Duplication of the vas deferens is a very rare congenital anomaly in which two vasa deferentia coexist within the spermatic cord. Duplication of the vas deferens can be found during herniorrhaphy, vasectomy, and varicocelectomy performed on the spermatic cord or around the spermatic cord. However, it is estimated that the incidence of duplication of the vas deferens is under-reported and under-recognized. Unless anomalies of the vas deferens such as duplication of the vas deferens are recognized by surgeons, it will be difficult to reduce vas deferens injuries and achieve a satisfactory surgical outcome. In addition, care should be taken in cases of duplication of the vas deferens because it can be complicated by non-testicular genitourinary anomalies. We report a case of duplication of the vas deferens discovered during routine varicocelectomy.
Congenital Abnormalities ; Herniorrhaphy ; Incidence ; Spermatic Cord ; Varicocele ; Vas Deferens* ; Vasectomy

Congenital absence of the vas deferens (CAVD) is an important factor that contributes to obstructive azoospermia and male infertility. The etiology of CAVD is associated with the cystic fibrosis transmembrane conductance regulator (CFTR) gene and defects in the Wolffian duct, and frequently complicated by renal agenesis and other urogenital abnormalities. Physical examination may reveal nonpalpable scrotal vas deferentia, while vasography intrinsic vasal absence. Ultrasound and computerized tomography (CT) can rule out the abnormalities of the upper urinary tracts and the seminal vesicles. Although it is difficult to cure the disease, it is now possible for CAVD patients to father children with the help of assisted reproductive technology (ART). The present review is focused on the etiology, diagnosis and treatment of CAVD.
Cystic Fibrosis ; etiology ; Humans ; Infertility, Male ; etiology ; Male ; Mesonephros ; abnormalities ; Urogenital Abnormalities ; diagnosis ; epidemiology ; therapy ; Vas Deferens ; abnormalities

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.
Pregnancy ; Female ; Humans ; Male ; Vas Deferens/abnormalities* ; Azoospermia/surgery* ; Epididymis/surgery* ; Retrospective Studies ; Tertiary Care Centers ; China ; Semen

Adult ; Azoospermia/etiology* ; Choristoma/surgery* ; Humans ; Male ; Microdissection ; Sperm Retrieval ; Testicular Diseases/surgery* ; Testis/surgery* ; Vas Deferens/abnormalities*

OBJECTIVETo investigate the clinical characteristics, diagnosis and therapeutic strategies of congenital absence of the vas deferens (CAVD).

METHODSWe summarized the clinical data of 81 cases of CAVD and investigated clinical features, diagnosis and management of the disease.

RESULTSSeventy-nine cases of infertility were diagnosed as CAVD at the clinic, and 2 were diagnosed during surgical exploration. The population consisted of 40 cases of congenital bilateral absence of the vas deferens (CBAVD), 25 cases of congenital unilateral absence of the vas deferens (CUAVD), and 16 cases of segmental agenesis of the vas deferens. Seventy-four spouses received the treatment of assisted reproductive techniques, including intracytoplasmic sperm injection (ICSI) in 12 cases, and 4 of them achieved pregnancy.

CONCLUSIONCAVD frequently presents with infertility. CBAVD may manifest as obstructive azoospermia, and CUAVD and segmental vasal agenesis as oligospermia, asthenospermia, or obstructive azoospermia. CAVD is usually not difficult to diagnose, but may be missed due to careless examination. Assisted reproductive technology (ART) plays a key role in the management of CAVD.

Adult ; Aged ; Humans ; Infertility, Male ; diagnosis ; etiology ; therapy ; Male ; Middle Aged ; Reproductive Techniques, Assisted ; Urogenital Abnormalities ; complications ; diagnosis ; therapy ; Vas Deferens ; abnormalities

OBJECTIVETo assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD).

METHODSWe detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database.

RESULTSFour novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database.

CONCLUSIONThere are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.

Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Exons ; Genotype ; Humans ; Male ; Male Urogenital Diseases ; genetics ; Mutation ; Vas Deferens ; abnormalities

AIMTo access beta-endorphin levels in serum as well as seminal plasma in different infertile male groups.

METHODSBeta-endorphin was estimated in the serum and seminal plasma by enzyme-linked immunosorbent assay (ELISA) method in 80 infertile men equally divided into four groups: non-obstructive azoospermia (NOA), obstructive azoospermia (OA), congenital bilateral absent vas deferens (CBVAD) and asthenozoospermia. The results were compared to those of 20 normozoospermic proven fertile men.

RESULTSThere was a decrease in the mean levels of beta-endorphin in the seminal plasma of all successive infertile groups (mean +/- SD: NOA 51.30 +/- 27.37, OA 51.88 +/- 9.47, CBAVD 20.36 +/- 13.39, asthenozoospermia 49.26 +/- 12.49 pg/mL, respectively) compared to the normozoospermic fertile control (87.23 +/- 29.55 pg/mL). This relation was not present in mean serum level of beta-endorphin between four infertile groups (51.09 +/- 14.71, 49.76 +/- 12.4, 33.96 +/- 7.2, 69.1 +/- 16.57 pg/mL, respectively) and the fertile control group (49.26 +/- 31.32 pg/mL). The CBVAD group showed the lowest seminal plasma mean level of beta-endorphin. Testicular contribution of seminal beta-endorphin was estimated to be approximately 40%. Seminal beta-endorphin showed significant correlation with the sperm concentration (r = 0.699, P = 0.0188) and nonsignificant correlation with its serum level (r = 0.375, P = 0.185) or with the sperm motility percentage (r = 0.470, P = 0.899).

CONCLUSIONThe estimation of beta-endorphin alone is not conclusive to evaluate male reproduction as there are many other opiates acting at the hypothalamic pituitary gonadal axis.

Asthenozoospermia ; blood ; metabolism ; Azoospermia ; blood ; metabolism ; Enzyme-Linked Immunosorbent Assay ; Humans ; Infertility, Male ; blood ; metabolism ; Male ; Prospective Studies ; Semen ; chemistry ; Vas Deferens ; abnormalities ; beta-Endorphin ; blood ; metabolism

OBJECTIVETo assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males.

METHODSGenomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced.

RESULTSCFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles.

CONCLUSIONThis study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.

Alleles ; Asian Continental Ancestry Group ; genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Genetic Predisposition to Disease ; Humans ; Introns ; Male ; Male Urogenital Diseases ; genetics ; Mutation ; Polymorphism, Genetic ; Vas Deferens ; abnormalities

OBJECTIVETo discuss the results and significance of the detection of the CFTR gene mutation in azoospermia patients with congenital unilateral absence of the vas deferens (CUAVD).

METHODSWe collected peripheral blood samples from 6 azoospermia patients with CUAVD for detection of the CFTR gene mutations and single nucleotide polymorphisms. We analyzed the genome sequences of the CFTR gene in comparison with the website of the UCSC Genome Browser on Human Dec. 2013 Assembly.

RESULTSMissense mutation of c. 592G > C in exon 6 was found in 1 of the 6 azoospermia patients with CUAVD and splicing mutation of c. 1210-12T[5] was observed in the noncoding region before exon 10 in 2 of the patients, both with the V470 haplotype in exon 11.

CONCLUSIONMutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients.

Azoospermia ; genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Exons ; Humans ; Male ; Male Urogenital Diseases ; genetics ; Mutation, Missense ; genetics ; Vas Deferens ; abnormalities

Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%-2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-known genes related to male fertility. The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia (NOA). CFTR mutations are highly polymorphic and have established ethnic specificity. Compared with F508Del in Caucasians, the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis. However, whether p.G970D participates in male infertility remains unknown. Herein, a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA. Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation (4.1%, 5/122), excluding polymorphic sites. Furthermore, we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients. The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells. In spermatocyte GC-2(spd)ts (GC2) Cftr p.G965D cells, RNA splicing variants were detected and CFTR expression decreased, which may contribute to the phenotypes associated with impaired spermatogenesis. Thus, this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.
Humans ; Animals ; Mice ; Male ; Mutation, Missense ; Retrospective Studies ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics* ; Infertility, Male/genetics* ; Mutation ; Vas Deferens/abnormalities* ; Spermatogenesis/genetics*