Iyer S, Amegashie C, deMartelly V et al: Patient perceptions impact progression to third-line therapy for treatment of overactive bladder. J Urol 2021; 206: 1240–1247.

(Special thanks to Drs. Rabun Jones and Omer Acar at the University of Illinois at Chicago.)

Overactive bladder (OAB) affects up to 43% of American women. Treatments range from behavior modifications to procedural interventions. As a disorder that greatly affects quality of life, patient input is paramount when selecting appropriate therapy. This study sought to assess patient reasoning in decision making for third-line therapy and the factors that may influence that decision.

Via a mixed-methods approach, 51 women with medical therapy for OAB completed surveys and interviews to determine their impressions of third-line therapy and the rationale for their treatment decisions. During the study duration of 6 months, although 75% of patients were interested in third-line therapies, only 37% actually progressed to those treatments. Of those, 52.6% chose percutaneous tibial nerve stimulation (PTNS), 47.4% chose botulinum toxin A, and none chose sacral neuromodulation (SNM). Patients were motivated toward therapy by the cost of incontinence products and their embarrassment. Their concerns included the side effects and invasiveness of third-line therapy.

Notably, this qualitative study was concluded in August 2019 and did not include newer magnetic resonance imaging-compatible or rechargeable SNM devices, so its findings may not be reflective of today’s patient preferences. Some limitations also exist due to the small sample size and mixed-methods approach employed in the study, but the themes identified suggest that counseling matters more than we may acknowledge. This study is an important reminder that assessing patient understanding of therapeutic options is a critical component of shared decision making, whether in the setting of OAB or any urological issues affecting quality of life.

Bentellis I, El-Akri M, Cornu JN et al: Prevalence and risk factors of artificial urinary sphincter revision in nonneurological male patients. J Urol 2021; 206: 1248–1257.

(Special thanks to Drs. Andrew Lai and Omer Acar at the University of Illinois at Chicago.)

Artificial urinary sphincter (AUS) is regarded as the gold standard for treatment of male stress urinary incontinence (SUI), yet much of the existing literature regarding the prevalence and risk factors for device revision is limited.

The authors reviewed retrospective data from more than 1,000 males who underwent AUS implantation in 16 French centers over 16 years, excluding those with neurogenic SUI and those who underwent AUS revisions due to infection or cuff erosion. Most patients (86.8%) suffered from incontinence following radical prostatectomy.

Over the study period, 214 of 1,020 patients (21%) underwent at least 1 AUS revision. Over half of those revisions were due to nonmechanical failures defined as recurrent or persistent SUI despite a normally functioning AUS compared with 27% that were due to mechanical failures. The overall median time to AUS revision was 9 years. Although the median followup time was 20 months, the estimated 5-year and 10-year revision-free rates were 60% and 40%, respectively. Larger cuff size was the only predictor of revision overall and for nonmechanical failure. The authors did not identify any significant risk factors for mechanical failure.

This is the largest series published to date on AUS revisions. These results challenge the existing hypothesis that implanting smaller cuffs increases the risk of revision by means of urethral atrophy. Yet the generalizability of the study is limited, because the authors chose to exclude patients who had revisions due to infection or cuff erosion. Moreover, the surgical technique, preoperative workup and postoperative followup were not standardized across participating centers. Nevertheless, this study provides valuable insight with regards to patient counseling and highlights the importance of appropriate cuff size selection.

Nagirnaja L, MØrup N, Nielsen JE et al: Variant PNLDC1, defective piRNA processing, and azoospermia. N Engl J Med 2021; 385: 707–719.

(Special thanks to Drs. Erica Ditkoff and Martin Kathrins at the Brigham and Women’s Hospital.)

Although roughly 1 in 6 couples suffer from infertility attributable to a male factor, little is known about the genetic etiologies of impaired spermatogenesis. Recent observations indicate that pachytene P-element-induced wimpy testis-interacting RNA (piRNA) are indispensable for spermatogenesis. Previous studies in mice linked mutated piRNA processing enzymes such as PNLDC1 to maturation arrest. But what of PNLDC1 mutations in men with azoospermia due to spermatogenic dysfunction (ASD)?

The authors conducted an observational study of 924 men with ASD. DNA exome sequencing and testicular biopsies were performed. An independent cohort of 55 Dutch men with ASD also underwent exome sequencing. Four unrelated men of Middle Eastern descent were identified as carriers of PNLDC1 mutations. Each patient was otherwise healthy with a normal male phenotype. Testicular histopathology revealed maturation arrest at the late pachytene stage. The men had relatively normal follicle-stimulating hormone levels, typical for ASD due to maturation arrest. Additionally, expression of PNLDC1 as well as other piRNA processing enzymes was significantly diminished. In men with PNLDC1 mutations, piRNAs were longer but overall reduced in quantity. Similar numbers of spermatogonia in study patients and fertile controls were observed.

Of the 3 patients with PNLDC1 mutations for whom sperm retrieval data were available, no sperm were obtained. Overall, this study demonstrates that mutations in PNLDC1 and other genes involved in piRNA processing likely lead to impaired spermatogenesis in a small subgroup of men with ASD. These results add to our limited library of genomic tests for severe male factor infertility, specifically for maturation arrest.