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Andrology Sep 2020Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. CBAVD is mainly caused by mutations in the CFTR (cystic fibrosis...
BACKGROUND
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. CBAVD is mainly caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and is also related to the X-linked ADGRG2 (adhesion G protein-coupled receptor G2) gene. Genetic screening and counseling strategies for Chinese CBAVD populations remain controversial because the genetic background of CBAVD in Chinese population is largely unknown.
OBJECTIVES
In this study, we aimed to study the mutation spectrum of CFTR and ADGRG2 in a group of CBAVD patients and to evaluate sperm retrieval outcomes in a subset of CBAVD patients.
MATERIALS AND METHODS
Next-generation targeted sequencing was used to identify mutations in the CFTR and ADGRG2 genes in 38 CBAVD patients. In addition, we followed and analyzed nine of the 38 patients who were undergoing sperm retrieval surgery.
RESULTS
In total, 27 of 38 (71.05%) patients carried at least one likely pathogenic or pathogenic mutation in CFTR or ADGRG2. In addition to the IVS9-5T allele, 15 CFTR and 1 ADGRG2 mutations were identified, including 4 novel mutations. CFTR hot-spot mutations were not identified in our study. Spermatozoon was successfully obtained in all nine patients who underwent MESA or TESE surgery, but most patients had spermatozoa with relatively low motility and high abnormality rates.
DISCUSSION AND CONCLUSION
Except for the IVS9-5T allele, hot-spot mutations of CFTR may not exist in Chinese CBAVD patients. Therefore, next-generation targeted sequencing for whole CFTR and ADGRG2 gene may be the appropriate genetic testing method, and genetic counseling may be different from Caucasian populations. We observed a high success rate of sperm retrieval with relatively low motility and high abnormality rates in Chinese CBAVD patients. However, this is only a weak conclusion due to the small sample size.
Topics: Adult; Asian People; Azoospermia; Cystic Fibrosis Transmembrane Conductance Regulator; DNA Mutational Analysis; Gene Frequency; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Male; Male Urogenital Diseases; Mutation; Receptors, G-Protein-Coupled; Sperm Retrieval; Vas Deferens
PubMed: 32020786
DOI: 10.1111/andr.12769 -
Urology Feb 2018To enhance the management of inguinal obstruction, and to present the procedures and results of our surgical strategy for vas deferens obstruction following childhood...
OBJECTIVE
To enhance the management of inguinal obstruction, and to present the procedures and results of our surgical strategy for vas deferens obstruction following childhood herniorrhaphy.
METHODS
We treated a total of 56 patients diagnosed with obstructive azoospermia following bilateral inguinal herniorrhaphy. First, conventional inguinal open surgery was performed. If the abdominal vas was not identified in the inguinal region, laparoscopy was used to retrieve the deeper abdominal vas deferens, which was obstructed above the internal inguinal ring. Then, microsurgical vasovasostomy (VV) was performed. Overall patency and natural pregnancy rates were determined.
RESULTS
We terminated the surgery in 16 patients with pasty vasal fluid and no sperm. When bilateral remnants of the vas deferens were found, laparoscopic mobilization was not required, and 22 (55.0%) patients underwent bilateral VV with patency and natural pregnancy rates of 90.9% (20 of 22) and 50.0% (11 of 22), respectively. When a unilateral end could not be found, 7 (17.5%) patients underwent unilateral laparoscopy-assisted VV plus unilateral VV, with patency and natural pregnancy rates of 85.7% (6 of 7) and 42.9% (3 of 7), respectively. When bilateral ends were not found, 11 (27.5%) patients underwent bilateral laparoscopy-assisted VV, with patency and natural pregnancy rates of 81.8% (9 of 11) and 27.3% (3 of 11), respectively. Overall, our surgery yielded a patency rate of 87.5% (35 of 40) and a natural pregnancy rate of 42.5% (17 of 40).
CONCLUSION
Our treatment for vas deferens obstruction following childhood herniorrhaphy yielded good postoperative outcomes in terms of sperm concentration and motility, vas patency, and natural pregnancy, with no complications.
Topics: Adult; Azoospermia; Child; Clinical Decision-Making; Genital Diseases, Male; Herniorrhaphy; Humans; Male; Middle Aged; Postoperative Complications; Urologic Surgical Procedures, Male; Vas Deferens; Young Adult
PubMed: 29056578
DOI: 10.1016/j.urology.2017.10.005 -
Urology Oct 2021Vasal ectopia is a rare congenital anomaly arising from the close embryonic relationship between the proximal vas precursor and the common mesonephric duct. We present a...
Vasal ectopia is a rare congenital anomaly arising from the close embryonic relationship between the proximal vas precursor and the common mesonephric duct. We present a case of an adolescent male with recurrent epididymitis with scrotal and inguinal abscesses found to have right ectopic vas draining into the bladder.
Topics: Adolescent; Epididymitis; Humans; Male; Orchitis; Vas Deferens
PubMed: 34363814
DOI: 10.1016/j.urology.2021.07.022 -
Diagnostics (Basel, Switzerland) May 2023To retrospective analysis and summary the features of tuberous vas deferens tuberculosis (VD TB) and inguinal metastatic lymph nodes (MLN) in routine ultrasound (US) and...
PURPOSE
To retrospective analysis and summary the features of tuberous vas deferens tuberculosis (VD TB) and inguinal metastatic lymph nodes (MLN) in routine ultrasound (US) and contrast-enhanced US (CEUS) as well as to assess the utility of CEUS in differentiating between the two diseases.
METHODS
The US and CEUS findings of patients with pathologically confirmed tuberous VD TB ( = 17) and inguinal MLN ( = 28), including the number of lesions, presence of bilateral disease, differences in internal echogenicity, a conglomeration of lesions, and blood flow within the lesions, were retrospectively analyzed.
RESULTS
Routine US showed no significant difference in the number of lesions, nodule size, internal echogenicity, sinus tract, or skin rupture; however, significant differences were observed between the two conditions in the conglomeration of lesions (χ = 6.455; = 0.023) and the degree, intensity, and echogenicity pattern on CEUS (χ = 18.865, 17.455, and 15.074, respectively; = 0.000 for all).
CONCLUSIONS
CEUS can show the blood supply of the lesion, and judge the physical condition of the lesion better than US. Homogeneous, centripetal, and diffuse enhancement should prompt a diagnosis of inguinal MLN, whereas lesions with heterogeneous and diffuse enhancement on CEUS should be considered as VD TB. CEUS has great diagnostic value in differentiating between tuberous VD TB and inguinal MLN.
PubMed: 37238246
DOI: 10.3390/diagnostics13101762 -
Journal of Ultrasound in Medicine :... Jun 2021Scrotal sonography was performed in the infertile males. Sonography of epididymis was performed to document its presence, appearance, echo texture and duct ectasia. The...
Scrotal sonography was performed in the infertile males. Sonography of epididymis was performed to document its presence, appearance, echo texture and duct ectasia. The spermatic cord was examined to document the status of the vas deferens. TRUS was performed to look for distal vas. Epididymal abnormalities were universal in men with congenital bilateral absence of vas deferens, with a sensitivity of 100%. Three types of abnormal appearances were recognized - a honeycomb appearance, a fine meshwork pattern of head, or complete or partial absence of epididymis. Identification of these abnormalities can be a very sensitive marker for congenital bilateral absence of vas deferens.
Topics: Epididymis; Humans; Infertility, Male; Male; Male Urogenital Diseases; Vas Deferens
PubMed: 32955739
DOI: 10.1002/jum.15500 -
BMC Urology Feb 2022Ductus deferens may manifest in a variety of anomalies such as its absence, duplication, ectopy, or diverticulum. Ectopic seminal tract opening has two main types,...
BACKGROUND
Ductus deferens may manifest in a variety of anomalies such as its absence, duplication, ectopy, or diverticulum. Ectopic seminal tract opening has two main types, ectopic ejaculatory duct opening, and ectopic vas deferens opening. Generally, ductus deferens anomalies affect approximately 0.05% of the population. Patients may be asymptomatic or complaining of urinary tract infections and/or epididymitis. Most of these cases are associated with renal dysplasia. To confirm the diagnosis Cystourethroscopy catheterization and retrograde urethrogram should be performed, but the definitive diagnosis is done by vasography. The definitive treatment is complete surgical resection of the pathological urogenital connection. This case is commonly discovered while exploring other findings such as testicular torsion and inguinal hernia.
CASE PRESENTATION
We report a rare case of an 11-year-old male who presented with gross hematuria and numerous congenital malformations including a left polydactyly clubfoot, polyorchidism, with several surgical procedures, and left kidney dysgenesis. Surgery was performed for a left inguinal hernia, during which a third undescended testicle was discovered incidentally and was eradicated. A retrograde urethrogram was performed to establish the diagnosis. A fistula- that is connected with the left ureter- was resected. The histopathologic findings confirmed the diagnosis of true duplication of the Vas deferens, with communication between the ureter and the vas deferens. By follow-up, the kidney function tests were within normal limits.
CONCLUSIONS
This case report aims to highlight the early diagnosis and management of the duplicated vas deferens and the associated congenital malformations to improve the prognosis and kidney function and to avoid long-term complications.
Topics: Abnormalities, Multiple; Child; Clubfoot; Cystoscopy; Ejaculatory Ducts; Fistula; Hematuria; Hernia, Inguinal; Humans; Kidney; Male; Testis; Ureter; Ureteroscopy; Urinary Fistula; Vas Deferens
PubMed: 35197023
DOI: 10.1186/s12894-022-00972-2 -
Molecular Reproduction and Development Feb 2020Vas deferens is a conduit for sperm and fluid from the epididymis to the urethra. The duct is surrounded by a thick smooth muscle layer. To map the actin cytoskeleton of...
Vas deferens is a conduit for sperm and fluid from the epididymis to the urethra. The duct is surrounded by a thick smooth muscle layer. To map the actin cytoskeleton of the duct and its epithelium, we reacted sections of the proximal and distal regions with fluorescent phalloidin. Confocal microscopic imaging showed that the cylinder-shaped epithelium of the proximal region has a thick apical border of actin filaments that form microvilli. The epithelium of the distal region is covered with tall stereocilia (13-18 µm) that extend from the apical border into the lumen. In both regions, the lateral and basal cell borders showed a thin lining of actin cytoskeleton. The vas deferens epithelium contains various channels to regulate the fluid composition in the lumen. We mapped the localization of the epithelial sodium channel (ENaC), aquaporin-9 (AQP9), and cystic fibrosis transmembrane conductance regulator (CFTR) in the rat and mouse vas deferens. ENaC and AQP9 immunofluorescence were localized on the luminal surface and stereocilia and also in the basal and smooth muscle layers. CFTR immunofluorescence appeared only on the luminal surface and in smooth muscle layers. The localization of all three channels on the apical surface of the columnar epithelial cells provides clear evidence that these channels are involved concurrently in the regulation of fluid and electrolyte balance in the lumen of the vas deferens. ENaC allows the flow of Na ions from the lumen into the cytoplasm, and the osmotic gradient generated provides the driving force for the passive flow of water through AQP channels.
Topics: Actin Cytoskeleton; Animals; Aquaporins; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Epithelial Sodium Channels; Epithelium; Fluorescent Antibody Technique; Male; Mice; Microscopy, Confocal; Rats; Rats, Sprague-Dawley; Spermatozoa; Vas Deferens
PubMed: 31950584
DOI: 10.1002/mrd.23317 -
Zhonghua Nan Ke Xue = National Journal... Mar 2019To investigate the association between the 5T site polymorphism of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the risk of congenital... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To investigate the association between the 5T site polymorphism of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the risk of congenital bilateral absence of the vas deferens (CBAVD).
METHODS
This case-control study included 40 male patients with isolated CBAVD in the experimental group and 104 healthy men as controls. We used the Sanger sequencing method to encode the CFTR gene intron 9 (TG) m-n(T) and type the haplotypes, followed by a review and meta-analysis of the data obtained from the experiment and relevant literature from the PubMed, Web of science, Medline, CNKI and an exploration of the correlation between 5T mutation and the risk of CBAVD.
RESULTS
Sanger sequencing revealed 6 genotypes in the CBAVD patients, including TG11-5T, TG12-5T, TG13-5T, TG11-7T, TG12-7T and TG11-9T, and 7 in the healthy controls, which were TG11-5T, TG12-5T, TG10-7T, TG11-7T, TG12-7T, TG13-7T and TG11-9T. Compared with the controls, the CBAVD patients showed obviously increased rates of the TG12-5T haplotype (4.81% [10/208] vs 16.25% [13/80]) and the TG13-5T haplotype (0% vs 7.5% [6/80]), but no significant difference in the TG11-5T haplotype (1.92% [4/208] vs 2.50% [2/80]). There was a statistically significant difference between the experimental and control groups in the TG12_13-5T haplotype (OR = 7.40, 95% CI: 4.83-11.34, P < 0.01). The TG12_13-5T haplotype was found to be highly correlated with CBAVD.
CONCLUSIONS
The haplotype of TG12_13-5T increases the risk of CBAVD in men, which has provided a theoretical basis for male reproduction.
Topics: Case-Control Studies; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Male; Male Urogenital Diseases; Mutation; Vas Deferens
PubMed: 32216241
DOI: No ID Found -
Human Reproduction (Oxford, England) Jun 2017Can all types of testicular germ cells be accurately identified by microscopy techniques and unambiguously distributed in stages of the human seminiferous epithelium...
STUDY QUESTION
Can all types of testicular germ cells be accurately identified by microscopy techniques and unambiguously distributed in stages of the human seminiferous epithelium cycle (SEC)?
SUMMARY ANSWER
By using a high-resolution light microscopy (HRLM) method, which enables an improved visualization of germ cell morphological features, we identified all testicular germ cells in the seminiferous epithelium and precisely grouped them in six well-delimitated SEC stages, thus providing a reliable reference source for staging in man.
WHAT IS ALREADY KNOWN
Morphological characterization of germ cells in human has been done decades ago with the use of conventional histological methods (formaldehyde-based fixative -Zenker-formal- and paraffin embedding). These early studies proposed a classification of the SEC in six stages. However, the use of stages as baseline for morphofunctional evaluations of testicular parenchyma has been difficult because of incomplete morphological identification of germ cells and their random distribution in the human SEC.
STUDY DESIGN, SIZE, DURATION
Testicular tissue from adult and elderly donors with normal spermatogenesis according to Levin's, Johnsen's and Bergmann's scores were used to evaluate germ cell morphology and validate their distribution and frequency in stages throughout human spermatogenesis.
PARTICIPANTS/MATERIALS, SETTING, METHODS
Testicular tissue from patients diagnosed with congenital bilateral agenesis of vas deferens (n = 3 adults) or prostate cancer (n = 3 elderly) were fixed in glutaraldehyde and embedded in araldite epoxy resin. Morphological analyses were performed by both light and transmission electron microscopy.
MAIN RESULTS AND THE ROLE OF CHANCE
HRLM method enabled a reliable morphological identification of all germ cells (spermatogonia, spermatocytes and spermatids) based on high-resolution aspects of euchromatin, heterochromatin and nucleolus. Moreover, acrosomal development of spermatids was clearly revealed. Altogether, our data redefined the limits of each stage leading to a more reliable determination of the SEC in man.
LIMITATIONS, REASONS FOR CAUTION
Occasionally, germ cells can be absent in some tubular sections. In this situation, it has to be taken into account the germ cell association proposed in the present study to classify the stages.
WIDER IMPLICATIONS OF THE FINDINGS
Our findings bring a new focus on the morphology and development of germ cells during the SEC in human. Application of HRLM may be a valuable tool for research studies and clinical andrology helping to understand some testicular diseases and infertility conditions which remain unsolved.
STUDY FUNDING/COMPETING INTEREST
Experiments were partially supported by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Fundação de Amparo à Pesquisa de Minas Gerais (FAPEMIG) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). The authors declare that there are no conflicts of interest.
TRIAL REGISTRATION NUMBER
Not applicable.
Topics: Adult; Aged; Aged, 80 and over; Aging; Biopsy; Gonadal Dysgenesis; Humans; Image Processing, Computer-Assisted; Male; Microscopy; Microscopy, Electron, Transmission; Models, Biological; Orchiectomy; Parenchymal Tissue; Prostatic Neoplasms; Seminiferous Epithelium; Spermatogenesis; Spermatozoa; Testis; Vas Deferens
PubMed: 28369509
DOI: 10.1093/humrep/dex064 -
BJU International Apr 2015To describe and evaluate the outcomes of a new epididymovasostomy technique.
OBJECTIVES
To describe and evaluate the outcomes of a new epididymovasostomy technique.
PATIENTS AND METHODS
Nine patients with obstructive azoospermia were treated at the Minia University Hospital using a new microsurgical bilateral epididymovasostomy technique. The technique involved the opening of a small window in the tunica of the epididymis, making an opening in the underneath epididymal tubule and keeping it open by fixing the edges of the epididymal opening to the edge of the epididymal tunica with four 10/0 nylon sutures. The abdominal cut end of the vas deferens was then anastomosed to the epididymal opening by suturing the epididymal tubule, fixed to its tunica in one layer, to the full thickness vas deferens. The main outcome measure was finding sperm in the ejaculate.
RESULTS
Sperm was found in the ejaculate in six out of nine patients after our new, one-layer, epididymovasostomy technique. Mean ± sd operating time was 176 ± 23 min.
CONCLUSIONS
This new, one-layer, epididymovasostomy technique provides a simple alternative method of epididymovasostomy, with reasonable outcomes. More cases and follow-up are needed to make meaningful comparisons with conventional epididymovasostomy.
Topics: Adult; Azoospermia; Epididymis; Humans; Infertility, Male; Male; Microsurgery; Treatment Outcome; Urologic Surgical Procedures, Male; Vas Deferens; Young Adult
PubMed: 24924910
DOI: 10.1111/bju.12839