Unilateral Absence Of Vas Deferens Research Articles

Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples.

Congenital unilateral absence of vas deferens has been diagnosed in fertile and normozoospermic males and is associated with the risk of unilateral renal absence or cystic fibrosis transmembrane conductance regulator mutations; but no prediction model currently exists to diagnose this condition. The study aims to identify clinical and biological variables that may have a predictive value for the diagnosis of congenital unilateral absence of vas deferens in male partners of infertile couples MATERIALS AND METHODS: We designed a retrospective, cross-sectional, case-control study on electronic health records of a single tertiary-care andrological centre collected between 1998 and 2018. We included all subjects diagnosed with congenital unilateral absence of vas deferens using combined scrotal and transrectal ultrasounds. Controls were confirmed free of congenital unilateral absence of vas deferens by the same way. Both groups received standardised exploration procedures. Multivariable logistic regression model was built in a backward stepwise manner. Model performance and calibration were assessed. The study is reported according to TRIPOD statement. We included 69 congenital unilateral absence of vas deferens cases and 78 controls. Cases had a lower semen volume than controls. The congenital unilateral absence of vas deferens risk was associated with history of cryptorchidism and both levels of semen fructose and α-glucosidase. These predictors were confirmed by a random forest algorithm. The area under the curve was 0.886 (95% interval: 0.81-0.92). Calibration was performed with the Hosmer-Lemeshow test (p=0.88). History of cryptorchidism, semen fructose and α-glucosidase were identified as relevant and independent predictors for the diagnosis of congenital unilateral absence of vas deferens. The model enables to identify male patients with a high risk of congenital unilateral absence of vas deferens to whom a transrectal ultrasounds would be proposed to confirm the diagnosis, whatever their semen parameters. It will also help to address the risks of unilateral renal absence and of cystic fibrosis transmembrane conductance regulator mutations carrying during the management of infertile couples.

Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.

BackgroundMen with obstructive azoospermia (OA) due to impaired development of the genital tract often carry at least one Cystic Fibrosis Transmembrane Conductance Regulator CFTR mutation.ObjectiveTo determine the frequency of Congenital Bilateral Absence of Vas deferens (CBAVD) in men with azoospermia carrying CFTR gene mutations.Materials and methodsNon‐vasectomized men with azoospermia referred to our andrological center were consecutively included. All men underwent palpation of the scrotal parts of the Vasa deferentia, ultrasonography of the testicles and hormone profile, and genetic analyses. Testicular biopsy was usually performed. A panel of 32 of the most important CFTR mutations was examined from genomic DNA isolated from blood lymphocytes. Either multiplex PCR analysis or a next‐generation sequencing technique was performed.ResultsAmong the 639 men with azoospermia, 69 (10.8%) had at least one CFTR mutation. Of the 43 patients with at least one of the two CFTR mutations, ΔF508 and R117H, 19 (44.2%) showed CBAVD, 2 (4.7%) Congenital Unilateral Absence of Vas deferens (CUAVD), and 22 (51.2%) presence of the scrotal parts of the Vasa deferentia. In contrast, only 1/21 men (4.8%) with an isolated IVS8‐5T variant showed CBAVD. Among the further 20 men with an isolated IVS8‐5T variant, 11 had a history of cryptorchidism. Among the 570 men without CFTR mutations, CBAVD was found in only two men and CUAVD in one. FSH level was higher and testicular volume lower in men with present Vasa deferentia compared to those without (P < .001; Student's t test). Thirty‐one men with either ΔF508 or R117H mutations, or both, had a testicular biopsy. Motile spermatozoa were found in 100% of 16 cases with CBAVD but in only 6 out of 15 cases with present Vasa deferentia (P < .01; Fisher's exact test).Discussion and conclusionsCBAVD was found in ~ 44% of men with ΔF508/R117H mutations. The data may support that CFTR mutations might affect male fertility through other mechanisms than obstruction of the genital tract. For a practical, clinical purpose analysis for only ΔF508, R117H and IVS8‐5T seems sufficient until further research shows anything else.

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic.

Men with congenital unilateral absence of vas deferens were reported to be mainly azoospermic, with both unilateral renal absence and mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) but some have neither. To assess whether in infertile couples the male partners with congenital unilateral absence of vas deferens are mainly azoospermic men. Retrospective study in a unique university hospital; reproductive, clinical, CFTR analysis and seminal data of male partners of infertile couples (from 1998 to 2018) were analysed. Diagnosis of congenital unilateral absence of vas deferens was based on transrectal ultrasounds (TRUS): complete or partial absence of one vas deferens with complete contralateral vas deferens confirmed in 63 men. Distribution of sperm count in three classes: azoospermia, oligozoospermia or normozoospermia. Ultrasound determination of renal status; seminal biomarkers assays; and search for CFTR mutations. Among the 63 men, 39.7% displayed azoospermia, 27% oligozoospermia and 33.3% normozoospermia; 42% of the non-azoospermic men (16/38) had previously obtained a natural pregnancy. We found unilateral renal absence in 17/59 patients (29%). Among 50 men with CFTR testing, five carried an allele associated with cystic fibrosis belonging to the 29 men without renal anomalies, indicating a high allelic frequency (8.6%). The 63 patients displayed high rates of surgical histories for undescended testicles or inguinal hernia, low values of semen volume and of total seminal glycerophosphocholine. Our results indicate that men with congenital unilateral absence of vas deferens mainly display oligozoospermia or normozoospermia and that they were previously fertile. They clearly confirm, first, that CFTR testing is recommended in congenital unilateral absence of vas deferens men and it should be mandatory for those with normal kidneys; and, second, that TRUS is needed for the diagnosis of congenital unilateral absence of vas deferens. As congenital unilateral absence of vas deferens may be present whatever the sperm count, biological warnings are represented by semen volume and seminal epididymal markers and clinical warnings by surgical histories of undescended testes or inguinal hernia.

Unilateral absence of vas deferens: prevalence among 23.013 men seeking vasectomy.

ABSTRACTPurpose:To determine the prevalence of unilateral absence of vas deferens (UAVD) in men with both testes seeking vasectomy.Materials and Methods:Computerized charts of 23,013 patients encountered between January 1994 and December 2013 in one university hospital and two community clinics of Quebec City, Canada, were searched. Pre-vasectomy consultation, operative reports and semen analysis results were reviewed to identify cases of UAVD. Cases were categorized as confirmed (unilateral vasectomy and success confirmed by semen analysis) or possible congenital UAVD further sub-categorized according to whether or not a scrotal anomaly was present.Results:Among 159 men identified as potentially having UAVD, chart review revealed that 47 had only one testicle, 26 had bilateral vasa, and four were misdiagnosed (post-vasectomy semen analysis [PVSA] showing motile sperm after unilateral vasectomy) leaving 82 men deemed cases of UAVD (0.36%, 95% confidence interval 0.28% to 0.43%). These were classified as confirmed (n=48, 0.21%) and possible (n=34, 0.15%; 22 without and 12 with scrotal anomalies) congenital UAVD. The misdiagnosis ratio of UAVD was low when scrotal content was otherwise normal (1:48), but higher if anomalies were present (3:12).Conclusions:Most surgeons who perform vasectomy will encounter cases of UAVD. In most suspected cases, it is safe and effective to proceed with unilateral vasectomy under local anesthesia while stressing the need for PVSA. Further studies or scrotal exploration may be considered in patient with prior scrotal surgery.

A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis

Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilateral absence of vas deferens, which was found incidentally during an evaluation of undescended testis in a patient with ipsilateral renal agenesis. Case Presentation. A 10-month-old boy was referred to the urology clinic with an undescended right testis. Preoperative abdominal ultrasonography showed agenesis of the right kidney and the absence of right vas deferens and epididymis was confirmed during laparoscopic orchiectomy performed due to short right spermatic cord. There were no other concomitant anomalies of the genitourinary system observed in evaluation. Conclusion. Congenital unilateral absence of the vas deferens with cryptorchidism and renal agenesis is a rare diagnostic entity. Cryptorchidism or absent vas deferens found incidentally should lead the physician to evaluate the status of the contralateral vas deferens and conduct a renal tract ultrasound study.

Advantages of Magnetic Resonance Imaging (MRI) of the Seminal Vesicles and Intra-abdominal Vas Deferens in Patients With Congenital Absence of the Vas Deferens

To show the flexibility in magnetic resonance imaging (MRI) of seminal vesicle (SV) and intra-abdominal segment of vas deferens for the patients with congenital absence of the vas deferens (CAVD), including congenital bilateral absence of the vas deferens (CBAVD) and congenital unilateral absence of vas deferens (CUAVD). Fourteen consecutive patients with CAVD had transrectal ultrasonography (TRUS) and further MRI evaluations. TRUS was performed using a 7.5-MHz transducer, and images of the SVs were obtained, calculated in the transaxial plane. MRI studies were performed with a 1.5-7 superconducting system, T1- and T2-weighted axial, coronal, and sagittal imaging of the pelvis was obtained. If the SVs were present, then their size was measured for the morphologic classification and diagnosis. All of the patients also received cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation testing. In a series of 12 men with CBAVD, only 4 were found to have bilateral SV agenesis using MRI. The remaining 8 men with unilateral hypoplasia still had SV remnants. MRI also detected the intra-abdominal segment of the vas deferens. Through our study of MRI, SV agenesis is not well associated with the presence of CFTR mutation in patients with CAVD. MRI provides a precise imaginal diagnosis of SV defect, which is superior to the TRUS examination for the patients with CAVD. Compared with the previous inaccurate examination method of TRUS, this study demonstrates that MRI can provide better images for the patients with CAVD for the clinical diagnosis of existing defects of internal seminal tract and internal organs.

Klinefelter's syndrome with unilateral absence of vas deferens

To report a case of Klinefelter's syndrome with unilateral absence of vas deferens. Case report. Tertiary-care infertility clinic. A 28-year-old man with the complaint of infertility. None. Physical examination, genetic and hormonal evaluation. Both testicles were approximately 2 mm, and unilateral vas deferens was not palpable. Hormonal evaluation revealed hypergonadotropism, and genetic studies revealed a 47,XXY karyotype and delta F508 mutation of the cystic fibrosis gene. To our knowledge there are no previous reports of both conditions (Klinefelter's syndrome and unilateral absence of vas deferens) existing simultaneously. A detailed physical examination seems mandatory for patients seeking treatment for infertility, to determine any possible deleterious health-related condition(s) for both themselves and offspring.

Erkek İnfertilitesinde Transrektal Ultrasonografi

SUMMARY Transrectal Ultrasonography in Male Infertility Objective: To evaluate the role of transrectal ultrasonography in the diagnosis and treatment of male infertility. Materials and methods: Seventyfive infertile men with azoospermia or oligozoospermia and low ejaculate volume were examined with transrectal ultrasonography during a 5-year period. . Results: Of the 75 men, 20 (26.6%) had no anatomic ejaculatory ducts abnormalities. Of the remaining patients; 9 (12%) had congenital bilateral absence of vas deferens, one had congenital unilateral absence of vas deferens, 10 (13.3%) had calcification of seminal vesicles, ejaculatory ducts or prostate, 14 (18.6%) had ejaculatory duct calculi, 27 (36%) had obstructing cysts of the vas deferens, seminal vesicles, ejaculatory ducts or prostate. Fifteen patients with cysts (55.5%) were treated with transrectal ultrasonography guided aspiration. Conclusion: Transrectal ultrasonography enables an accurate diagnosis in certain cases of male infertility, and can be used as a guide for cyst aspiration in these patients.

Congenital absence of vas deferens with ipsilateral urinary anomalies

Unilateral absence of vas deferens is frequently associated with ipsilateral anomalies of the urinary tract. If a vas deferens cannot be palpated prior to vasectomy for sterilization, it is believed that an intravenous pyelogram should be performed. If any ipsilateral anomaly is found in the latter, only unilateral vasectomy should be performed followed by repeated semen analyses. Only when there is a persistent finding of sperm after three to four months should wide exploration of the hemiscrotum be done in cases in which the vas could not be found.