sperm extraction (micro-TESE) between superficial and deep dissection on the same testicle in terms of sperm retrieval rate (SRR). Patients and Methods: In a retrospective study from June 2019 to October 2021, 44 patients with nonobstructive azoospermia who underwent micro-TESE with positive results (mature sperm identified) were included. Eight patients were excluded from the study due to deficient documentation on superficial and deep dissection. A total of 36 patients were included; 60 testicles were examined for superficial and deep biopsies. Testicular histopathology was performed in all patients, and a hormonal evaluation was obtained before the micro-TESE attempt. Results: Thirty-six patients and 60 testicles were included in the study. Of them, 47 (78.3%) testicles had positive results. Superficial TESE was positive in 38 (63.3%) testicles, and deep TESE was successful in 45 (75.0%) testicles. An improvement of 13.9% in the SRR was observed, following deep dissection. However, there was no statistically significant difference (P = 0.166). Rates of positive sperm retrieval (from any side) did not differ significantly based on patients' age, microdissection testicular sperm extraction sides, and hormonal concentrations; these differences were not apparent after superficial or deep TESE. Conclusion: The presented findings suggest that although successful SRRs of deep TESE were higher than that of its superficial counterpart, there was no significant statistical difference. A larger body of evidence is needed to provide a higher grade of recommendation.

Spontaneous pregnancy post orchidopexy of bilateral retractile testes in an adult: A case report.

Retractile testes have been associated with male factor infertility. However, whether surgical correction is indicated in those males is unknown. Herein, we report a case of a 37 year old male with primary infertile for 7 years with no apparent cause other than retractile testes. Bilateral orchidopexy was done and his wife achieved spontaneous pregnancy and delivery of a healthy girl.

Micro-dissection testicular sperm extraction in Klinefelter's syndrome patients, King Faisal Specialist Hospital and Research Center, Riyadh experience.

BACKGROUND: In Klinefelter's syndrome patients with azoospermia, microscopic testicular sperm extraction (m-TESE) can be proposed as a therapeutic option. AIM OF STUDY: The aim of this study is to assess the sperm retrieval rate in patients with Klinefelter syndrome in King Faisal Specialist Hospital, Riyadh. METHODOLOGY: Retrospective, Chart review of 32 patients with Klinefelter syndrome who underwent m-TESE were reviewed and analyzed. All patients had two sets of semen analysis after 3 - 5 days abstinence of ejaculation with further study of semen by in vitro fertilization (IVF) wash. The hormonal analysis was studied. Ultrasonography of testes was assessed preoperatively. Testicular tubules were sent to the IVF laboratory and were studied under the microscope looking for sperms. Some testicular tissues were sent for the histopathology diagnosis. RESULTS: Patients' mean age was 34.9 ± 6.0 years. Mean hormonal levels of E2, FSH, LH, prolactin, and testosterone were 96.0 ± 22.0 pmol/L, 29.8 ± 5.4 IU/L, 19.0 ± 2.9 IU/L, 15.4 ± 3.6 ug/L, and 10.0 ± 1.9 nmol/L, respectively. There were two mosaic Klinefelter syndrome patients (6.25%), whereas 30 patients had a nonmosaic form (93.75%). The overall sperm retrieval rate was 37.5%. All patients had small bilateral testes. Sperm retrieval was successful in three patients with hypospermatogenesis, one patient with maturation arrest, and 8 patients with Sertoli-cell-only pattern. Four patients with complete hyalinization of testicular tissues had complete failure to retrieve sperms. The pregnancy rate after intra-cytoplasmic sperm injection was 50%. CONCLUSIONS: The sperm retrieval rate in Klinefelter syndrome patients with m-TESE is in accordance with most of those reported in the literature. Regarding histopathology, hypo-spermatogenesis showed a favorable outcome. The pregnancy rate with intra-cytoplasmic sperm injection was 50%.

Zinner's syndrome: Case report of a rare maldevelopment in the male genitourinary tract.

Zinner syndrome is a rare congenital malformation of the urogenital tract. It is due anomaly in the developmental of Wolffian duct. Zinner syndrome comprises triad of seminal vesicle cyst, unilateral renal agenesis and ipsilateral ejaculatory duct obstruction. It is frequently associated with infertility. Herein we are highlighting a case of a 35 years-old male, a father of 4 biological children who presented to our clinic due to right hemiscrotal pain, associated with post ejaculation pain.

Infertility secondary to an infected hydrocele: A case report.

Hydroceles are one of the most common causes of scrotal swelling affecting around 1% of the adult population. While hydroceles are usually asymptomatic, some hydroceles can lead to infertility. We will present a case of a 34-year-old man who was referred to our center as a case of primary infertility (sever oligospermia 1.1 million/ml) for 4 years and was found to have bilateral hydroceles (infected right hydrocele). At 18 months post bilateral hydrocelectomy, the patient's total sperm count improved to 43 Million/ml. Therefore, we highly recommend considering hydrocele as an etiology in any patient with idiopathic infertility.

Intra-scrotal extra-testicular schwannoma: A case report and literature review.

Intra-scrotal schwannoma is a rare neoplasm and a few reports were describing this entity in the literature and mostly difficult to be diagnosed pre operatively(1) We recently treated a case of intra-scrotal extra-testicular schwannoma which was discovered in a patient with history of painless scrotal lesion for 5 years. paratesticular lesion excision was done which was result as schwannoma tissue. follow up with US scrotum was unremarkable for the patient. surgical excision will provide diagnostic and therapeutic goals. Even tough recurrence is rare a urologist should take care to ensure complete surgical resection.

Male Infertility in Robertsonian Translocation: A Case Report.

BACKGROUND Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic material; they are usually phenotypically normal adults who present with reproductive issues. Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal semen analysis. Some patients have positive sperms in the ejaculate. Therefore, fertility management can be offered to couples to achieve pregnancy and delivery of healthy neonates. CASE REPORT We present 2 cases of 34- and 35-year-old males who presented to our tertiary care hospital because of primary infertility. Semen analysis showed nonobstructive cryptozoospermia and azoospermia, respectively. Genetic tests revealed ROB translocation (13;14). Fertility treatment was offered to both couples. CONCLUSIONS Males with ROB translocation can have positive sperms in the ejaculate. A multidisciplinary approach should be offered to the couples to help them achieve clinical pregnancy, reduce the risk of miscarriage, and increase the rates of delivery of healthy neonates.