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.

Sociodemographic and Occupational Factors Associated With Burnout: A Study Among Frontline Healthcare Workers During the COVID-19 Pandemic.

Purpose: To describe the prevalence of burnout among frontline healthcare workers (HCWs) during the COVID-19 pandemic and the associated sociodemographic and occupational factors. Methods: A cross sectional survey study was carried out to study HCWs burnout using the 19-item Full Copenhagen Burnout Inventory (CBI) that includes personal, work, and patient-related burnout subscales. Bivariate analysis was used to test for associations and p < 0.05 was considered statistically significant. Results: A total of 207 responses received; where the mean score of personal burnout was 67.23, the mean of work-related burnout was 61.38, and the mean of patient-related burnout was 54.55. Significant associations were found; where female HCWs, those working in rotating day-and-night shifts, working more than 55-h per week, and who had their shift time and hours changed during the pandemic, had higher levels of personal and work-related burnout (P < 0.05). Patient-related burnout was higher among those who were single (divorced or separated), nurses, non-Citizens, those with fewer years of experience, and who were infected by COVID-19 and have been quarantined (P < 0.05). Age was not a significant factor of burnout in any of the CBI subscales. Conclusions: There is a prevalent level of burnout among frontline HCWs during the COVID-19 pandemic. Findings highlight key sociodemographic and occupational factors affecting burnout; which can help planning for psychological support strategies. Furthermore, effective administrative control is important to institute policies and mechanisms to identify, and freely report burnout symptoms among HCWs to promote their wellbeing.

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.

Electronic Cigarettes as a Cause of Stuttering Priapism: A Case Report.

BACKGROUND Having painful intermittent penile erections that last less than 4 h is known as stuttering priapism. Sickle cell disease is a well-known risk for stuttering priapism; although, other causes could be related to this disorder. To date, no study has examined the relationship between stuttering priapism and electronic cigarettes (e-cigarettes). CASE REPORT We present a case of a 31-year-old man who came to our clinic with recurrent stuttering priapism. He had no chronic medical illnesses. He had smoked half a pack of cigarettes per day for the past 6 years but had shifted to vaping e-cigarettes for which he used several e-fluids and brands. His stuttering priapism started approximately 1 week after he began vaping. A detailed history and physical examination were unremarkable. Laboratory results showed a normal complete blood count and metabolic panel along with a normal testosterone level and negative sickle cell screening test. The chest X-ray and abdominal and pelvic ultrasound were normal. Initially, we reassured the patient; however, his condition persisted with no significant changes in his general health or lifestyle. We asked him to stop using e-cigarettes, and after he stopped, his stuttering priapism surprisingly completely resolved. He has not experienced a single episode of stuttering priapism in the 3 months since the cessation of e-cigarettes use. CONCLUSIONS The relationship between stuttering priapism and e-cigarettes remains largely unexplored in the literature. Whether e-cigarettes and e-fluids represent a risk factor for priapism in novice e-cigarette smokers warrants further investigation.

Splenogonadal fusion: A rare case report and literature review.

Splenogonadal fusion is a rare benign congenital anomaly with few cases described in the literature. It is 16 times more common in males than in females. A 22 year-old healthy male with cryptorchidism presented with preoperative imaging strongly suggestive of malignancy. Histopathology after left orchiectomy showed mixed splenic and testicular tissue with no sign of malignancy. Splenogonadal fusion is rarely diagnosed preoperatively. It should be included in differential diagnoses in patients presenting with a testicular or abdominal mass. Greater recognition of this rare anomaly may facilitate testis sparing surgery in future cases.

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.

Minimally invasive treatment of ureterovaginal fistula: A review and report of a new technique.

BACKGROUND: An iatrogenic ureterovaginal fistula (UVF) can be a consequence of difficult pelvic surgery. The patient must endure a long wait before having major surgery to reconstruct the injured ureter. Reports that address the minimally invasive treatment of UVF are limited, and are reviewed here. We introduce the concept of using a Memokath™ 051 stent (PNN A/S, Hornbaek, Denmark) as a promising minimally invasive approach for UVF. METHODS: We used PubMed, Science Direct, Google and the Cochrane Library to assemble appropriate evidence-based reference reports. The keywords used for the search were: 'Memokath', 'stent'; 'ureterovaginal fistula' and 'ureteral injury'. The review showed 42 relevant articles published up to September 2011. RESULTS: Ureteric stenting consistently stopped the vaginal leak of urine. The long-term results were not encouraging after removing the JJ stents at 3 months after insertion. Most patients had a recurrence of the vaginal leak of urine. The outcome was different with the Memokath stent, that remained in situ for a duration far exceeding that of the JJ stent. The Memokath stopped the vaginal leak of urine with no episodes of urinary tract infection and no evidence of stent migration. CONCLUSION: Long-term ureteric stenting has two advantages, in that it facilitates urine flow through the ureteric strictured segment down to the bladder, and it stops urine leakage along the fistula. It further promotes the resolution of the ureteric stricture and healing of the fistula. A duration of 3 months was inadequate when a JJ stent was used, whereas longer periods are possible with the Memokath stent. The optimum stenting period required for complete healing of a UVF remains to be defined. Long-term Memokath ureteric stenting can be an effective alternative and minimally invasive approach to conventional surgical repair in selected cases.