Incidental finding of a congenital unilateral absence of the vas deferens during robotic inguinal hernia repair: missing a crucial landmark. A case report.

INTRODUCTION: We report on a case of congenital unilateral atresia of the vas deferens encountered during a robotic-assisted transabdominal preperitoneal (TAPP) inguinal hernia repair. CASE REPORT: Our 65-years-old male patient was scheduled for a bilateral robotic-assisted TAPP inguinal hernia repair because of bilateral symptomatic groin hernia. Standard intraoperative dissection obtaining a critical view of the myopectineal orifice did not allow for an identification of the vas deferens (VD) on the left side. On the right side, a normal VD was identified. There was no suspicion of an intraoperative lesion or ligation of the VD. Both gonadal and inferior epigastric vessels were present on both sides. Upon clinical evaluation, no VD was palpable in the scrotum on the left side. The diagnosis of a congenital unilateral absence of the vas deferens was made. Additional abdominal computed tomography scan revealed a congenital agenesis of the left kidney, ureter, vesicula seminalis and vas deferens. DISCUSSION: The accidental finding of a congenital absence of the vas deferens during inguinal hernia repair is rare. However, surgeons performing inguinal hernia repair should be aware of this condition and the clinical implications it poses, as this could prevent unnecessary exploration and missed diagnosis of associated underlying conditions.

CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.

PURPOSE: CFTR variant is the main genetic contributor to congenital (unilateral/bilateral) absence of the vas deferens (CAVD/CUAVD/CBAVD). We performed a systematic review to elucidate the genetic link between CFTR variants, CUAVD, and the associated risk of renal abnormality (RA). METHODS: We searched relevant databases for eligible articles reporting CFTR variants in CUAVD. The frequency of CFTR variants and RA, and the odds ratios (ORs) for common alleles and RA risk, were pooled under random-/fixed-effect models. Subgroup analyses and heterogeneity tests were performed. RESULTS: Twenty-three studies were included. Among CUAVD patients, 46% had at least one CFTR variant, with 27% having one and 5% having two. The allele frequency in CUAVD was 4% for F508del and 9% for 5T. The summary OR for 5T risk in CUAVD was 5.79 compared with normal controls and 2.82 compared with non-CAVD infertile males. The overall incidence of RA was 22% in CUAVD. The pooled OR for RA risk among CUAVD patients was 4.85 compared with CBAVD patients. CONCLUSION: CFTR variants are common in CUAVD, and the 5T allele may be associated with increased CUAVD risk. CUAVD patients bear a higher RA risk than CBAVD patients, but this is not associated with CFTR variants.

Clinical features and microsurgical reconstruction of congenital unilateral absence of the vas deferens with obstructive azoospermia: a tertiary care center experience.

Patients with congenital unilateral absence of the vas deferens (CUAVD) manifest diverse symptoms from normospermia to azoospermia. Treatment for CUAVD patients with obstructive azoospermia (OA) is complicated, and there is a lack of relevant reports. In this study, we describe the clinical features and evaluate the treatments and outcomes of CUAVD patients with OA. From December 2015 to December 2020, 33 patients were diagnosed as CUAVD with OA in Shanghai General Hospital (Shanghai, China). Patient information, ultrasound findings, semen analysis, hormone profiles, and treatment information were collected, and the clinical outcomes were evaluated. Of 33 patients, 29 patients were retrospectively analyzed. Vasoepididymostomy (VE) or cross VE was performed in 12 patients, the patency rate was 41.7% (5/12), and natural pregnancy was achieved in one of the patients. The other 17 patients underwent testicular sperm extraction as the distal vas deferens (contralateral side) was obstructed. These findings showed that VE or cross VE remains an alternative treatment for CUAVD patients with OA, even with a relatively low rate of patency and natural pregnancy.

CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.

Cystic fibrosis (CF) is one of the most common recessive genetic diseases, with a wide spectrum of phenotypes, ranging from infertility to severe pulmonary disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are considered the main genetic cause for CF. In this study, we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens (CUAVD), and one female patient diagnosed with congenital absence of the uterus (CAU). Testicular biopsy of one patient was performed, and hematoxylin and eosin (H and E) staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids, indicating obstructive azoospermia. To explore the underlying genetic factor in this familial disorder, we therefore performed whole-exome sequencing (WES) on all available family members. WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients (two CUAVD patients carried p.H949Y and p.L997F, and one CUAVD and the female CAU patient carried p.H949Y and p.I148T). All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing. Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.

[A CASE OF CONGENITAL UNILATERAL ABSENCE OF THE VAS DEFERENS WITH SUSPECTED IPSILATERAL RENAL AGENESIS].

A 5-month-old boy was referred to our department to examine poor development of external genitalia. The patient was diagnosed with micropenis and bilateral impalpable testes, and testosterone replacement therapy was recommended. The testes remained impalpable at 14 months of age; therefore, laparoscopy was performed to explore intra-abdominal testes. The patient was incidentally diagnosed with congenital unilateral absence of the right vas deferens. A renal sonography performed after the operation revealed a high possibility of right renal agenesis. Congenital absence of the vas deferens is associated with a high probability of renal anomalies. It is, therefore, essential to pay careful attention to renal dysfunction.

Congenital unilateral absence of the vas deferens with ipsilateral renal agenesis encountered during laparoscopic totally extraperitoneal inguinal hernia repair in an adult patient: A case report.

INTRODUCTION AND IMPORTANCE: Congenital unilateral absence of the vas deferens and ipsilateral renal agenesis is a rare condition in which the vas deferens is absent unilateral due to a congenital anomaly. This report illustrates the clinical relevance of absence of the vasa deferentia. This occurs either unilateral, which is associated with renal anomalies, or bilateral which leads to azoospermia and often has a genetic link to cystic fibrosis. CASE PRESENTATION: We report the first incidental finding of congenital unilateral absence of the vas deferens and ipsilateral renal agenesis during bilateral laparoscopic totally extraperitoneal inguinal hernia repair in a 70 year old patient. CONCLUSION: Surgeons who encounter unilateral absence of the vas deferens should assess bilateral absence of the vasa deferentia by palpation in adult patients or by laparoscopic exploration of the contralateral inguinal canal in pediatric patients. Renal ultrasonography should be performed in all patients to assess renal anomalies. Genetic counselling is advised when absence of the vasa deferentia is present bilaterally of unilaterally with associated infertility.

Clinical features and microsurgical reconstruction of congenital unilateral absence of the vas deferens with obstructive azoospermia: a tertiary care center experience / 亚洲男科学杂志(英文版)

Patients with congenital unilateral absence of the vas deferens (CUAVD) manifest diverse symptoms from normospermia to azoospermia. Treatment for CUAVD patients with obstructive azoospermia (OA) is complicated, and there is a lack of relevant reports. In this study, we describe the clinical features and evaluate the treatments and outcomes of CUAVD patients with OA. From December 2015 to December 2020, 33 patients were diagnosed as CUAVD with OA in Shanghai General Hospital (Shanghai, China). Patient information, ultrasound findings, semen analysis, hormone profiles, and treatment information were collected, and the clinical outcomes were evaluated. Of 33 patients, 29 patients were retrospectively analyzed. Vasoepididymostomy (VE) or cross VE was performed in 12 patients, the patency rate was 41.7% (5/12), and natural pregnancy was achieved in one of the patients. The other 17 patients underwent testicular sperm extraction as the distal vas deferens (contralateral side) was obstructed. These findings showed that VE or cross VE remains an alternative treatment for CUAVD patients with OA, even with a relatively low rate of patency and natural pregnancy.